123 results on '"Legarda I"'
Search Results
2. Management of Parkinson’s disease and other movement disorders in women of childbearing age: Part 2
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García-Ramos, R., Santos-García, D., Alonso-Cánovas, A., Álvarez-Sauco, M., Ares, B., Ávila, A., Caballol, N., Carrillo, F., Escamilla Sevilla, F., Freire, E., Gómez Esteban, J.C., Legarda, I., López Manzanares, L., López Valdés, E., Martínez-Torres, I., Mata, M., Pareés, I., Pascual-Sedano, B., Martínez Castrillo, J.C., and Mir, P.
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- 2021
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3. Management of Parkinson’s disease and other movement disorders in women of childbearing age: Part 1
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García-Ramos, R., Santos-García, D., Alonso-Cánovas, A., Álvarez-Sauco, M., Ares, B., Ávila, A., Caballol, N., Carrillo, F., Escamilla Sevilla, F., E. Freire, Gómez Esteban, J.C., Legarda, I., López Manzanares, L., López Valdés, E., Martínez-Torres, I., Mata, M., Pareés, I., Pascual-Sedano, B., Mir, P., and Martínez Castrillo, J.C.
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- 2021
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4. Manejo de la enfermedad de Parkinson y otros trastornos del movimiento en mujeres en edad fértil: parte 2
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García-Ramos, R., Santos-García, D., Alonso-Cánovas, A., Álvarez-Sauco, M., Ares, B., Ávila, A., Caballol, N., Carrillo, F., Escamilla Sevilla, F., Freire, E., Gómez Esteban, J.C., Legarda, I., López Manzanares, L., López Valdés, E., Martínez-Torres, I., Mata, M., Pareés, I., Pascual-Sedano, B., Martínez Castrillo, J.C., and Mir, P.
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- 2021
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5. Manejo de la enfermedad de Parkinson y otros trastornos del movimiento en mujeres en edad fértil: Parte 1
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García-Ramos, R., Santos-García, D., Alonso-Cánovas, A., Álvarez-Sauco, M., Ares, B., Ávila, A., Caballol, N., Carrillo, F., Escamilla Sevilla, F., Freire, E., Gómez Esteban, J.C., Legarda, I., López Manzanares, L., López Valdés, E., Martínez-Torres, I., Mata, M., Pareés, I., Pascual-Sedano, B., Mir, P., and Martínez Castrillo, J.C.
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- 2021
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6. Depression is Associated with Impulse-compulsive Behaviors in Parkinson’s disease
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Santos-García, D, de Deus Fonticoba, T, Cores Bartolomé, C, Suárez Castro, E, Jesús, S, Mir, P, Pascual-Sedano, B, Pagonabarraga, J, Kulisevsky, J, Hernández-Vara, J, Planellas, LL, Cabo-López, I, Seijo-Martínez, M, Legarda, I, Carrillo Padilla, F, Caballol, N, Cubo, E, Nogueira, V, Alonso Losada, MG, López Ariztegui, N, González Aramburu, I, García Caldentey, J, Borrue, C, Valero, C, and Sánchez Alonso, P
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- 2021
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7. Quality of life and non-motor symptoms in Parkinson's disease patients with subthreshold depression
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Santos-García, D., de Deus Fonticoba, T., Suárez Castro, E., Aneiros Díaz, A., Cores Bartolomé, C., Feal Panceiras, M.J., Paz González, J.M., Valdés Aymerich, L., García Moreno, J.M., Blázquez Estrada, M., Jesús, S., Mir, P., Aguilar, M., Planellas, L.L., García Caldentey, J., Caballol, N., Legarda, I., Cabo López, I., López Manzanares, L., Ávila Rivera, M.A., Catalán, M.J., López Díaz, L.M., Borrué, C., Álvarez Sauco, M., Vela, L., Cubo, E., Martínez Castrillo, J.C., Sánchez Alonso, P., Alonso Losada, M.G., López Ariztegui, N., Gastón, I., Pascual-Sedano, B., Seijo, M., Ruíz Martínez, J., Valero, C., Kurtis, M., González Ardura, J., Prieto Jurczynska, C., and Martinez-Martin, P.
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- 2020
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8. Non-motor symptoms burden, mood, and gait problems are the most significant factors contributing to a poor quality of life in non-demented Parkinson's disease patients: Results from the COPPADIS Study Cohort
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Adarmes, A.D., Almeria, M., Alonso Losada, G., Alonso Cánovas, A., Alonso-Frech, F., Arribas, S., Ascunde Vidondo, A., Aquilar, M., Ávila, M.A., Bernardo Lambrich, N., Bejr-Kasem, H., Blázquez Estrada, M., Botí, M., Cabello González, C., Cabo López, I., Caballol, N., Cámara Lorenzo, A., Carrillo, F., Catalán, M.J., Clavero, P., Cortina Fernández, A., Crespo Cuevas, A., de Fábregues-Boixar, O., Díez-Fairen, M., Erro, E., Estelrich Peyret, E., Fernández Guillán, N., Gámez, P., Gallego, M., García Caldentey, J., García Campos, C., García Moreno, J.M., Gastón, I., Gómez Garre, M.P., González Aloy, J., González-Aramburu, I., González Ardura, J., González García, B., González Palmás, M.J., González Toledo, G.R., Golpe Díaz, A., Grau Solá, M., Guardia, G., Hernández-Vara, J., Horta Barba, A., Infante, J., Jesús, S., Kulisevsky, J., Kurtis, M., Labandeira, C., Labrador, M.A., Lacruz, F., Lage Castro, M., Legarda, I., López Ariztegui, N., López Díaz, L.M., López Manzanares, L., López Seoane, B., Martí Andres, G., Martí, M.J., Martínez-Castrillo, J.C., McAfee, D., Meitín, M.T., Menéndez González, M., Méndez del Barrio, C., Miranda Santiago, J., Morales Casado, M.I., Moreno Diéguez, A., Nogueira, V., Novo Amado, A., Novo Ponte, S., Ordás, C., Pagonabarraga, J., Pareés, I., Pascual-Sedano, B., Pastor, P., Pérez Fuertes, A., Pérez Noguera, R., Planellas, Ll, Pol Fuster, J., Prats, M.A., Prieto Jurczynska, C., Puente, V., Redondo Rafales, N., Rodríguez Méndez, L., Roldán, F., Ruíz De Arcos, M., Ruíz Martínez, J., Sánchez Alonso, P., Sánchez-Carpintero, M., Sánchez Díez, G., Sánchez Rodríguez, A., Santacruz, P., Segundo Rodríguez, J.C., Seijo, M., Serarols, A., Sierra Peña, M., Tartari, J.P., Vargas, L., Vázquez Gómez, R., Villanueva, C., Vives, B., Villar, M.D., Santos García, D., de Deus Fonticoba, T., Suárez Castro, E., Borrué, C., Mata, M., Solano Vila, B., Cots Foraster, A., Álvarez Sauco, M., Rodríguez Pérez, A.B., Vela, L., Macías, Y., Escalante, S., Esteve, P., Reverté Villarroya, S., Cubo, E., Casas, E., Arnaiz, S., Carrillo Padilla, F., Pueyo Morlans, M., Mir, P., and Martinez-Martin, P.
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- 2019
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9. Supplemental Material, sj-doc-1-jgp-10.1177_0891988720964250 - Sleep Problems Are Related to a Worse Quality of Life and a Greater Non-Motor Symptoms Burden in Parkinson’s Disease
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Santos-García, Diego, Castro, E. Suárez, de Deus Fonticoba, T., Panceiras, M. J. Feal, Enriquez, J. G. Muñoz, González, J. M. Paz, Bartolomé, C. Cores, Planellas, L. L., Caldentey, J. García, Caballol, N., Legarda, I., López, I. Cabo, Manzanares, L. López, Rivera, M. A. Ávila, Catalán, M. J., Nogueira, V., Borrué, C., Sauco, M. Álvarez, Vela, L., Cubo, E., Castrillo, J. C. Martínez, Alonso, P. Sánchez, Losada, M. G. Alonso, Ariztegui, N. López, Gastón, M. I., Kulisevsky, J., Pagonabarraga, J., Seijo, M., Martínez, J. Ruíz, Valero, C., Kurtis, M., Ardura, J. González, Prieto, C., Mir, P., and Martinez-Martin, P.
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FOS: Psychology ,FOS: Clinical medicine ,170199 Psychology not elsewhere classified ,110319 Psychiatry (incl. Psychotherapy) ,110308 Geriatrics and Gerontology ,110904 Neurology and Neuromuscular Diseases ,Neuroscience - Abstract
Supplemental Material, sj-doc-1-jgp-10.1177_0891988720964250 for Sleep Problems Are Related to a Worse Quality of Life and a Greater Non-Motor Symptoms Burden in Parkinson’s Disease by Diego Santos-García, E. Suárez Castro, T. de Deus Fonticoba, M. J. Feal Panceiras, J. G. Muñoz Enriquez, J. M. Paz González, C. Cores Bartolomé, L. L. Planellas, J. García Caldentey, N. Caballol, I. Legarda, I. Cabo López, L. López Manzanares, M. A. Ávila Rivera, M. J. Catalán, V. Nogueira, C. Borrué, M. Álvarez Sauco, L. Vela, E. Cubo, J. C. Martínez Castrillo, P. Sánchez Alonso, M. G. Alonso Losada, N. López Ariztegui, M. I. Gastón, J. Kulisevsky, J. Pagonabarraga, M. Seijo, J. Ruíz Martínez, C. Valero, M. Kurtis, J. González Ardura, C. Prieto, P. Mir, P. Martinez-Martin and on behalf of the COPPADIS Study Group in Journal of Geriatric Psychiatry and Neurology
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- 2023
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- View/download PDF
10. Supplemental Material, sj-pdf-2-jgp-10.1177_0891988720964250 - Sleep Problems Are Related to a Worse Quality of Life and a Greater Non-Motor Symptoms Burden in Parkinson’s Disease
- Author
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Santos-García, Diego, Castro, E. Suárez, de Deus Fonticoba, T., Panceiras, M. J. Feal, Enriquez, J. G. Muñoz, González, J. M. Paz, Bartolomé, C. Cores, Planellas, L. L., Caldentey, J. García, Caballol, N., Legarda, I., López, I. Cabo, Manzanares, L. López, Rivera, M. A. Ávila, Catalán, M. J., Nogueira, V., Borrué, C., Sauco, M. Álvarez, Vela, L., Cubo, E., Castrillo, J. C. Martínez, Alonso, P. Sánchez, Losada, M. G. Alonso, Ariztegui, N. López, Gastón, M. I., Kulisevsky, J., Pagonabarraga, J., Seijo, M., Martínez, J. Ruíz, Valero, C., Kurtis, M., Ardura, J. González, Prieto, C., Mir, P., and Martinez-Martin, P.
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FOS: Psychology ,FOS: Clinical medicine ,170199 Psychology not elsewhere classified ,110319 Psychiatry (incl. Psychotherapy) ,110308 Geriatrics and Gerontology ,110904 Neurology and Neuromuscular Diseases ,Neuroscience - Abstract
Supplemental Material, sj-pdf-2-jgp-10.1177_0891988720964250 for Sleep Problems Are Related to a Worse Quality of Life and a Greater Non-Motor Symptoms Burden in Parkinson’s Disease by Diego Santos-García, E. Suárez Castro, T. de Deus Fonticoba, M. J. Feal Panceiras, J. G. Muñoz Enriquez, J. M. Paz González, C. Cores Bartolomé, L. L. Planellas, J. García Caldentey, N. Caballol, I. Legarda, I. Cabo López, L. López Manzanares, M. A. Ávila Rivera, M. J. Catalán, V. Nogueira, C. Borrué, M. Álvarez Sauco, L. Vela, E. Cubo, J. C. Martínez Castrillo, P. Sánchez Alonso, M. G. Alonso Losada, N. López Ariztegui, M. I. Gastón, J. Kulisevsky, J. Pagonabarraga, M. Seijo, J. Ruíz Martínez, C. Valero, M. Kurtis, J. González Ardura, C. Prieto, P. Mir, P. Martinez-Martin and on behalf of the COPPADIS Study Group in Journal of Geriatric Psychiatry and Neurology
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- 2023
- Full Text
- View/download PDF
11. Supplemental Material, sj-pdf-1-jgp-10.1177_0891988720964250 - Sleep Problems Are Related to a Worse Quality of Life and a Greater Non-Motor Symptoms Burden in Parkinson’s Disease
- Author
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Santos-García, Diego, Castro, E. Suárez, de Deus Fonticoba, T., Panceiras, M. J. Feal, Enriquez, J. G. Muñoz, González, J. M. Paz, Bartolomé, C. Cores, Planellas, L. L., Caldentey, J. García, Caballol, N., Legarda, I., López, I. Cabo, Manzanares, L. López, Rivera, M. A. Ávila, Catalán, M. J., Nogueira, V., Borrué, C., Sauco, M. Álvarez, Vela, L., Cubo, E., Castrillo, J. C. Martínez, Alonso, P. Sánchez, Losada, M. G. Alonso, Ariztegui, N. López, Gastón, M. I., Kulisevsky, J., Pagonabarraga, J., Seijo, M., Martínez, J. Ruíz, Valero, C., Kurtis, M., Ardura, J. González, Prieto, C., Mir, P., and Martinez-Martin, P.
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FOS: Psychology ,FOS: Clinical medicine ,170199 Psychology not elsewhere classified ,110319 Psychiatry (incl. Psychotherapy) ,110308 Geriatrics and Gerontology ,110904 Neurology and Neuromuscular Diseases ,Neuroscience - Abstract
Supplemental Material, sj-pdf-1-jgp-10.1177_0891988720964250 for Sleep Problems Are Related to a Worse Quality of Life and a Greater Non-Motor Symptoms Burden in Parkinson’s Disease by Diego Santos-García, E. Suárez Castro, T. de Deus Fonticoba, M. J. Feal Panceiras, J. G. Muñoz Enriquez, J. M. Paz González, C. Cores Bartolomé, L. L. Planellas, J. García Caldentey, N. Caballol, I. Legarda, I. Cabo López, L. López Manzanares, M. A. Ávila Rivera, M. J. Catalán, V. Nogueira, C. Borrué, M. Álvarez Sauco, L. Vela, E. Cubo, J. C. Martínez Castrillo, P. Sánchez Alonso, M. G. Alonso Losada, N. López Ariztegui, M. I. Gastón, J. Kulisevsky, J. Pagonabarraga, M. Seijo, J. Ruíz Martínez, C. Valero, M. Kurtis, J. González Ardura, C. Prieto, P. Mir, P. Martinez-Martin and on behalf of the COPPADIS Study Group in Journal of Geriatric Psychiatry and Neurology
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- 2023
- Full Text
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12. Staging Parkinson's Disease Combining Motor and Nonmotor Symptoms Correlates with Disability and Quality of Life
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Santos García, Diego, Deus Fonticoba, María Teresa de, Paz González, J. M., Cores Bartolomé, C., Valdés Aymerich, L., Muñoz Enríquez, J. G., Suárez, E., Jesús, S., Aguilar Barberà, Miquel, Pastor, P., Planellas, L. L., Cosgaya, M., García Caldentey, J., Caballol, N., Legarda, I., Hernández-Vara, Jorge, Cabo, I., López Manzanares, L., González Aramburu, I., Ávila-Rivera, M. A, Catalán, M. J., Nogueira, V., Puente, V., García Moreno, José Manuel, Borrué, C., Solano Vila, B., Álvarez Sauco, M., Vela, Lydia, Escalante, S., Cubo, Esther, Carrillo Padilla, F., Martínez Castrillo, J. C., Sánchez Alonso, P., Alonso Losada, M. G., López Ariztegui, N., Gastón, I., Kulisevsky, Jaime, Blázquez Estrada, M., Seijo, M., Rúiz Martínez, J., Valero, C., Kurtis, M., Fàbregues-Boixar i Nebot, Oriol de, González Ardura, J., Ordás, C., López Díaz, L., Mir, P., Martinez-Martin, Pablo, COPPADIS Study Group, None, Universitat Autònoma de Barcelona, Institut Català de la Salut, [Santos García D, Paz González JM, Cores Bartolomé C, Valdés Aymerich L, Muñoz Enríquez JG] CHUAC, Complejo Hospitalario Universitario de A Coruña, A Coruña, Spain. [De Deus Fonticoba T] CHUF, Complejo Hospitalario Universitario de Ferrol, A Coruña, Spain. [Hernández Vara J, de Fábregues O] Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, Universidad de Sevilla. Departamento de Medicina, [Santos Garcia, D.] Complejo Hosp Univ A Coruna, CHUAC, La Coruna, Spain, [Paz Gonzalez, J. M.] Complejo Hosp Univ A Coruna, CHUAC, La Coruna, Spain, [Cores Bartolome, C.] Complejo Hosp Univ A Coruna, CHUAC, La Coruna, Spain, [Valdes Aymerich, L.] Complejo Hosp Univ A Coruna, CHUAC, La Coruna, Spain, [Munoz Enriquez, J. G.] Complejo Hosp Univ A Coruna, CHUAC, La Coruna, Spain, [De Deus Fonticoba, T.] Complejo Hosp Univ Ferrol, CHUF, La Coruna, Spain, [Suarez, E.] Complejo Hosp Univ Ferrol, CHUF, La Coruna, Spain, [Jesus, S.] Univ Seville, Serv Neurol & Neurofisiol Clin, Unidad Trastornos Movimiento, Hosp Univ Virgen Rocio,CSIC,Inst Biomed Sevilla, Seville, Spain, [Mir, P.] Univ Seville, Serv Neurol & Neurofisiol Clin, Unidad Trastornos Movimiento, Hosp Univ Virgen Rocio,CSIC,Inst Biomed Sevilla, Seville, Spain, [Jesus, S.] Ctr Invest Biomed Red Enfermedades Neurodegnerat, CIBERNED, Madrid, Spain, [Gonzalez Aramburu, I.] Ctr Invest Biomed Red Enfermedades Neurodegnerat, CIBERNED, Madrid, Spain, [Kulisevsky, J.] Ctr Invest Biomed Red Enfermedades Neurodegnerat, CIBERNED, Madrid, Spain, [Mir, P.] Ctr Invest Biomed Red Enfermedades Neurodegnerat, CIBERNED, Madrid, Spain, [Martinez-Martin, P.] Ctr Invest Biomed Red Enfermedades Neurodegnerat, CIBERNED, Madrid, Spain, [Aguilar, M.] Hosp Univ Mutua Terrassa, Terrassa, Spain, [Pastor, P.] Hosp Univ Mutua Terrassa, Terrassa, Spain, [Planellas, L. L.] Hosp Clin Barcelona, Barcelona, Spain, [Cosgaya, M.] Hosp Clin Barcelona, Barcelona, Spain, [Garcia Caldentey, J.] Ctr Neurol Oms 42, Palma de Mallorca, Spain, [Caballol, N.] Hosp Moises Broggi, Consorci Sanitari Integral, Barcelona, Spain, [Legarda, I.] Hosp Univ Son Espases, Palma de Mallorca, Spain, [Hernandez Vara, J.] Hosp Univ Vall Hebron, Barcelona, Spain, [de Fabregues, O.] Hosp Univ Vall Hebron, Barcelona, Spain, [Cabo, I.] Complejo Hosp Univ Pontevedra CHOP, Pontevedra, Spain, [Seijo, M.] Complejo Hosp Univ Pontevedra CHOP, Pontevedra, Spain, [Lopez Manzanares, L.] Hosp Univ La Princesa, Madrid, Spain, [Gonzalez Aramburu, I.] Hosp Univ Marques Valdecilla, Santander, Spain, [Avila Rivera, M. A.] Hosp Gen Hosp, Consorci Sanitari Integral, Barcelona, Spain, [Catalan, M. J.] Hosp Univ Clin San Carlos, Madrid, Spain, [Nogueira, V.] Hosp Da Costa, Lugo, Spain, [Puente, V.] Hosp del Mar, Barcelona, Spain, [Garcia Moreno, J. M.] Hosp Univ Virgen Macarena, Seville, Spain, [Borrue, C.] Hosp Infanta Sofia, Madrid, Spain, [Solano Vila, B.] Inst Catala Salut, Inst Assistencia Sanitaria IAS, Girona, Spain, [Alvarez Sauco, M.] Hosp Gen Univ Elche, Elche, Spain, [Vela, L.] Fdn Hosp Alcorcon, Madrid, Spain, [Escalante, S.] Hosp Tortosa Verge Cinta IITVC, Tarragona, Spain, [Cubo, E.] Complejo Asistencial Univ Burgos, Burgos, Spain, [Carrillo Padilla, F.] Hosp Univ Canarias, San Cristobal De Laguna, Santa Cruz De T, Spain, [Martinez Castrillo, J. C.] Hosp Univ Ramon y Cajal, Madrid, Spain, [Sanchez Alonso, P.] Hosp Univ Puerta Hierro, Madrid, Spain, [Alonso Losada, M. G.] Complejo Hosp Univ Vigo CHUVI, Hosp Alvaro Cunqueiro, Vigo, Spain, [Lopez Ariztegui, N.] Complejo Hosp Toledo, Toledo, Spain, [Gaston, I.] Complejo Hosp Navarra, Pamplona, Spain, [Kulisevsky, J.] Hosp Santa Creu & Sant Pau, Barcelona, Spain, [Blazquez Estrada, M.] Hosp Univ Cent Asturias, Oviedo, Spain, [Ruiz Martinez, J.] Hosp Univ Donostia, San Sebastian, Spain, [Valero, C.] Hosp Arnau Vilanova, Valencia, Spain, [Kurtis, M.] Hosp Ruber Int, Madrid, Spain, [Gonzalez Ardura, J.] Hosp Univ Lucus Augusti HULA, Lugo, Spain, [Ordas, C.] Hosp Rey Juan Carlos, Madrid, Spain, [Lopez Diaz, L.] Complejo Hosp Univ Orense CHUO, Orense, Spain, and [COPPADIS Study Grp] Fdn Curemos Parkinson, C Juana Vega 23 2, La Coruna 15004, Spain
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medicine.medical_specialty ,Discapacitats ,Parkinson's disease ,Article Subject ,Degenerative Disorder ,Parkinson, Malaltia de - Prognosi ,Neuroscience (miscellaneous) ,Disease ,Stage ii ,personas::personas con discapacidad [DENOMINACIONES DE GRUPOS] ,Parkinson’s Disease ,03 medical and health sciences ,0302 clinical medicine ,Quality of life ,enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades cerebrales::enfermedades de los ganglios basales::trastornos parkinsonianos::enfermedad de Parkinson [ENFERMEDADES] ,Malaltia de Parkinson ,Internal medicine ,medicine ,Motor and nonmotor symptoms (NMS) ,Stage (cooking) ,RC346-429 ,030304 developmental biology ,ambiente y salud pública::salud pública::medidas epidemiológicas::demografía::estado de salud::calidad de vida [ATENCIÓN DE SALUD] ,Subtypes ,0303 health sciences ,Questionnaire ,business.industry ,Neurodegenerative disorder ,medicine.disease ,humanities ,Scale ,Psychiatry and Mental health ,Environment and Public Health::Public Health::Epidemiologic Measurements::Demography::Health Status::Quality of Life [HEALTH CARE] ,Impact ,Persons::Disabled Persons [NAMED GROUPS] ,Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Basal Ganglia Diseases::Parkinsonian Disorders::Parkinson Disease [DISEASES] ,Neurology. Diseases of the nervous system ,Neurology (clinical) ,Stage iv ,business ,030217 neurology & neurosurgery ,Qualitat de vida - Avaluació ,Research Article - Abstract
COPPADIS Study Group., [Introduction] In a degenerative disorder such as Parkinson’s disease (PD), it is important to establish clinical stages that allow to know the course of the disease. Our aim was to analyze whether a scale combining Hoehn and Yahr’s motor stage (H&Y) and the nonmotor symptoms burden (NMSB) (assessed by the nonmotor symptoms scale (NMSS)) provides information about the disability and the patient’s quality of life (QoL) with regard to a defined clinical stage., [Materials and Methods] Cross-sectional study in which 603 PD patients from the COPPADIS cohort were classified according to H&Y (1, stage I; 2, stage II; 3, stage III; 4, stage IV/V) and NMSB (A: NMSS = 0–20; B: NMSS = 21–40; C: NMSS = 41–70; D: NMSS ≥ 71) in 16 stages (HY.NMSB, from 1A to 4D). QoL was assessed with the PDQ-39SI, PQ-10, and EUROHIS-QOL8 and disability with the Schwab&England ADL (Activities of Daily Living) scale., [Results] A worse QoL and greater disability were observed at a higher stage of H&Y and NMSB (). Combining both (HY.NMSB), patients in stages 1C and 1D and 2C and 2D had significantly worse QoL and/or less autonomy for ADL than those in stages 2A and 2B and 3A and 3B, respectively (; e.g., PDQ-39SI in 1D [n = 15] vs 2A [n = 101]: 28.6 ± 17.1 vs 7.9 ± 5.8; )., [Conclusion] The HY.NMSB scale is simple and reflects the degree of patient involvement more accurately than the H&Y. Patients with a lower H&Y stage may be more affected if they have a greater NMS burden.
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- 2021
13. Risk of Cognitive Impairment in PD Patients with Visual Hallucinations and Subjective Cognitive Complaints
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Garcia D, Fonticoba T, Painceiras M, Rios L, Roca L, Miro C, Canfield H, Jesus S, Pastor P, Cosgaya M, Caldentey J, Caballol N, Legarda I, Vara J, Cabo I, Manzanares L, Aramburu I, Rivera M, Mayordomo V, Nogueira V, Puente V, Garcia-Soto J, Borrue C, Solano B, and Sauco M
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- 2022
14. Constipation Predicts Cognitive Decline in Parkinson's Disease: Results from the COPPADIS Cohort at 2-Year Follow-up and Comparison with a Control Group
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Santos García D, García Roca L, de Deus Fonticoba T, Cores Bartolomé C, Naya Ríos L, Canfield H, Paz González JM, Martínez Miró C, Jesús S, Aguilar M, Pastor P, Planellas L, Cosgaya M, García Caldentey J, Caballol N, Legarda I, Hernández Vara J, Cabo I, López Manzanares L, González Aramburu I, Ávila Rivera MA, Gómez Mayordomo V, Nogueira V, Puente V, Dotor García-Soto J, Borrué C, Solano Vila B, Álvarez Sauco M, Vela L, Escalante S, Cubo E, Carrillo Padilla F, Martínez Castrillo JC, Sánchez Alonso P, Alonso Losada MG, López Ariztegui N, Gastón I, Kulisevsky J, Blázquez Estrada M, Seijo M, Rúiz Martínez J, Valero C, Kurtis M, de Fábregues O, González Ardura J, Alonso Redondo R, Ordás C, López Díaz L LM, McAfee D, Martinez-Martin P, Mir P, and COPPADIS Study Group
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impairment ,Cognition ,Parkinson's disease ,constipation ,non-motor symptoms - Abstract
Background: Constipation has been linked to cognitive impairment development in Parkinson's disease (PD). Objective: Our aim was to analyze cognitive changes observed in PD patients and controls from a Spanish cohort with regards to the presence or not of constipation. Methods: PD patients and controls recruited from 35 centers of Spain from the COPPADIS cohort from January 2016 to November 2017 were followed-up during 2 years. The change in cognitive status from baseline (V0) to 2-year follow-up was assessed with the PD-CRS (Parkinson's Disease Cognitive Rating Scale). Subjects with a score >= 1 on item 21 of the NMSS (Non-Motor Symptoms Scale) at baseline (V0) were considered as "with constipation". Regression analyses were applied for determining the contribution of constipation in cognitive changes. Results: At V0, 39.7% (198/499) of PD patients presented constipation compared to 11.4% of controls (14/123) (p < 0.0001). No change was observed in cognitive status (PD-CRS total score) neither in controls without constipation (from 100.24 +/- 13.72 to 100.27 +/- 13.68; p = 0.971) and with constipation (from 94.71 +/- 10.96 to 93.93 +/- 13.03; p = 0.615). The PD-CRS total score decreased significantly in PD patients with constipation (from 89.14 +/- 15.36 to 85.97 +/- 18.09; p
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- 2022
15. MNCD: A New Tool for Classifying Parkinson ' s Disease in Daily Clinical Practice
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Garcia D, Sauco M, Calopa M, Carrillo F, Sevilla F, Freire E, Ramos R, Kulisevsky J, Esteban J, Legarda I, Luquin M, Castrillo J, Martinez-Martin P, Martinez-Torres I, Mir P, and Ignacio A
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cognition ,Parkinson's disease ,motor symptoms ,non-motor symptoms ,dependency - Abstract
Background and objective: Parkinson's disease (PD) is a clinically heterogeneous disorder in which the symptoms and prognosis can be very different among patients. We propose a new simple classification to identify key symptoms and staging in PD. Patients and Methods: Sixteen movement disorders specialists from Spain participated in this project. The classification was consensually approved after a discussion and review process from June to October 2021. The TNM classification and the National Institutes of Health Stroke Scale (NIHSS) were considered as models in the design. Results: The classification was named MNCD and included 4 major axes: (1) motor symptoms; (2) non-motor symptoms; (3) cognition; (4) dependency for activities of daily living (ADL). Motor axis included 4 sub-axes: (1) motor fluctuations; (2) dyskinesia; (3) axial symptoms; (4) tremor. Four other sub-axes were included in the non-motor axis: (1) neuropsychiatric symptoms; (2) autonomic dysfunction; (3) sleep disturbances and fatigue; (4) pain and sensory disorders. According to the MNCD, 5 stages were considered, from stage 1 (no disabling motor or non-motor symptoms with normal cognition and independency for ADL) to 5 (dementia and dependency for basic ADL). Conclusions: A new simple classification of PD is proposed. The MNCD classification includes 4 major axes and 5 stages to identify key symptoms and monitor the evolution of the disease in patients with PD. It is necessary to apply this proof of concept in a properly designed study.
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- 2022
16. Diplopia Is Frequent and Associated with Motor and Non-Motor Severity in Parkinson’s Disease: Results from the COPPADIS Cohort at 2-Year Follow-Up
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Garcia D, Rios L, Fonticoba T, Bartolome C, Roca L, Painceiras M, Miro C, Canfield H, Jesus S, Aguilar M, Pastor P, Cosgaya M, Caldentey J, Caballol N, Legarda I, Vara J, Cabo I, Manzanares L, Aramburu I, Rivera M, Mayordomo V, Nogueira V, Puente V, Dotor J, Borrue C, Vila B, Sauco M, Vela L, Escalante S, Cubo E, Padilla F, Castrillo J, Alonso P, Losada M, Ariztegui N, Gaston I, Kulisevsky J, Estrada M, Seijo M, Martinez J, Valero C, Kurtis M, de Fabregues O, Ardura J, Redondo R, Ordas C, Diaz L, McAfee D, Martinez-Martin P, Mir P, COPPADIS Study Grp, Instituto de Salud Carlos III, Takeda Pharmaceutical Company, International Parkinson and Movement Disorder Society, AbbVie Pharmaceuticals, Abbott Laboratories, Allergan Foundation, BIAL Foundation, Merz Pharma, UCB Pharma, Zambon, Ministerio de Economía y Competitividad (España), European Commission, Junta de Andalucía, Sociedad Andaluza de Neurología, Jacques and Gloria Gossweiler Foundation, Fundación Alicia Koplowitz, Fundación Mutua Madrileña, Institut Català de la Salut, [Santos-García D, Naya Rios L, Cores Bartolomé C, García Roca L, Feal Painceiras M, Martínez Miró C] Complejo Hospitalario Universitario de A Coruña (CHUAC), A Coruña, Spain. [de Deus Fonticoba T, Canfield H] Complejo Hospitalario Universitario de Ferrol (CHUF), A Coruña, Spain. [Jesús S, Mir P] Unidad de Trastornos del Movimiento, Servicio de Neurología y Neurofisiología Clínica, Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío, Universidad de Sevilla, Sevilla, Spain. Centro de Investigación Biomédica en Red Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain. [Aguilar M, Pastor P] Hospital Universitari Mutua de Terrassa, Terrassa , Spain. [Cosgaya M] Hospital Clínic de Barcelona, Barcelona, Spain. [García-Caldentey J] Centro Neurológico Oms, Palma de Mallorca, Spain. [Caballol N] Consorci Sanitari Integral, Hospital Moisés Broggi, Barcelona, Spain. [Legarda I] Hospital Universitari Son Espases, Palma de Mallorca, Spain. [Hernández-Vara J, de Fábregues O] Vall d'Hebron Hospital Universitari, Barcelona, Spain. [Cabo López I, Seijo M] Complexo Hospitalario Universitario de Pontevedra (CHOP), Pontevedra, Spain. [López Manzanares L] Hospital Universitario La Princesa, Madrid, Spain. [González Aramburu I] Centro de Investigación Biomédica en Red Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain. Hospital Universitario Marqués de Valdecilla, Santander, Spain. [Ávila Rivera MA] Consorci Sanitari Integral, Hospital General de L'Hospitalet, L'Hospitalet de Llobregat, Spain. [Gómez-Mayordomo V] Hospital Universitario Clínico San Carlos, Madrid, Spain. [Nogueira V] Hospital Da Costa, Burela, Lugo, Spain. [Puente V] Hospital del Mar, Barcelona, Spain. [Dotor J] Hospital Universitario Virgen Macarena, Sevilla, Spain. [Borrué C] Hospital Infanta Sofía, Madrid, Spain. [Solano Vila B] Institut d'Assistència Sanitària (IAS), Institut Català de la Salut (ICS), Salt, Spain. [Álvarez Sauco M] Hospital General Universitario de Elche, Elche, Spain. [Vela-Desojo L] Fundación Hospital de Alcorcón, Madrid, Spain. [Escalante S] Hospital de Tortosa Verge de la Cinta (HTVC), Tortosa, Spain. [Cubo E] Complejo Asistencial Universitario de Burgos, Burgos, Spain. [Carrillo-Padilla F] Hospital Universitario de Canarias, Santa Cruz de Tenerife, Spain. [Martínez Castrillo JC] Hospital Universitario Ramón y Cajal, IRYCIS, Madrid, Spain. [Sánchez Alonso P] Hospital Universitario Puerta de Hierro, Madrid, Spain. [Alonso Losada MG] Hospital Álvaro Cunqueiro, Complexo Hospitalario Universitario de Vigo (CHUVI), Vigo, Spain. [López-Ariztegui N] Complejo Hospitalario de Toledo, Toledo, Spain. [Gastón I] Complejo Hospitalario de Navarra, Pamplona, Spain. [Kulisevsky J] Centro de Investigación Biomédica en Red Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain. Hospital de Sant Pau, Barcelona, Spain. [Blázquez Estrada M] Hospital Universitario Central de Asturias, Oviedo, Spain. [Ruiz-Martínez J] Hospital Universitario Donostia, San Sebastián, Spain. [Valero C] Hospital Arnau de Vilanova, València, Spain. [Kurtis M] Hospital Ruber Internacional, Madrid, Spain. [González Ardura J] Hospital de Cabueñes, Gijón, Spain. [Alonso Redondo R] Universitario Lucus Augusti (HULA), Lugo, Spain. [Ordás C] Hospital Rey Juan Carlos, Madrid, Spain. [López Díaz LM] Complexo Hospitalario Universitario de Ourense (CHUO), Ourense, Spain. [McAfee D] University of Maryland School of Medicine, Baltimore, USA. [Martinez-Martin P] Centro de Investigación Biomédica en Red Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain, and Institut d'Assistència Sanitària
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enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::trastornos del movimiento::trastornos parkinsonianos::enfermedades del sistema nervioso::enfermedad de Parkinson [ENFERMEDADES] ,Medicine (General) ,changes ,motor ,Parkinson’s disease ,phenotype ,PIGD ,Tremor ,endocrine system diseases ,genetic structures ,Parkinson's disease ,Clinical Biochemistry ,Tremolor ,Nervous System Diseases::Central Nervous System Diseases::Nervous System Diseases::Central Nervous System Diseases::Movement Disorders::Parkinsonian Disorders::Nervous System Diseases::Parkinson Disease [DISEASES] ,enfermedades del sistema nervioso::manifestaciones neurológicas::discinesias::temblor [ENFERMEDADES] ,Article ,eye diseases ,Fenotip ,R5-920 ,Genetic Phenomena::Phenotype [PHENOMENA AND PROCESSES] ,Parkinson, Malaltia de ,fenómenos genéticos::fenotipo [FENÓMENOS Y PROCESOS] ,Pathological Conditions, Signs and Symptoms::Signs and Symptoms::Neurologic Manifestations::Dyskinesias::Tremor [DISEASES] - Abstract
[Background and objective] Diplopia is relatively common in Parkinson’s disease (PD) but is still understudied. Our aim was to analyze the frequency of diplopia in PD patients from a multicenter Spanish cohort, to compare the frequency with a control group, and to identify factors associated with it., [Patients and Methods] PD patients who were recruited from January 2016 to November 2017 (baseline visit; V0) and evaluated again at a 2-year ± 30 days follow-up (V2) from 35 centers of Spain from the COPPADIS cohort were included in this longitudinal prospective study. The patients and controls were classified as “with diplopia” or “without diplopia” according to item 15 of the Non-Motor Symptoms Scale (NMSS) at V0, V1 (1-year ± 15 days), and V2 for the patients and at V0 and V2 for the controls., [Results] The frequency of diplopia in the PD patients was 13.6% (94/691) at V0 (1.9% in controls [4/206]; p < 0.0001), 14.2% (86/604) at V1, and 17.1% (86/502) at V2 (0.8% in controls [1/124]; p < 0.0001), with a period prevalence of 24.9% (120/481). Visual hallucinations at any visit from V0 to V2 (OR = 2.264; 95%CI, 1.269–4.039; p = 0.006), a higher score on the NMSS at V0 (OR = 1.009; 95%CI, 1.012–1.024; p = 0.015), and a greater increase from V0 to V2 on the Unified Parkinson’s Disease Rating Scale–III (OR = 1.039; 95%CI, 1.023–1.083; p < 0.0001) and Neuropsychiatric Inventory (OR = 1.028; 95%CI, 1.001–1.057; p = 0.049) scores were independent factors associated with diplopia (R2 = 0.25; Hosmer and Lemeshow test, p = 0.716)., [Conclusions] Diplopia represents a frequent symptom in PD patients and is associated with motor and non-motor severity., Martínez-Martin P. has received honoraria from National School of Public Health (ISCIII), Editori-al Viguera and Takeda Pharmaceuticals for lecturing in courses, and from the International Parkinson and Movement Disorder Society (MDS) for management of the Program on Rating Scales. Mir P. has received honoraria from AbbVie, Abbott, Allergan, Bial, Merz, UCB, and Zambon and have received grants from the Spanish Ministry of Economy and Competitiveness [PI16/01575], co-founded by ISCIII (Subdirección General de Evaluación y Fomento de la Investigación) and by Fondo Europeo de Desarrollo Regional (FEDER), the Consejería de Economía, Innovación, Ciencia y Empleo de la Junta de Andalucía [CVI-02526, CTS-7685], the Consejería de Salud y Bienestar Social de la Junta de Andalucía [ PI-0437-2012, PI-0471-2013], the Sociedad Andaluza de Neurología, the Jacques and Gloria Gossweiler Foundation, the Fundación Alicia Koplowitz, the Fundación Mutua Madrileña.
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- 2021
17. A European Observational Study to Evaluate the Safety and the Effectiveness of Safinamide in Routine Clinical Practice: The SYNAPSES Trial
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Abbruzzese, G., Kulisevsky, J., Bergmans, B., Gomez-Esteban, J. C., Kagi, G., Raw, J., Stefani, A., Warnecke, T., Jost, W. H., Bourgeois, P., Cras, P., de Klippel, N., Dethy, S., Franco, G., Garraux, G., Geens, K., Jacquerye, P., Jeanjean, A., Santens, P., Supiot, F., van der Linden, C., Blersch, W. K., Delf, M., Hellwig, B., Herbst, H. P., Kupsch, A., Lang, M., Muhlack, S., Nastos, I., Oehlwein, C., Schlegel, E., Schwarz, J., Woitalla, D., Aguggia, M., Avarello, T., Barone, P., Baruffaldi, R., Belgrado, E., Bentivoglio, A. R., Bosco, D., Calabresi, P., Callegarini, C., Cannas, A., Centonze, D., Ceravolo, R., Colosimo, C., Comi, C., Contardi, S., Cortelli, P., Cossu, G., D'Amelio, M., de Pandis, M. F., Denaro, A., Di Lazzaro, V., Fabbrini, G., Gasparoli, E., Guidi, M., Iliceto, G., Lopiano, L., Manganotti, P., Marconi, R., Marini, C., Marsala, S. Z., Mauri, M., Moleri, M., Monge, A., Morgante, F., Negrotti, A., Nordera, G., Onofrj, M., Pacchetti, C., Padovani, A., Pontieri, F. E., Priori, A., Quatrale, R., Sensi, M., Tamma, F., Tessitore, A., Tinazzi, M., Vitale, C., Volonte, M. A., Zappia, M., Zecchinelli, A. L., Arbelo Gonzalez, J. M., Bayes, A., Blazquez, M., Calopa Garriga, M., Callen, A., Campos Arillo, V., Cubo, E., de Fabregues, O., Escalante Arroyo, S., Espinosa Rosso, R., Esquivel Lopez, A., Freire, E., Garcia Cobos, E., Garcia Moreno, J. M., Gonzalez-Ardura, J., Grandas Perez, F., Kurtis, M., Juni, J., Legarda, I., Leiva, C., Lopez Aristegui, N., Lopez Manzanares, L., Lozano, J. J., Luquin, M. R., Martinez Castrillo, J. C., Marti Domenech, M. J., Martinez, I., Mata, M., Mir Rivera, P., Pascual Sedano, B., Rodriguez Oroz, M. C., Rodriguez Uranga, J. J., Sanchez, S., Santos Garcia, D., Solano, B., Vaamonde Gamo, J., Accolla, E., Bohlhalter, S., Kalin, A., Michelis, J., Carrol, C., Henderson, E., Raha, S., Silva, N., Silverdale, M., Universidad de Sevilla. Departamento de Medicina, Abbruzzese G., Kulisevsky J., Bergmans B., Gomez-Esteban J.C., Kagi G., Raw J., Stefani A., Warnecke T., Jost W.H., Bourgeois P., Cras P., de Klippel N., Dethy S., Franco G., Garraux G., Geens K., Jacquerye P., Jeanjean A., Santens P., Supiot F., van der Linden C., Blersch W.K., Delf M., Hellwig B., Herbst H.P., Kupsch A., Lang M., Muhlack S., Nastos I., Oehlwein C., Schlegel E., Schwarz J., Woitalla D., Aguggia M., Avarello T., Barone P., Baruffaldi R., Belgrado E., Bentivoglio A.R., Bosco D., Calabresi P., Callegarini C., Cannas A., Centonze D., Ceravolo R., Colosimo C., Comi C., Contardi S., Cortelli P., Cossu G., D'Amelio M., de Pandis M.F., Denaro A., Di Lazzaro V., Fabbrini G., Gasparoli E., Guidi M., Iliceto G., Lopiano L., Manganotti P., Marconi R., Marini C., Marsala S.Z., Mauri M., Moleri M., Monge A., Morgante F., Negrotti A., Nordera G., Onofrj M., Pacchetti C., Padovani A., Pontieri F.E., Priori A., Quatrale R., Sensi M., Tamma F., Tessitore A., Tinazzi M., Vitale C., Volonte M.A., Zappia M., Zecchinelli A.L., Arbelo Gonzalez J.M., Bayes A., Blazquez M., Calopa Garriga M., Callen A., Campos Arillo V., Cubo E., de Fabregues O., Escalante Arroyo S., Espinosa Rosso R., Esquivel Lopez A., Freire E., Garcia Cobos E., Garcia Moreno J.M., Gonzalez-Ardura J., Grandas Perez F., Kurtis M., Juni J., Legarda I., Leiva C., Lopez Aristegui N., Lopez Manzanares L., Lozano J.J., Luquin M.R., Martinez Castrillo J.C., Marti Domenech M.J., Martinez I., Mata M., Mir Rivera P., Pascual Sedano B., Rodriguez Oroz M.C., Rodriguez Uranga J.J., Sanchez S., Santos Garcia D., Solano B., Vaamonde Gamo J., Accolla E., Bohlhalter S., Kalin A., Michelis J., Carrol C., Henderson E., Raha S., Silva N., and Silverdale M.
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Research Report ,Male ,0301 basic medicine ,Benzylamines ,Parkinson's disease ,Outcome Assessment ,Comorbidity ,Disease ,Real-life evaluation ,chemistry.chemical_compound ,0302 clinical medicine ,Outcome Assessment, Health Care ,80 and over ,MAO-B inhibitor ,Aged, 80 and over ,Safinamide ,education.field_of_study ,Alanine ,Mental Disorders ,Parkinson Disease ,Middle Aged ,Aged ,Drug-Related Side Effects and Adverse Reactions ,Europe ,Female ,Follow-Up Studies ,Humans ,Monoamine Oxidase Inhibitors ,Retrospective Studies ,Settore MED/26 - NEUROLOGIA ,Erratum ,Cohort study ,medicine.medical_specialty ,Population ,MEDLINE ,03 medical and health sciences ,Cellular and Molecular Neuroscience ,Internal medicine ,medicine ,Adverse effect ,education ,business.industry ,medicine.disease ,Health Care ,030104 developmental biology ,chemistry ,Parkinson’s disease ,Observational study ,Neurology (clinical) ,business ,030217 neurology & neurosurgery - Abstract
Background: Safinamide modulates both dopaminergic and glutamatergic systems with positive effects on motor and non-motor symptoms of Parkinson's disease (PD). The drug utilization study SYNAPSES was designed to investigate the use of safinamide in routine clinical practice, as recommended by the European Medicines Agency. Objective: To describe the occurrence of adverse events in PD patients treated with safinamide in real-life conditions. Methods: The SYNAPSES trial is an observational, European, multicenter, retrospective-prospective cohort study. Patients were followed up to 12 months with analyses performed in the overall population and in patients aged >75 years, with relevant comorbidities and with psychiatric conditions. Results: Of the 1610 patients included, 82.4% were evaluable after 12 months with 25.1% of patients >75 years, 70.8% with relevant comorbidities and 42.4% with psychiatric conditions. During observation 45.8% patients experienced adverse events, 27.7% patients had adverse drug reactions and 9.2% patients had serious adverse events. The adverse events were those already described in the patients' information leaflet. The majority were mild or moderate and completely resolved and no differences were detected between the subgroup of patients. Clinically significant improvements were seen in the UPDRS motor score and in the UPDRS total score in >= 40% of patients, according to the criteria developed by Shulman et al. Conclusion: The SYNAPSES study confirms the good safety profile of safinamide even in special groups of patients. Motor complications and motor scores improved with clinically significant results in the UPDRS scale maintained in the long-term.
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- 2022
18. Manejo de la atención paliativa de los pacientes con enfermedad de Parkinson y otros trastornos del movimiento en España. Encuesta Nacional a neurólogos
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ÁLVAREZ M, GARCIA R, Legarda I, Carrillo F, Fernandez J, Marti S, Gonzalez B, Moya A, and Santos D
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- 2021
19. Predictors of clinically significant quality of life impairment in Parkinson's disease
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Garcia D, Fonticoba T, Cores C, Munoz G, Gonzalez J, Miro C, Suarez E, Jesus S, Aguilar M, Pastor P, Planellas L, Cosgaya M, Caldentey J, Caballol N, Legarda I, Vara J, Cabo I, Manzanares L, Aramburu I, Rivera M, Catalan M, Nogueira V, Puente V, de Arcos M, Borrue C, Vila B, Sauco M, Vela L, Escalante S, Cubo E, Padilla F, Castrillo J, Alonso P, Losada M, Ariztegui N, Gaston I, Clavero P, Kulisevsky J, Estrada M, Seijo M, Martinez J, Valero C, Kurtis M, de Fabregues O, Ardura J, Ordas C, Diaz L, McAfee D, Martinez-Martin P, Mir P, and COPPADIS Study Grp
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Quality of life (QOL) plays an important role in independent living in Parkinson's disease (PD) patients, being crucial to know what factors impact QoL throughout the course of the disease. Here we identified predictors of QoL impairment in PD patients from a Spanish cohort. PD patients recruited from 35 centers of Spain from the COPPADIS cohort from January 2016, to November 2017, were followed up during 2 years. Health-related QoL (HRQoL) and global QoL (GQoL) were assessed with the 39-item Parkinson's disease Questionnaire (PDQ-39) and the EUROHIS-QOL 8-item index (EUROHIS-QOL8), respectively, at baseline (V0) and at 24 months +/- 1 month (V2). Clinically significant QoL impairment was defined as presenting an increase (PDQ-39SI) or decrement (EUROHIS-QOL8) at V2 >= 10% of the score at baseline (V0). A comparison with a control group was conducted for GQoL. GQoL did not change significantly in PD patients (N = 507; p = 0.686) or in the control group (N = 119; p = 0.192). The mean PDQ-39SI was significantly increased in PD patients (62.7 +/- 8.5 years old; 58.8% males; N = 500) by 21.6% (from 16.7 +/- 13 to 20.3 +/- 16.4; p < 0.0001) at V2. Ninety-three patients (18.6%) presented a clinically significant HRQoL impairment at V2. To be younger (OR = 0.896; 95% CI 0.829-0.968; p = 0.006), to be a female (OR = 4.181; 95% CI 1.422-12.290; p = 0.009), and to have a greater increase in BDI-II (Beck Depression Inventory-II) (OR = 1.139; 95% CI 1.053-1.231; p = 0.001) and NMSS (Non-Motor Symptoms Scale) (OR = 1.052; 95% CI 1.027-1.113; p < 0.0001) total scores from V0 to V2 were associated with clinically significant HRQoL impairment at the 2-year follow-up (Hosmer-Lemeshow test, p = 0.665; R-2 = 0.655). An increase in >= 5 and >= 10 points of BDI-II and NMSS total score at V2 multiplied the probability of presenting clinically significant HRQoL impairment by 5 (OR = 5.453; 95% CI 1.663-17.876; p = 0.005) and 8 (OR = 8.217; 95% CI, 2.975-22.696; p = 0.002), respectively. In conclusion, age, gender, mood, and non-motor impairment were associated with clinically significant HRQoL impairment after the 2-year follow-up in PD patients.
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- 2021
20. Management of Parkinson's disease and other movement disorders in women of childbearing age: Part 2
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Garcia-Ramos, R, Santos-Garcia, D, Alonso-Canovas, A, Alvarez-Sauco, M, Ares, B, Avila, A, Caballol, N, Carrillo, F, Sevilla, FE, Freire, E, Esteban, JCG, Legarda, I, Manzanares, LL, Valdes, EL, Martinez-Torres, I, Mata, M, Parees, I, Pascual-Sedano, B, Castrillo, JCM, and Mir, P
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Dystonia ,Chorea ,Tourette syndrome ,Pregnancy ,Restless legs ,syndrome - Abstract
Introduction: Many diseases associated with hyperkinetic movement disorders manifest in women of childbearing age. It is important to understand the risks of these diseases during pregnancy, and the potential risks of treatment for the fetus. Objectives: This study aims to define the clinical characteristics and the factors affecting the lives of women of childbearing age with dystonia, chorea. Tourette syndrome, tremor, and restless legs syndrome, and to establish guidelines for management of pregnancy and breastfeeding in these patients. Results: This consensus document was developed through an exhaustive literature search and a discussion of the content by a group of movement disorder experts from the Spanish Society of Neurology. Conclusions: We must evaluate the risks and benefits of treatment in all women with hyper kinetic movement disorders, whether pre-existing or with onset during pregnancy, and aim to reduce effective doses as much as possible or to administer drugs only when necessary. In hereditary diseases, families should be offered genetic counselling. It is important to recognise movement disorders triggered during pregnancy, such as certain types of chorea and restless legs syndrome. (C) 2020 Sociedad Espanola de Neurologia. Published by Elsevier Espana, S.L.U.
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- 2021
21. Mood in Parkinson's disease: From early- to late-stage disease
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Santos-Garcia D, De Deus F, Cores B, Valdes A, Suarez C, Aneiros A, Jesus S, Aguilar M, Pastor P, Planellas L, Cosgaya M, Garcia C, Caballol N, Legarda I, Hernandez V, Cabo I, Lopez M, Gonzalez A, Avila R, Jose C, Nogueira V, Puente V, Garcia M, Borrue C, Solano V, Alvarez S, Vela L, Escalante S, Cubo E, Carrillo P, Martinez C, Sanchez A, Alonso L, Lopez A, Gaston I, Kulisevsky J, Blazquez E, Seijo M, Ruiz M, Valero C, Kurtis M, de Fabregues-Boixar O, Prieto J, Lopez D, McAfee D, Mir P, and COPPADIS Study Grp
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s disease ,quality of life ,mood ,depression ,disease duration ,Parkinson&apos ,Parkinson's disease - Abstract
BACKGROUND: Although depression is known to be frequent in Parkinson's disease (PD), it is unclear how mood can change and/or impact on patient's quality of life (QoL) over time. Our aim was to analyze the frequency of depression, mood related factors and the contribution of mood to a patient's QoL perception in regard to disease duration. METHODS: PD patients recruited from the COPPADIS cohort from January 2016 to November 2017 were included in this cross-sectional study. Three groups were defined
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- 2021
22. Predictors of clinically significant quality of life impairment in Parkinson's disease
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Santos García, Diego, de Deus Fonticoba, Teresa, Cores Bartolomé, Carlos, Muñoz, G., Paz González, J. M., Martínez Miró, C., Suárez, E., Jesús, S., Aguilar Barberà, Miquel, Pastor, P., Planellas, L., Cosgaya, Marina, García Caldentey, J., Caballol, Nuria, Legarda, I., Hernández-Vara, Jorge, Cabo-Lopez, Iria, López Manzanares, L., González Aramburu, I., Ávila, Asunción, Catalán, M. J., Nogueira, V., Puente, V., Ruíz de Arcos, M., Borrué, Carmen, Solano Vila, B., Álvarez Sauco, M., Vela, Lydia, Escalante, Sonia, Cubo, Esther, Carrillo Padilla, Francisco, Martínez-Castrillo, Juan Carlos, Sánchez Alonso, P., Alonso Losada, M. G., López Ariztegui, N, Gastón, I., Clavero, P., Kulisevsky, Jaime, Blázquez Estrada, Marta, Seijo, M., Rúiz Martínez, J., Valero, C., Kurtis, M., Fàbregues-Boixar i Nebot, Oriol de, González-Ardura, J, Ordás, C., López Díaz, L. M., McAfee, D., Martinez-Martin, P., Mir, P., Adarmes, D. A., Almeria, Marta, Alonso-Cánovas, Araceli, Alonso Frech, Fernando, Alonso Redondo, Rubén, Álvarez, I., Aneiros Díaz, Á., Arnáiz, S., Arribas, S., Ascunce Vidondo, A., Bernardo Lambrich, N., Bejr-Kasem Marco, Helena, Botí, M. Ángeles, Buongiorno, M. T., Cabello González, C., Cámara, Ana, Canfield Medina, H., Carrillo, F., Casas, E., Cortina Fernández, A., Cots-Foraster, Anna, Crespo Cuevas, Ane Miren, Díez-Fairen, M., Dotor García-Soto, J., Erro, E., Estelrich Peyret, E., Fernández Guillán, N., Gámez, Pedro, Gallego, Miguel, García Campos, C., García Moreno, José Manuel, Gómez Garre, M. P., Gómez Mayordomo, V., González Aloy, J., González García, B., González Palmás, M. J., Toledo, G., Gabriel, R., Golpe Díaz, A., Grau Solá, M., Guardia, G., Horta, Andrea, Idoate Calderón, D., Infante, J., Labandeira, C., Labrador-Espinosa, Miguel A, Lacruz, F., Lage Castro, M., Lastres Gómez, S., López Seoane, B., Lucas del Pozo, S., Macías, Y., Mata, M., Martí Andres, G., Martí, M. J., Meitín, M. T., Menéndez González, M., Méndez del Barrio, C., Miranda Santiago, J., Casado, M., María, I., Moreno Diéguez, A., Novo Amado, A., Novo Ponte, S., Pagonabarraga Mora, Javier, Pareés, I., Pascual-Sedano, Berta María, Pérez Fuertes, A., Pérez Noguera, R., Planas-Ballvé, A., Prats, M. A., Prieto Jurczynska, C., Pueyo Morlans, M., Puig-Davi, Arnau, Redondo Rafales, N., Rodríguez Méndez, L., Rodríguez Pérez, A. B., Roldán, F., Sánchez-Carpintero, M., Sánchez Díez, G., Sánchez Rodríguez, A., Santacruz, P., Segundo Rodríguez, J. C., Sierra Peña, M., Tartari, J. P., Vargas, L., Villanueva, C., Vives-Pastor, B, Villar, M. D., Institut Català de la Salut, [Santos García D, Cores C, Muñoz G, Paz González JM, Martínez Miró C] CHUAC, Complejo Hospitalario Universitario de A Coruña, A Coruña, Spain. [de Deus Fonticoba T] CHUF, Complejo Hospitalario Universitario de Ferrol, A Coruña, Spain. [Hernández Vara J, de Fábregues O] Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, Universidad de Cantabria, AbbVie Pharmaceuticals, Abbott Laboratories, Allergan Foundation, BIAL Foundation, Merz Pharma, UCB Pharma, Zambon, Ministerio de Economía y Competitividad (España), Instituto de Salud Carlos III, European Commission, Junta de Andalucía, Sociedad Andaluza de Neurología, Jacques and Gloria Gossweiler Foundation, Fundación Alicia Koplowitz, and Fundación Mutua Madrileña
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Quality of life ,Qualitat de vida--Avaluació ,Parkinson's disease ,Parkinson, Malaltia de - Prognosi ,Nervous System Diseases::Nervous System Diseases::Nervous System Diseases::Neurodegenerative Diseases::Parkinson Disease [DISEASES] ,Article ,humanities ,Environment and Public Health::Public Health::Epidemiologic Measurements::Demography::Health Status::Quality of Life [HEALTH CARE] ,Cellular and Molecular Neuroscience ,enfermedades del sistema nervioso::enfermedades del sistema nervioso::enfermedades del sistema nervioso::enfermedades neurodegenerativas::enfermedad de Parkinson [ENFERMEDADES] ,Neurology ,Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Disease Progression::Clinical Deterioration [DISEASES] ,Neurology. Diseases of the nervous system ,Neurology (clinical) ,Parkinson, Malaltia de ,RC346-429 ,afecciones patológicas, signos y síntomas::procesos patológicos::atributos de la enfermedad::progresión de la enfermedad::deterioro clínico [ENFERMEDADES] ,Qualitat de vida - Avaluació ,ambiente y salud pública::salud pública::medidas epidemiológicas::demografía::estado de salud::calidad de vida [ATENCIÓN DE SALUD] - Abstract
COPPADIS Study Group., Quality of life (QOL) plays an important role in independent living in Parkinson’s disease (PD) patients, being crucial to know what factors impact QoL throughout the course of the disease. Here we identified predictors of QoL impairment in PD patients from a Spanish cohort. PD patients recruited from 35 centers of Spain from the COPPADIS cohort from January 2016, to November 2017, were followed up during 2 years. Health-related QoL (HRQoL) and global QoL (GQoL) were assessed with the 39-item Parkinson’s disease Questionnaire (PDQ-39) and the EUROHIS-QOL 8-item index (EUROHIS-QOL8), respectively, at baseline (V0) and at 24 months ± 1 month (V2). Clinically significant QoL impairment was defined as presenting an increase (PDQ-39SI) or decrement (EUROHIS-QOL8) at V2 ≥ 10% of the score at baseline (V0). A comparison with a control group was conducted for GQoL. GQoL did not change significantly in PD patients (N = 507; p = 0.686) or in the control group (N = 119; p = 0.192). The mean PDQ-39SI was significantly increased in PD patients (62.7 ± 8.5 years old; 58.8% males; N = 500) by 21.6% (from 16.7 ± 13 to 20.3 ± 16.4; p, Mir P. has received honoraria from AbbVie, Abbott, Allergan, Bial, Merz, UCB and Zambon and have received grants from the Spanish Ministry of Economy and Competitiveness [PI16/01575] co-founded by ISCIII (Subdirección General de Evaluación y Fomento de la Investigación) and by Fondo Europeo de Desarrollo Regional (FEDER), the Consejería de Economía, Innovación, Ciencia y Empleo de la Junta de Andalucía [CVI-02526, CTS-7685], the Consejería de Salud y Bienestar Social de la Junta de Andalucía [PI-0437-2012, PI-0471-2013], the Sociedad Andaluza de Neurología, the Jacques and Gloria Gossweiler Foundation, the Fundación Alicia Koplowitz, the Fundación Mutua Madrileña.
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- 2021
23. A European observational study to evaluate the safety and the effectiveness of safinamide in routine clinical practice: The SynapSES trial
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Abbruzzese, G., Kulisevsky, J., Bergmans, B., Gomez-Esteban, J. C., Kagi, G., Raw, J., Stefani, A., Warnecke, T., Jost, W. H., Bourgeois, P., Cras, P., de Klippel, N., Dethy, S., Franco, G., Garraux, G., Geens, K., Jacquerye, P., Jeanjean, A., Santens, P., Supiot, F., van der Linden, C., Blersch, W. K., Delf, M., Hellwig, B., Herbst, H. P., Kupsch, A., Lang, M., Muhlack, S., Nastos, I., Oehlwein, C., Schlegel, E., Schwarz, J., Woitalla, D., Aguggia, M., Avarello, T., Barone, P., Baruffaldi, R., Belgrado, E., Bentivoglio, Anna Rita, Bosco, D., Calabresi, Paolo, Callegarini, C., Cannas, A., Centonze, D., Ceravolo, R., Colosimo, C., Comi, C., Contardi, S., Cortelli, P., Cossu, G., D'Amelio, M., de Pandis, M. F., Denaro, A., Di Lazzaro, V., Fabbrini, G., Gasparoli, E., Guidi, M., Iliceto, G., Lopiano, L., Manganotti, P., Marconi, R., Marini, C., Marsala, S. Z., Mauri, M., Moleri, M., Monge, A., Morgante, F., Negrotti, A., Nordera, G., Onofrj, M., Pacchetti, C., Padovani, A., Pontieri, F. E., Priori, A., Quatrale, R., Sensi, M., Tamma, F., Tessitore, A., Tinazzi, M., Vitale, C., Volonte, M. A., Zappia, M., Zecchinelli, A. L., Arbelo Gonzalez, J. M., Bayes, A., Blazquez, M., Calopa Garriga, M., Callen, A., Campos Arillo, V., Cubo, E., de Fabregues, O., Escalante Arroyo, S., Espinosa Rosso, R., Esquivel Lopez, A., Freire, E., Garcia Cobos, E., Garcia Moreno, J. M., Gonzalez-Ardura, J., Grandas Perez, F., Kurtis, M., Juni, J., Legarda, I., Leiva, C., Lopez Aristegui, N., Lopez Manzanares, L., Lozano, J. J., Luquin, M. R., Martinez Castrillo, J. C., Marti Domenech, M. J., Martinez, I., Mata, M., Mir Rivera, P., Pascual Sedano, B., Rodriguez Oroz, M. C., Rodriguez Uranga, J. J., Sanchez, S., Santos Garcia, D., Solano, B., Vaamonde Gamo, J., Accolla, E., Bohlhalter, S., Kalin, A., Michelis, J., Carrol, C., Henderson, E., Raha, S., Silva, N., Silverdale, M., Bentivoglio A. R. (ORCID:0000-0002-9663-095X), Calabresi P. (ORCID:0000-0003-0326-5509), Abbruzzese, G., Kulisevsky, J., Bergmans, B., Gomez-Esteban, J. C., Kagi, G., Raw, J., Stefani, A., Warnecke, T., Jost, W. H., Bourgeois, P., Cras, P., de Klippel, N., Dethy, S., Franco, G., Garraux, G., Geens, K., Jacquerye, P., Jeanjean, A., Santens, P., Supiot, F., van der Linden, C., Blersch, W. K., Delf, M., Hellwig, B., Herbst, H. P., Kupsch, A., Lang, M., Muhlack, S., Nastos, I., Oehlwein, C., Schlegel, E., Schwarz, J., Woitalla, D., Aguggia, M., Avarello, T., Barone, P., Baruffaldi, R., Belgrado, E., Bentivoglio, Anna Rita, Bosco, D., Calabresi, Paolo, Callegarini, C., Cannas, A., Centonze, D., Ceravolo, R., Colosimo, C., Comi, C., Contardi, S., Cortelli, P., Cossu, G., D'Amelio, M., de Pandis, M. F., Denaro, A., Di Lazzaro, V., Fabbrini, G., Gasparoli, E., Guidi, M., Iliceto, G., Lopiano, L., Manganotti, P., Marconi, R., Marini, C., Marsala, S. Z., Mauri, M., Moleri, M., Monge, A., Morgante, F., Negrotti, A., Nordera, G., Onofrj, M., Pacchetti, C., Padovani, A., Pontieri, F. E., Priori, A., Quatrale, R., Sensi, M., Tamma, F., Tessitore, A., Tinazzi, M., Vitale, C., Volonte, M. A., Zappia, M., Zecchinelli, A. L., Arbelo Gonzalez, J. M., Bayes, A., Blazquez, M., Calopa Garriga, M., Callen, A., Campos Arillo, V., Cubo, E., de Fabregues, O., Escalante Arroyo, S., Espinosa Rosso, R., Esquivel Lopez, A., Freire, E., Garcia Cobos, E., Garcia Moreno, J. M., Gonzalez-Ardura, J., Grandas Perez, F., Kurtis, M., Juni, J., Legarda, I., Leiva, C., Lopez Aristegui, N., Lopez Manzanares, L., Lozano, J. J., Luquin, M. R., Martinez Castrillo, J. C., Marti Domenech, M. J., Martinez, I., Mata, M., Mir Rivera, P., Pascual Sedano, B., Rodriguez Oroz, M. C., Rodriguez Uranga, J. J., Sanchez, S., Santos Garcia, D., Solano, B., Vaamonde Gamo, J., Accolla, E., Bohlhalter, S., Kalin, A., Michelis, J., Carrol, C., Henderson, E., Raha, S., Silva, N., Silverdale, M., Bentivoglio A. R. (ORCID:0000-0002-9663-095X), and Calabresi P. (ORCID:0000-0003-0326-5509)
- Abstract
Background: Safinamide modulates both dopaminergic and glutamatergic systems with positive effects on motor and non-motor symptoms of Parkinson's disease (PD). The drug utilization study SYNAPSES was designed to investigate the use of safinamide in routine clinical practice, as recommended by the European Medicines Agency. Objective: To describe the occurrence of adverse events in PD patients treated with safinamide in real-life conditions. Methods: The SYNAPSES trial is an observational, European, multicenter, retrospective-prospective cohort study. Patients were followed up to 12 months with analyses performed in the overall population and in patients aged >75 years, with relevant comorbidities and with psychiatric conditions. Results: Of the 1610 patients included, 82.4% were evaluable after 12 months with 25.1% of patients >75 years, 70.8% with relevant comorbidities and 42.4% with psychiatric conditions. During observation 45.8% patients experienced adverse events, 27.7% patients had adverse drug reactions and 9.2% patients had serious adverse events. The adverse events were those already described in the patients' information leaflet. The majority were mild or moderate and completely resolved and no differences were detected between the subgroup of patients. Clinically significant improvements were seen in the UPDRS motor score and in the UPDRS total score in ≥40% of patients, according to the criteria developed by Shulman et al. Conclusion: The SYNAPSES study confirms the good safety profile of safinamide even in special groups of patients. Motor complications and motor scores improved with clinically significant results in the UPDRS scale maintained in the long-term.
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- 2021
24. Management of Parkinson's disease and other movement disorders in woman of childbearing age: Part 1
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García-Ramos, R, Santos-García, D, Alonso-Cánovas, A, Álvarez-Sauco, M, Ares, B, Ávila, A, Caballol, N, Carrillo, F, Escamilla Sevilla, F, Freire, E, Gómez Esteban, J C, Legarda, I, López Manzanares, L, López Valdés, E, Martínez-Torres, I, Mata, M, Pareés, I, Pascual-Sedano, B, Mir, P, and Martínez Castrillo, J C
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Adult ,Consensus ,Adolescent ,Embarazo ,Lactancia ,Parkinson's disease ,Breastfeeding ,Parkinson Disease ,Levodopa ,Young Adult ,Neurology ,Enfermedad de Parkinson ,Pregnancy ,Reproductive health ,Salud reproductiva ,Breastfeeding, Embarazo, Enfermedad de Parkinson, Lactancia, Levodopa, Parkinson's disease, Pregnancy, Reproductive health, Salud reproductiva ,Humans ,Female - Abstract
The main challenge of Parkinson's disease in women of childbearing age is managing symptoms and drugs during pregnancy and breastfeeding. The increase in the age at which women are having children makes it likely that these pregnancies will become more common in future. This study aims to define the clinical characteristics of women of childbearing age with Parkinson's disease and the factors affecting their lives, and to establish a series of guidelines for managing pregnancy in these patients. This consensus document was developed through an exhaustive literature search and a discussion of the available evidence by a group of movement disorder experts from the Spanish Society of Neurology. Parkinson's disease affects all aspects of sexual and reproductive health in women of childbearing age. Pregnancy should be well planned to minimise teratogenic risk. A multidisciplinary approach should be adopted in the management of these patients in order to take all relevant considerations into account.
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- 2020
25. Manejo de la enfermedad de Parkinson y otros trastornos del movimiento en mujeres en edad fértil: parte 2
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García-Ramos R, Santos-García D, Alonso-Cánovas A, Álvarez-Sauco M, Ares B, Ávila A, Caballol N, Carrillo F, Escamilla Sevilla F, Freire E, Gómez Esteban JC, Legarda I, López Manzanares L, López Valdés E, Martínez-Torres I, Mata M, Pareés I, Pascual-Sedano B, Martínez Castrillo JC, and Mir P
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Adult ,Movement Disorders ,Adolescent ,Chorea, Corea, Distonia, Dystonia, Embarazo, Pregnancy, Restless legs syndrome, Síndrome de Tourette, Síndrome de piernas inquietas, Tourette syndrome ,Embarazo ,Tourette syndrome ,Distonia ,Parkinson Disease ,Corea ,Dystonia ,Young Adult ,Pregnancy ,Chorea ,Restless Legs Syndrome ,Síndrome de piernas inquietas ,Humans ,Female ,Síndrome de Tourette ,Tourette Syndrome - Abstract
Many diseases associated with hyperkinetic movement disorders manifest in women of childbearing age. It is important to understand the risks of these diseases during pregnancy, and the potential risks of treatment for the fetus. This study aims to define the clinical characteristics and the factors affecting the lives of women of childbearing age with dystonia, chorea, Tourette syndrome, tremor, and restless legs syndrome, and to establish guidelines for management of pregnancy and breastfeeding in these patients. This consensus document was developed through an exhaustive literature search and a discussion of the content by a group of movement disorder experts from the Spanish Society of Neurology. We must evaluate the risks and benefits of treatment in all women with hyperkinetic movement disorders, whether pre-existing or with onset during pregnancy, and aim to reduce effective doses as much as possible or to administer drugs only when necessary. In hereditary diseases, families should be offered genetic counselling. It is important to recognise movement disorders triggered during pregnancy, such as certain types of chorea and restless legs syndrome.
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- 2020
26. Supplemental Material, Table.2.SM.Sleep.Problems.PD.COPPADIS - Sleep Problems Are Related to a Worse Quality of Life and a Greater Non-Motor Symptoms Burden in Parkinson’s Disease
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Santos-García, Diego, Castro, E. Suárez, de Deus Fonticoba, T., Panceiras, M. J. Feal, Enriquez, J. G. Muñoz, González, J. M. Paz, Bartolomé, C. Cores, Planellas, L. L., Caldentey, J. García, Caballol, N., Legarda, I., López, I. Cabo, Manzanares, L. López, Rivera, M. A. Ávila, Catalán, M. J., Nogueira, V., Borrué, C., Sauco, M. Álvarez, Vela, L., Cubo, E., Castrillo, J. C. Martínez, Alonso, P. Sánchez, Losada, M. G. Alonso, Ariztegui, N. López, Gastón, M. I., Kulisevsky, J., Pagonabarraga, J., Seijo, M., Martínez, J. Ruíz, Valero, C., Kurtis, M., Ardura, J. González, Prieto, C., Mir, P., and Martinez-Martin, P.
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FOS: Psychology ,FOS: Clinical medicine ,170199 Psychology not elsewhere classified ,110319 Psychiatry (incl. Psychotherapy) ,110308 Geriatrics and Gerontology ,110904 Neurology and Neuromuscular Diseases ,Neuroscience - Abstract
Supplemental Material, Table.2.SM.Sleep.Problems.PD.COPPADIS for Sleep Problems Are Related to a Worse Quality of Life and a Greater Non-Motor Symptoms Burden in Parkinson’s Disease by Diego Santos-García, E. Suárez Castro, T. de Deus Fonticoba, M. J. Feal Panceiras, J. G. Muñoz Enriquez, J. M. Paz González, C. Cores Bartolomé, L. L. Planellas, J. García Caldentey, N. Caballol, I. Legarda, I. Cabo López, L. López Manzanares, M. A. Ávila Rivera, M. J. Catalán, V. Nogueira, C. Borrué, M. Álvarez Sauco, L. Vela, E. Cubo, J. C. Martínez Castrillo, P. Sánchez Alonso, M. G. Alonso Losada, N. López Ariztegui, M. I. Gastón, J. Kulisevsky, J. Pagonabarraga, M. Seijo, J. Ruíz Martínez, C. Valero, M. Kurtis, J. González Ardura, C. Prieto, P. Mir, P. Martinez-Martin and on behalf of the COPPADIS Study Group in Journal of Geriatric Psychiatry and Neurology
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- 2020
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27. Sleep Problems Are Related to a Worse Quality of Life and a Greater Non-Motor Symptoms Burden in Parkinson's Disease
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Santos-Garcia, D, Castro, E, Fonticoba, T, Panceiras, M, Enriquez, J, Gonzalez, J, Bartolome, C, Planellas, L, Caldentey, J, Caballol, N, Legarda, I, Lopez, I, Manzanares, L, Rivera, M, Catalan, M, Nogueira, V, Borrue, C, Sauco, M, Vela, L, Cubo, E, Castrillo, J, Alonso, P, Losada, M, Ariztegui, N, Gaston, M, Kulisevsky, J, Pagonabarraga, J, Seijo, M, Martinez, J, Valero, C, Kurtis, M, Ardura, J, Prieto, C, Mir, P, Martinez-Martin, P, and COPPADIS Study Grp
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Parkinson's disease sleep scale ,quality of life ,Parkinson's disease ,sleep ,non-motor symptoms - Abstract
Introduction: The aim of the present study was to examine the frequency of self-reported sleep problems and their associated factors in a large cohort of PD patients. Methods: PD patients and controls, recruited from 35 centers of Spain from the COPPADIS cohort were included in this cross-sectional study. Sleep problems were assessed by the Spanish version of the Parkinson's disease Sleep Scale version 1 (PDSS-1). An overall score below 82 or a score below 5 on at least 1 item was defined as sleep problems. Results: The frequency of sleep problems was nearly double in PD patients compared to controls: 65.8% (448/681) vs 33.5% (65/206) (p < 0.0001). Mean total PDSS score was lower in PD patients than controls: 114.9 +/- 28.8 vs 132.8 +/- 16.3 (p < 0.0001). Quality of life (QoL) was worse in PD patients with sleep problems compared to those without: PDQ-39SI, 19.3 +/- 14 vs 13 +/- 11.6 (p < 0.0001); EUROHIS-QoL8, 3.7 +/- 0.5 vs 3.9 +/- 0.5 (p < 0.0001). Non-motor symptoms burden (NMSS; OR = 1.029; 95%CI 1.015-1.043; p < 0.0001) and impulse control behaviors (QUIP-RS; OR = 1.054; 95%CI 1.009-1.101; p = 0.018) were associated with sleep problems after adjustment for age, gender, disease duration, daily equivalent levodopa dose, H&Y, UPDRS-III, UPDRS-IV, PD-CRS, BDI-II, NPI, VAS-Pain, VAFS, FOGQ, and total number of non-antiparkinsonian treatments. Conclusion: Sleep problems were frequent in PD patients and were related to both a worse QoL and a greater non-motor symptoms burden in PD. These findings call for increased awareness of sleep problems in PD patients.
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- 2020
28. Clinical utility of a personalized and long-term monitoring device for Parkinson's disease in a real clinical practice setting: An expert opinion survey on STAT-ON™
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Santos García, D., primary, López Ariztegui, N., additional, Cubo, E., additional, Vinagre Aragón, A., additional, García-Ramos, R., additional, Borrué, C., additional, Fernández-Pajarín, G., additional, Caballol, N., additional, Cabo, I., additional, Barrios-López, J.M., additional, Hernández Vara, J., additional, Ávila Rivera, M.A., additional, Gasca-Salas, C., additional, Escalante, S., additional, Manrique de Lara, P., additional, Pérez Noguera, R., additional, Álvarez Sauco, M., additional, Sierra, M., additional, Monje, M.H.G., additional, Sánchez Ferro, A., additional, Novo Ponte, S., additional, Alonso-Frech, F., additional, Macías-García, D., additional, Legarda, I., additional, Rojo, A., additional, Álvarez Fernández, I., additional, Buongiorno, M.T., additional, Pastor, P., additional, and García Ruíz, P., additional
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- 2020
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29. Sleep Problems Are Related to a Worse Quality of Life and a Greater Non-Motor Symptoms Burden in Parkinson’s Disease
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Santos-García, Diego, primary, Castro, E. Suárez, additional, de Deus Fonticoba, T., additional, Panceiras, M. J. Feal, additional, Enriquez, J. G. Muñoz, additional, González, J. M. Paz, additional, Bartolomé, C. Cores, additional, Planellas, L. L., additional, Caldentey, J. García, additional, Caballol, N., additional, Legarda, I., additional, López, I. Cabo, additional, Manzanares, L. López, additional, Rivera, M. A. Ávila, additional, Catalán, M. J., additional, Nogueira, V., additional, Borrué, C., additional, Sauco, M. Álvarez, additional, Vela, L., additional, Cubo, E., additional, Castrillo, J. C. Martínez, additional, Alonso, P. Sánchez, additional, Losada, M. G. Alonso, additional, Ariztegui, N. López, additional, Gastón, M. I., additional, Kulisevsky, J., additional, Pagonabarraga, J., additional, Seijo, M., additional, Martínez, J. Ruíz, additional, Valero, C., additional, Kurtis, M., additional, Ardura, J. González, additional, Prieto, C., additional, Mir, P., additional, and Martinez-Martin, P., additional
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- 2020
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30. Sleep Problems Are Related to a Worse Quality of Life and a Greater Non-Motor Symptoms Burden in Parkinson's Disease.
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Santos-García, Diego, Castro, E. Suárez, de Deus Fonticoba, T., Panceiras, M. J. Feal, Enriquez, J. G. Muñoz, González, J. M. Paz, Bartolomé, C. Cores, Planellas, L. L., Caldentey, J. García, Caballol, N., Legarda, I., López, I. Cabo, Manzanares, L. López, Rivera, M. A. Ávila, Catalán, M. J., Nogueira, V., Borrué, C., Sauco, M. Álvarez, Vela, L., and Cubo, E.
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PARKINSON'S disease ,APATHY ,NON-communicable diseases ,SLEEP ,QUALITY of life ,GENDER - Abstract
Introduction: The aim of the present study was to examine the frequency of self-reported sleep problems and their associated factors in a large cohort of PD patients. Methods: PD patients and controls, recruited from 35 centers of Spain from the COPPADIS cohort were included in this cross-sectional study. Sleep problems were assessed by the Spanish version of the Parkinson's disease Sleep Scale version 1 (PDSS-1). An overall score below 82 or a score below 5 on at least 1 item was defined as sleep problems. Results: The frequency of sleep problems was nearly double in PD patients compared to controls: 65.8% (448/681) vs 33.5% (65/206) (p < 0.0001). Mean total PDSS score was lower in PD patients than controls: 114.9 ± 28.8 vs 132.8 ± 16.3 (p < 0.0001). Quality of life (QoL) was worse in PD patients with sleep problems compared to those without: PDQ-39SI, 19.3 ± 14 vs 13 ± 11.6 (p < 0.0001); EUROHIS-QoL8, 3.7 ± 0.5 vs 3.9 ± 0.5 (p < 0.0001). Non-motor symptoms burden (NMSS; OR = 1.029; 95%CI 1.015–1.043; p < 0.0001) and impulse control behaviors (QUIP-RS; OR = 1.054; 95%CI 1.009–1.101; p = 0.018) were associated with sleep problems after adjustment for age, gender, disease duration, daily equivalent levodopa dose, H&Y, UPDRS-III, UPDRS-IV, PD-CRS, BDI-II, NPI, VAS-Pain, VAFS, FOGQ, and total number of non-antiparkinsonian treatments. Conclusion: Sleep problems were frequent in PD patients and were related to both a worse QoL and a greater non-motor symptoms burden in PD. These findings call for increased awareness of sleep problems in PD patients. [ABSTRACT FROM AUTHOR]
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- 2021
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31. High ultrasensitive serum C-reactive protein may be related to freezing of gait in Parkinson's disease patients
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Santos-Garcia, D, Fonticoba, TD, Castro, ES, Diaz, AA, Gonzalez, JMP, Panceiras, MJF, Sancho, CG, Jesus, S, Mir, P, Aguilar, M, Pastor, P, Vara, JH, de Fabregues-Boixar, O, Puente, V, Cuevas, AC, Gonzalez-Aramburu, I, Infante, J, Padilla, FC, Pueyo, M, Escalante, S, Bernardo, N, Solano, B, Foraster, AC, Martinez-Martin, P, Astrid, DA, Almeria, M, Losada, MGA, Canovas, AA, Frech, FA, Sauco, MA, Arnaiz, S, Arribas, S, Vidondo, AA, Avila, MA, Bejr-Kasem, H, Estrada, MB, Boti, M, Borrue, C, Gonzalez, CC, Lopez, IC, Caballol, N, Lorenzo, AC, Carrillo, F, Casas, E, Catalan, MJ, Clavero, P, Fernandez, AC, Cubo, E, Diez-Fairen, M, Erro, E, Peyret, EE, Guillan, NF, Gamez, P, Gallego, M, Caldentey, JG, Campos, CG, Moreno, JMG, Gaston, I, Garre, MPG, Aloy, JG, Ardura, JG, Garcia, BG, Palmas, MJG, Toledo, GRG, Diaz, AG, Sola, MG, Guardia, G, Horta-Barba, A, Kulisevsky, J, Kurtis, M, Labandeira, C, Labrador, MA, Lacruz, F, Castro, ML, Legarda, I, Ariztegui, NL, Diaz, LML, Manzanares, LL, Seoane, BL, Macias, Y, Mata, M, Andres, GM, Marti, MJ, Castrillo, JCM, McAfee, D, Meitin, MT, Gonzalez, MM, del Barrio, CM, Santiago, JM, Casado, MIM, Dieguez, AM, Nogueira, V, Amado, AN, Ponte, SN, Ordas, C, Pagonabarraga, J, Parees, I, Pascual-Sedano, B, Fuertes, AP, Noguera, RP, Planellas, L, Prats, MA, Jurczynska, CP, Rafales, NR, Mendez, LR, Perez, ABR, Roldan, F, De Arcos, MR, Martinez, JR, Alonso, PS, Sanchez-Carpintero, M, Diez, GS, Rodriguez, AS, Santacruz, P, Rodriguez, JCS, Seijo, M, Serarols, A, Pena, MS, Tartari, JP, Valero, C, Vargas, L, Gomez, RV, Vela, L, Villanueva, C, Vives, B, and Villar, MD
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Inflammation ,genetic structures ,Parkinson's disease ,Freezing ,C-Reactive protein ,Gait - Abstract
C-reactive protein (CRP) is a biomarker of systemic inflammation that has been linked to accelerated decline in walking speed in older adults. The aim of the present study was to compare the CRP levels of PD patients with vs patients without freezing of gait (FOG). Patients and controls participating in the COPPADIS-2015 study that performed blood extraction for determining molecular serum biomarkers were included. Patients with FOG were identified as those with a score of 1 or greater on item-3 of the Freezing of Gait Questionnaire (FOG-Q). Immunoassay was used for determining ultrasensitive CRP (US-CRP) level (mg/dL). In the PD group (n = 225; 61.8 +/- 9.5 years old, 61.8% males), 32% of the patients presented FOG but none in the control group (n = 65; 60.3 +/- 6.1 years old, 56.9% males) (p < 0.0001). Differences in US-CRP level were significant in patients with FOG vs patients without FOG and vs controls (0.31 +/- 0.52 vs 0.16 +/- 0.21 vs 0.21 +/- 0.22; p = 0.04). Significant differences were also observed between patients with vs without FOG (p = 0.001) but not between patients and controls (p = 0.163). US-CRP level was related to FOG (OR = 4.369; 95% CI 1.105-17.275; p = 0.036) along with H&Y (OR = 2.974; 95% CI 1.113-7.943; p = 0.030) and non-motor symptoms burden (NMSS total score; OR = 1.017; 95% CI 1.005-1.029; p = 0.006) after adjusting for age, gender, disease duration, equivalent daily levodopa dose, number of non-antiparkinsonian drugs per day, motor fluctuations, cognition, motor phenotype, and chronic use of anti-inflammatory drugs. The present study suggests that serum US-CRP level is related to FOG in PD patients. Inflammation could be linked to FOG development.
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- 2019
32. COPPADIS-2015 (COhort of Patients with PArkinson's DIsease in Spain, 2015): an ongoing global Parkinson's disease project about disease progression with more than 1000 subjects included. Results from the baseline evaluation
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Garcia, DS, Jesus, S, Aguilar, M, Planellas, LL, Caldentey, JG, Caballol, N, Legarda, I, Vara, JH, Cabo, I, Manzanares, LL, Aramburu, IG, Rivera, MAA, Catalan, MJ, Diaz, LL, Puente, V, Moreno, JMG, Borrue, C, Vila, BS, Sauco, MA, Vela, L, Escalante, S, Cubo, E, Padilla, FC, Castrillo, JCM, Alonso, PS, Losada, MGA, Ariztegui, NL, Gaston, I, Kulisevsky, J, Gonzalez, MM, Seijo, M, Martinez, JR, Valero, C, Kurtis, M, de Fabregues-Boixar, O, Ardura, JG, Jurczynska, CP, Martinez-Martin, P, Mir, P, Astrid, DA, Almeria, M, Canovas, AA, Frech, FA, Diaz, AA, Arnaiz, S, Arribas, S, Vidondo, AA, Lambrich, NB, Bejr-Kasem, H, Estrada, MB, Boti, M, Gonzalez, CC, Lorenzo, AC, Carrillo, F, Casas, E, Clavero, P, Fernandez, AC, Foraster, AC, Cuevas, AC, Fonticoba, TD, Diez-Fairen, M, Erro, E, Peyret, EE, Guillan, NF, Gamez, P, Gallego, M, Campos, CG, Garre, MPG, Aloy, JG, Garcia, BG, Palmas, MJG, Toledo, GRG, Diaz, AG, Sola, MG, Guardia, G, Horta-Barba, A, Infante, J, Labandeira, C, Labrador, MA, Lacruz, F, Castro, ML, Seoane, BL, Macias, Y, Mata, M, Andres, GM, Marti, MJ, McAfee, D, Meitin, MT, del Barrio, CM, Santiago, JM, Casado, MIM, Dieguez, AM, Nogueira, V, Amado, AN, Ponte, SN, Ordas, C, Pagonabarraga, J, Parees, I, Pascual-Sedano, B, Pastor, P, Fuertes, AP, Noguera, RP, Prats, MA, Morlans, MP, Rafales, NR, Mendez, LR, Perez, ABR, Roldan, F, De Arcos, MR, Sanchez-Carpintero, M, Diez, GS, Rodriguez, AS, Santacruz, P, Rodriguez, JCS, Serarols, A, Pena, MS, Castro, ES, Tartari, JP, Vargas, L, Gomez, RV, Villanueva, C, Vives, B, and Villar, MD
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motor fluctuations ,quality of life ,mood ,Parkinson's disease ,gait ,non-motor symptoms - Abstract
Background and purpose In Parkinson's disease (PD), the course of the disorder is highly variable between patients. Well-designed, prospective studies for identifying PD progression biomarkers are necessary. Our aim was to show the results of baseline evaluations of an ongoing global PD project, COPPADIS-2015 (Cohort of Patients with PArkinson's DIsease in Spain, 2015). Methods This was an observational, descriptive, nationwide study (Spain). The recruitment period ended in October 2017. Baseline evaluation included more than 15 validated scales and complementary studies in a subgroup of participants. Results In total, 1174 subjects from 35 centres were considered valid for baseline analysis: 694 patients (62.6 +/- 8.9 years old, 60.3% males), 273 caregivers (58.5 +/- 11.9 years old, 31.8% males) and 207 controls (61 +/- 8.3 years old, 49.5% males). The mean disease duration was 5.5 +/- 4.4 years. Hoehn and Yahr stage was 1 or 2 in 90.7% of the patients whilst 33.9% and 18.1% of them presented motor fluctuations and dyskinesias, respectively. The mean Non-Motor Symptoms Scale total score was 45.4 +/- 38.1, and 30.4% of the patients presented cognitive impairment, 16.1% major depression, 12.7% impulse control disorder, 7.2% compulsive behaviour, 57.2% pain and 13.2% falls. Compared to the control group, PD patients presented a significantly higher burden of non-motor symptoms and a worse quality of life. More than 300 subjects conducted complementary studies (serum biomarkers, genetic and neuroimaging). Conclusions Parkinson's disease is a complex disorder and different non-motor symptoms are frequently present and are more prevalent than in controls. In real clinical practice it is important to ask for them.
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- 2019
33. Non-motor symptoms burden, mood, and gait problems are the most significant factors contributing to a poor quality of life in non-demented Parkinson's disease patients: Results from the COPPADIS Study Cohort
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Garcia, D, Fonticoba, T, Castro, E, Borrue, C, Mata, M, Vila, B, Foraster, A, Sauco, M, Perez, A, Vela, L, Macias, Y, Escalante, S, Esteve, P, Villarroya, S, Cubo, E, Casas, E, Arnaiz, S, Padilla, F, Morlans, M, Mir, P, Martinez-Martin, P, Adarmes, A, Almeria, M, Losada, G, Canovas, A, Alonso-Frech, F, Arribas, S, Vidondo, A, Aguilar, M, Avila, M, Lambrich, N, Bejr-Kasem, H, Estrada, M, Boti, M, Gonzalez, C, Lopez, I, Caballol, N, Lorenzo, A, Carrillo, F, Catalan, M, Clavero, P, Fernandez, A, Cuevas, A, de Fabregues-Boixar, O, Diez-Fairen, M, Erro, E, Peyret, E, Guinan, N, Gamez, P, Gallego, M, Caldentey, J, Campos, C, Moreno, J, Gaston, I, Garre, M, Aloy, J, Gonzalez-Aramburu, I, Ardura, J, Garcia, B, Palmas, M, Toledo, G, Diaz, A, Sola, M, Guardia, G, Hernandez-Vara, J, Barba, A, Infante, J, Jesus, S, Kulisevsky, J, Kurtis, M, Labandeira, C, Labrador, M, Lacruz, F, Castro, M, Legarda, I, Ariztegui, N, Diaz, L, Manzanares, L, Seoane, B, Andres, G, Marti, M, Martinez-Castrillo, J, McAfee, D, Meitin, M, Gonzalez, M, del Barrio, C, Santiago, J, Casado, M, Dieguez, A, Nogueira, V, Amado, A, Ponte, S, Ordas, C, Pagonabarraga, J, Parees, I, Pascual-Sedano, B, Pastor, P, Fuertes, A, Noguera, R, Planellas, L, Fuster, J, Prats, M, Jurczynska, C, Puente, V, Rafales, N, Mendez, L, Roldan, F, De Arcos, M, Martinez, J, Alonso, P, Sanchez-Carpintero, M, Diez, G, Rodriguez, A, Santacruz, P, Rodriguez, J, Seijo, M, Serarols, A, Pena, M, Tartari, J, Vargas, L, Gomez, R, Villanueva, C, Vives, B, Villar, M, and Coppadis Study Grp
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Quality of life ,Parkinson's disease ,Mood ,Non-motor symptoms ,Gait ,humanities ,Motor fluctuations - Abstract
Objective: To identify factors related to a poor health-related and global quality of life (QoL) in a cohort of nondemented Parkinson's disease (PD) patients and compare to a control group. Methods: The data correspond to the baseline evaluation of the COPPADIS-2015 Study, an observational, 5-year follow-up, multicenter, evaluation study. Three instruments were used to assess QoL: (1) the 39-item Parkinson's disease Questionnaire (PDQ-39), (2) a subjective rating of global QoL (PQ-10), and (3) the EUROHIS-QOL 8-item index (EUROHIS-QOL8). Multiple linear regression methods were used to evaluate the direct impact of different variables on these QoL measures. Results: QoL was worse in PD patients (n = 692; 62.6 +/- 8.9 years old, 60.3% males) than controls (n = 206; 61 +/- 8.3 years old, 49.5% males): PDQ-39, 17.1 +/- 13.5 vs 4.4 +/- 6.3 (p < 0.0001); PQ-10, 7.3 +/- 1.6 vs 8.1 +/- 1.2 (p < 0.0001); EUROHIS-Q0L8, 3.8 +/- 0.6 vs 4.2 +/- 0.5 (p < 0.0001). A high correlation was observed between PDQ-39 and Non-Motor Symptoms Scale (NMSS) (r = 0.72; p < 0.0001), and PDQ-39 and Beck Depression Inventory-II (BDI-II) (r = 0.65; p < 0.0001). For health-related QoL (PDQ-39), non-motor symptoms burden (NMSS), mood (BDI-II), and gait problems (Freezing Of Gait Questionnaire [FOGQ]) provided the highest contribution to the model (beta = 0.32, 0.28, and 0.27, respectively; p < 0.0001); whereas mood and gait pro- blems contributed the most to global QoL (PQ-10, beta = -0.46 and -0.21, respectively; EUROHIS-QOL8, beta = - 0.44 and - 0.23, respectively). Conclusions: QoL is worse in PD patients than in controls. Mood, non-motor symptoms burden, and gait problems seem to be the most relevant factors affecting health-related and global perceived QoL in non-demented PD patients.
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- 2019
34. Non-motor symptoms burden, mood, and gait problems are the most significant factors contributing to a poor quality of life in non-demented Parkinson's disease patients: Results from the COPPADIS Study Cohort
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Santos García, D., primary, de Deus Fonticoba, T., additional, Suárez Castro, E., additional, Borrué, C., additional, Mata, M., additional, Solano Vila, B., additional, Cots Foraster, A., additional, Álvarez Sauco, M., additional, Rodríguez Pérez, A.B., additional, Vela, L., additional, Macías, Y., additional, Escalante, S., additional, Esteve, P., additional, Reverté Villarroya, S., additional, Cubo, E., additional, Casas, E., additional, Arnaiz, S., additional, Carrillo Padilla, F., additional, Pueyo Morlans, M., additional, Mir, P., additional, Martinez-Martin, P., additional, Adarmes, A.D., additional, Almeria, M., additional, Alonso Losada, G., additional, Alonso Cánovas, A., additional, Alonso-Frech, F., additional, Arribas, S., additional, Ascunde Vidondo, A., additional, Aquilar, M., additional, Ávila, M.A., additional, Bernardo Lambrich, N., additional, Bejr-Kasem, H., additional, Blázquez Estrada, M., additional, Botí, M., additional, Cabello González, C., additional, Cabo López, I., additional, Caballol, N., additional, Cámara Lorenzo, A., additional, Carrillo, F., additional, Catalán, M.J., additional, Clavero, P., additional, Cortina Fernández, A., additional, Crespo Cuevas, A., additional, de Fábregues-Boixar, O., additional, Díez-Fairen, M., additional, Erro, E., additional, Estelrich Peyret, E., additional, Fernández Guillán, N., additional, Gámez, P., additional, Gallego, M., additional, García Caldentey, J., additional, García Campos, C., additional, García Moreno, J.M., additional, Gastón, I., additional, Gómez Garre, M.P., additional, González Aloy, J., additional, González-Aramburu, I., additional, González Ardura, J., additional, González García, B., additional, González Palmás, M.J., additional, González Toledo, G.R., additional, Golpe Díaz, A., additional, Grau Solá, M., additional, Guardia, G., additional, Hernández-Vara, J., additional, Horta Barba, A., additional, Infante, J., additional, Jesús, S., additional, Kulisevsky, J., additional, Kurtis, M., additional, Labandeira, C., additional, Labrador, M.A., additional, Lacruz, F., additional, Lage Castro, M., additional, Legarda, I., additional, López Ariztegui, N., additional, López Díaz, L.M., additional, López Manzanares, L., additional, López Seoane, B., additional, Martí Andres, G., additional, Martí, M.J., additional, Martínez-Castrillo, J.C., additional, McAfee, D., additional, Meitín, M.T., additional, Menéndez González, M., additional, Méndez del Barrio, C., additional, Miranda Santiago, J., additional, Morales Casado, M.I., additional, Moreno Diéguez, A., additional, Nogueira, V., additional, Novo Amado, A., additional, Novo Ponte, S., additional, Ordás, C., additional, Pagonabarraga, J., additional, Pareés, I., additional, Pascual-Sedano, B., additional, Pastor, P., additional, Pérez Fuertes, A., additional, Pérez Noguera, R., additional, Planellas, Ll, additional, Pol Fuster, J., additional, Prats, M.A., additional, Prieto Jurczynska, C., additional, Puente, V., additional, Redondo Rafales, N., additional, Rodríguez Méndez, L., additional, Roldán, F., additional, Ruíz De Arcos, M., additional, Ruíz Martínez, J., additional, Sánchez Alonso, P., additional, Sánchez-Carpintero, M., additional, Sánchez Díez, G., additional, Sánchez Rodríguez, A., additional, Santacruz, P., additional, Segundo Rodríguez, J.C., additional, Seijo, M., additional, Serarols, A., additional, Sierra Peña, M., additional, Tartari, J.P., additional, Vargas, L., additional, Vázquez Gómez, R., additional, Villanueva, C., additional, Vives, B., additional, and Villar, M.D., additional
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- 2019
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35. COPPADIS‐2015 (COhort of Patients with PArkinson's DIsease in Spain, 2015): an ongoing global Parkinson's disease project about disease progression with more than 1000 subjects included. Results from the baseline evaluation.
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Santos García, D., Jesús, S., Aguilar, M., Planellas, L. L., García Caldentey, J., Caballol, N., Legarda, I., Hernández Vara, J., Cabo, I., López Manzanares, L., González Aramburu, I., Ávila Rivera, M. A., Catalán, M. J., López Díaz, L., Puente, V., García Moreno, J. M., Borrué, C., Solano Vila, B., Álvarez Sauco, M., and Vela, L.
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PARKINSON'S disease ,DISEASE progression ,IMPULSE control disorders ,MENTAL depression ,DISEASE duration - Abstract
Background and purpose: In Parkinson's disease (PD), the course of the disorder is highly variable between patients. Well‐designed, prospective studies for identifying PD progression biomarkers are necessary. Our aim was to show the results of baseline evaluations of an ongoing global PD project, COPPADIS‐2015 (Cohort of Patients with PArkinson's DIsease in Spain, 2015). Methods: This was an observational, descriptive, nationwide study (Spain). The recruitment period ended in October 2017. Baseline evaluation included more than 15 validated scales and complementary studies in a subgroup of participants. Results: In total, 1174 subjects from 35 centres were considered valid for baseline analysis: 694 patients (62.6 ± 8.9 years old, 60.3% males), 273 caregivers (58.5 ± 11.9 years old, 31.8% males) and 207 controls (61 ± 8.3 years old, 49.5% males). The mean disease duration was 5.5 ± 4.4 years. Hoehn and Yahr stage was 1 or 2 in 90.7% of the patients whilst 33.9% and 18.1% of them presented motor fluctuations and dyskinesias, respectively. The mean Non‐Motor Symptoms Scale total score was 45.4 ± 38.1, and 30.4% of the patients presented cognitive impairment, 16.1% major depression, 12.7% impulse control disorder, 7.2% compulsive behaviour, 57.2% pain and 13.2% falls. Compared to the control group, PD patients presented a significantly higher burden of non‐motor symptoms and a worse quality of life. More than 300 subjects conducted complementary studies (serum biomarkers, genetic and neuroimaging). Conclusions: Parkinson's disease is a complex disorder and different non‐motor symptoms are frequently present and are more prevalent than in controls. In real clinical practice it is important to ask for them. [ABSTRACT FROM AUTHOR]
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- 2019
- Full Text
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36. Suicidal ideation in a European Huntington's disease population
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Hubers, Aa, van Duijn, E, Roos, Ra, Craufurd, D, Rickards, H, Bernhard Landwehrmeyer, G, van der Mast RC, Giltay, Ej, Bachoud Lévi AC, Bentivoglio, Ar, Biunno, I, Bonelli, Rm, Burgunder, Jm, Dunnett, Sb, Ferreira, Jj, Handley, Oj, Heiberg, A, Llmann, Ti, Landwehrmeyer, Gb, Levey, J, Ramos Arroyo MA, Nielsen, Je, Prokoivisto, S, Päivärinta, M, Rojo Sebastián, A, Tabrizi, Sj, Vandenberghe, W, Verellen Dumoulin, C, Zaremba, J, Uhrova, T, Wahlström, J, Barth, K, Correia Guedes, L, Finisterra, Am, Garde, Mb, Bos, R, Betz, S, Callaghan, J, Fullam, R, Ecker, D, Nielsen, Mg, Hvalstedt, C, Held, C, Koppers, K, Laurà, M, Horta, Sm, Descals, Am, Mestre, T, Minster, S, Monza, D, Mütze, L, Oehmen, M, Townhill, J, Orth, M, Padieu, H, Paterski, L, Peppa, N, Pro Koivisto, S, Roedig, V, Rialland, A, Røren, N, Šašinková, P, Seliverstov, Y, Cubillo, Pt, Walsem, Mr, Wright, A, da Silva WV, Witjes Ané MN, Yudina, E, Zielonka, D, Zielonka, E, Zinzi, P, Herranhof, B, Holl, A, Kapfhammer, Hp, Koppitz, M, Magnet, M, Otti, D, Painold, A, Reisinger, K, Scheibl, M, Hecht, K, Lilek, S, Müller, N, Schöggl, H, Ullah, J, Brugger, F, Hepperger, C, Hotter, A, Seppi, K, Wenning, G, Buratti, L, Hametner, Em, Holas, C, Hussl, A, Poewe, W, Braunwarth, Em, Sprenger, F, Müller, C, Sinadinosa, D, Walleczek, Am, Ladurner, G, Staffen, W, Flamez, A, Morez, V, de Raedt, S, Boogaerts, A, van Reijen, D, Klempíř, J, Majerová, V, Roth, J, Hartikainen, P, Hiivola, H, Martikainen, K, Tuuha, K, Ignatius, J, Kärppä, M, Åman, J, Mustonen, A, Kajula, O, Santala, M, Allain, P, Guérid, Ma, Gohier, B, Olivier, A, Prundean, A, Scherer Gagou, C, Verny, C, Bost, M, Babiloni, B, Debruxelles, S, Duché, C, Goizet, C, Lafoucrière, D, Jameau, L, Spampinato, U, De Bruycker, C, Cabaret, M, Carette, As, Defebvre, L, Decorte, E, Delval, A, Delliaux, M, Destee, A, Dujardin, K, Peter, M, Plomhouse, L, Sablonnière, B, Simonin, C, Lemaire, Mh, Manouvrier, S, Thibault Tanchou, S, Vuillaume, I, Krystkowiak, P, Duru, C, Roussel, M, Wannepain, S, Berrissoul, H, Bellonet, M, Courtin, F, Mantaux, B, Fasquel, V, Godefroy, O, Azulay, Jp, Fluchère, F, Delfini, M, Eusebio, A, Mundler, L, Longato, N, Rudolf, G, Steinmetz, G, Tranchant, C, Wagner, C, Zimmermann, M, Marcel, C, Calvas, F, Pariente, J, Démonet, Jf, Cheriet, S, Kosinski, Cm, Milkereit, E, Probst, D, Reetz, K, Sass, C, Schiefer, J, Schlangen, C, Werner, Cj, Gelderblom, H, Priller, J, Prüß, H, Spruth, Ej, Andrich, J, Ellrichmann, G, Hoffmann, R, Kaminski, B, Saft, C, Stamm, C, Lange, H, Bosredon, C, Maass, A, Schmidt, S, Storch, A, Wolz, M, Kohl, Z, Winkler, J, Capetian, P, Lambeck, J, Zucker, B, Boelmans, K, Ganos, C, Goerendt, I, Hidding, U, Lewerenz, J, Münchau, A, Schmalfeld, J, Stubbe, L, Zittel, S, Diercks, G, Dressler, D, Gorzolla, H, Schrader, C, Tacik, P, Heinicke, W, Longinus, B, Bürk, K, Möller, Jc, Rissling, I, Mühlau, M, Peinemann, A, Städtler, M, Weindl, A, Winkelmann, J, Ziegler, C, Bohlen, S, Hölzner, E, Reilmann, R, Dose, M, Leythaeuser, G, Marquard, R, Raab, T, Schrenk, C, Schuierer, M, Buck, A, Connemann, J, Eschenbach, C, Landwehrmeyer, B, Lezius, F, Nepper, S, Niess, A, Schwenk, D, Süßmuth, S, Trautmann, S, Weydt, P, Cormio, C, Sciruicchio, V, Serpino, C, Tommaso, M, Capellari, S, Cortelli, P, Gallassi, R, Poda, R, Rizzo, G, Scaglione, C, Bertini, E, Ghelli, E, Ginestroni, A, Massaro, F, Mechi, C, Paganini, M, Piacentini, S, Pradella, S, Romoli, Am, Sorbi, S, Abbruzzese, G, di Poggio MB, Di Maria, E, Ferrandes, G, Mandich, P, Marchese, R, Albanese, A, Di Bella, D, Di Donato, S, Gellera, C, Genitrini, S, Mariotti, C, Nanetti, L, Paridi, D, Soliveri, P, Tomasello, C, De Michele, G, Di Maio, L, Salvatore, E, Rinaldi, C, Rossi, F, Massarelli, M, Roca, A, Ammendola, S, Russo, Cv, Squitieri, F, Elifani, F, Maglione, V, Di Pardo, A, Alberti, S, Griguoli, A, Amico, E, Martino, T, Petrollini, M, Catalli, C, Di Giacopo, R, Fasano, A, Frontali, M, Guidubaldi, A, Ialongo, T, Jacopini, G, Loria, G, Piano, C, Chiara, P, Quaranta, D, Romano, Silvia, Soleti, F, Spadaro, M, Romano, S, van Hout MS, van Vugt JP, Weert, A, Bolwijn, J, Dekker, M, Leenders, K, Kremer, Hp, Dumas, Em, van den Bogaard SJ, 't Hart EP, Økland, E, Hauge, E, Tyvoll, H, Frich, J, Aaserud, O, Wehus, R, Bjørgo, K, Fannemel, M, Gørvell, P, Lorentzen, E, Koivisto, Sp, Retterstøl, L, Overland, T, Stokke, B, Sando, B, Dziadkiewicz, A, Nowak, M, Robowski, P, Sitek, E, Slawek, J, Soltan, W, Szinwelski, M, Blaszcyk, M, Boczarska Jedynak, M, Ciach Wysocka, E, Gorzkowska, A, Jasinska Myga, B, Opala, G, Kłodowska Duda, G, Stompel, D, Banaszkiewicz, K, Boćwińska, D, Szczudlik, A, Rudzińska, M, Wójcik, M, Dec, M, Krawczyk, M, Jaremek, Kb, Szczygieł, E, Stenwak, A, Ielewska, Aw, Bryl, A, Ciesielska, A, Klimberg, A, Marcinkowski, J, Sempołowicz, J, Samara, H, Wiśniewski, B, Janik, P, Gogol, A, Kwiecinski, H, Jamrozik, Z, Kaminska, A, Antczak, J, Jachinska, K, Rakowicz, M, Richter, P, Rola, R, Ryglewicz, D, Sienkiewicz Jarosz, H, Stępniak, I, Witkowski, G, Zdzienicka, E, Sułek, A, Krysa, W, Zieora Jakutowicz, K, Júlio, F, Januário, C, Coelho, M, Mendes, T, Valadas, A, Timóteo, Â, Costa, C, Cavaco, S, Damásio, J, Loureiro, R, Magalhães, M, Andrade, C, Gago, M, Garrett, C, Guerra, Mr, Lima, J, Massano, J, Meireles, J, Herrera, Cd, Garcia, Pm, Barrero, F, Morales, B, Cubo, E, Mariscal, N, Sánchez, J, Alonso Frech, F, Perez, Mr, Fenollar, M, García, Rg, Quiroga, Pp, Rivera, Sv, Villanueva, C, Alegre, J, Bascuñana, M, Caldentey, Jg, Ventura, Mf, Ribas, Gg, Yébenes, Jg, López Sendón Moreno JL, García Ruíz PJ, Martínez Descals, A, Artiga, Mj, Sánchez, V, Guerrero, R, Bárcenas, Ah, Noguera Perea MF, Fortuna, L, Martirio, M, Torres, A, Reinante, G, Moreau, Lv, Barbera, Ma, Guia, Db, Hernanz, Lc, Catena, Jl, Sebastián, Ar, Ferrer, Pq, Carruesco, Gt, Bas, J, Busquets, N, Calopa, M, Elorza, Md, Díez AjaLópez, C, Terol, Sd, Robert, Mf, Ruíz, Bg, Casado, Ag, Martínez, Ih, Viladrich, Cm, Càrdenas, Rp, Roca, E, Llesoy, Jr, Idiago, Jm, Vergara, Mr, García, Ss, Riballo, Av, González, Sg, Guisasola, Lm, Salvador, C, San Martín ES, González, M, Gorospe, A, Legarda, I, Arques, Pn, Torres Rodríguez MJ, Vives, B, Gaston, I, Martinez Jaurrieta MD, Manuel, J, Moreno, G, Peña, Jc, Avarvarei, Ld, Bastida, Am, Recio, Mf, Vergé, Lr, Sánchez, Vs, Carrillo, F, Cáceres, Mt, Mir, P, Suarez, Mj, Bosca, M, Burguera, Ja, Garcia, Ac, Brugada, Fc, Martínez, Lm, Val, Jl, Loutfi, G, Olofsson, C, Stattin, El, Westman, L, Wikström, B, Lhagen, Se, Paucar, M, Svenningsson, P, Reza Soltani TW, Höglund, A, Sandström, B, Høsterey Ugander, U, Fredlund, G, Constantinescu, R, Neleborn Lingefjärd, L, Tedr off, J, Esmaeilzadeh, M, Winnberg, E, Pålhagen, S, Svennigsson, P, Riza Soltani TW, Sundblom, J, Johansson, A, Wiklund, L, Ekwall, C, Göller, Ml, Petersén, A, Reimer, J, Widner, H, Stebler, Y, Kaelin, A, Romero, I, Schüpbach, M, Weber, S, Miedzybrodzka, Z, Rae, D, Downie, L, Simpson, S, Summers, F, Ure, A, Jack, R, Matheson, K, Akhtar, S, Crooks, J, Curtis, A, Souza, J, Wright, J, Hayward, B, Sieradzan, K, Barker, Ra, O'Keefe, D, Di Pietro, A, Fisher, K, Hill, S, Mason, S, Swain, R, Valle, N, Guzman, Bisson, J, Busse, M, Butcher, C, Clenaghan, C, Dunnett, S, Handley, O, Hunt, S, Hughes, A, Johnstone, C, Jones, L, Jones, U, Khalil, H, Owen, M, Price, K, Rose, Le, Rosser, A, Porteous, M, Edwards, M, Ho, C, Mcgill, M, Pearson, P, Brockie, P, Foster, J, Johns, N, Mckenzie, S, Rothery, J, Thomas, G, Yates, S, Miller, J, Ritchie, S, Burrows, L, Fletcher, A, Harding, A, Laver, F, Silva, M, Thomson, A, Rowett, L, Gallantrae, D, Longthorpe, M, Markova, I, Raman, A, Hamer, S, Wild, S, Yarduiman, P, Chu, C, Kraus, A, Yardumian, P, Musgrave, H, Toscano, J, Jamieson, S, Hobson, E, Clayton, C, Dipple, H, Middleton, J, Freire Patino, D, Andrews, T, Dougherty, A, Kavalier, F, Golding, C, Laing, H, Lashwood, A, Robertson, D, Ruddy, D, Whaite, A, Santhouse, A, Patton, M, Peterson, M, Rose, S, Bruno, S, Chu, E, Doherty, K, Haider, S, Hensman, D, Lahiri, N, Lewis, M, Novak, M, Patel, A, Robertson, N, Rosser, E, Tabrizi, S, Taylor, R, Warner, T, Wild, E, Howard, L, Sollom, A, Snowden, J, Thompson, J, Jones, M, Murphy, H, Trender Gerhard, I, Rogers, D, Bek, J, Oughton, E, Johnson, L, Hare, M, Arran, N, Verstraelen, N, Partington Jones, L, Huson, S, Stopford, C, Westmoreland, L, Davidson, J, Morgan, K, Savage, L, Singh, B, Komati, S, Nemeth, Ah, Armstrong, R, Valentine, R, Siuda, G, Harrison, D, Hughes, M, Parkinson, A, Soltysiak, B, Burn, J, Coleman, C, Bandmann, O, Bradbury, A, Gill, P, Fairtlough, H, Fillingham, K, Foustanos, I, Kazoka, M, O'Donovan, K, Taylor, C, Tidswell, K, Quarrell, O., Laboratoire de Psychologie des Pays de la Loire (LPPL), Université d'Angers (UA)-Université de Nantes - UFR Lettres et Langages (UFRLL), Université de Nantes (UN)-Université de Nantes (UN), A. A., M, E. v., Duijn, R. A., C, D., Craufurd, H., Rickard, G. B., Landwehrmeyer, R. C., Van, E. J., Giltay, R. E., G., Rinaldi, Carlo, Anna A.M. Huber, Erik van Duijn, Raymund A.C. Roo, David Craufurd, Hugh Rickard, G. Bernhard Landwehrmeyer, Rose C. van der Mast, Erik J. Giltay REGISTRY investigators of the European Huntington's Disease Network. Collaborators: Bachoud-Lévi AC, Bentivoglio AR, Biunno I, Bonelli RM, Burgunder JM, Dunnett SB, Ferreira JJ, Handley OJ, Heiberg A, llmann TI, Landwehrmeyer GB, Levey J, Ramos-Arroyo MA, Nielsen JE, ProKoivisto S, Päivärinta M, Roos RA, Rojo Sebastián A, Tabrizi SJ, Vandenberghe W, Verellen- Dumoulin C, Zaremba J, Uhrova T, Wahlström J, Barth K, Correia-Guedes L, Finisterra AM, Garde MB, Bos R, Betz S, Callaghan J, Fullam R, Ecker D, Nielsen MG, Hvalstedt C, Held C, Koppers K, Laurà M, Horta SM, Descals AM, Mestre T, Minster S, Monza D, Mütze L, Oehmen M, Townhill J, Orth M, Padieu H, Paterski L, Peppa N, Pro Koivisto S, Roedig V, Rialland A, Røren N, Šašinková P, Seliverstov Y, Cubillo PT, Walsem MR, Wright A, da Silva WV, Witjes-Ané MN, Yudina E, Zielonka D, Zielonka E, Zinzi P, Herranhof B, Holl A, Kapfhammer HP, Koppitz M, Magnet M, Otti D, Painold A, Reisinger K, Scheibl M, Hecht K, Lilek S, Müller N, Schöggl H, Ullah J, Brugger F, Hepperger C, Hotter A, Seppi K, Wenning G, Buratti L, Hametner EM, Holas C, Hussl A, Poewe W, Braunwarth EM, Sprenger F, Müller C, Sinadinosa D, Walleczek AM, Ladurner G, Staffen W, Flamez A, Morez V, de Raedt S, Boogaerts A, van Reijen D, Klempíř J, Majerová V, Roth J, Hartikainen P, Hiivola H, Martikainen K, Tuuha K, Ignatius J, Kärppä M, Åman J, Mustonen A, Kajula O, Santala M, Allain P, Guérid MA, Gohier B, Olivier A, Prundean A, Scherer- Gagou C, Verny C, Bost M, Babiloni B, Debruxelles S, Duché C, Goizet C, Lafoucrière D, Jameau L, Spampinato U, De Bruycker C, Cabaret M, Carette AS, Defebvre L, Decorte E, Delval A, Delliaux M, Destee A, Dujardin K, Peter M, Plomhouse L, Sablonnière B, Simonin C, Lemaire MH, Manouvrier S, Thibault-Tanchou S, Vuillaume I, Krystkowiak P, Duru C, Roussel M, Wannepain S, Berrissoul H, Bellonet M, Courtin F, Mantaux B, Fasquel V, Godefroy O, Azulay JP, Fluchère F, Delfini M, Eusebio A, Mundler L, Longato N, Rudolf G, Steinmetz G, Tranchant C, Wagner C, Zimmermann M, Marcel C, Calvas F, Pariente J, Démonet JF, Cheriet S, Kosinski CM, Milkereit E, Probst D, Reetz K, Sass C, Schiefer J, Schlangen C, Werner CJ, Gelderblom H, Priller J, Prüß H, Spruth EJ, Andrich J, Ellrichmann G, Hoffmann R, Kaminski B, Saft C, Stamm C, Lange H, Bosredon C, Maass A, Schmidt S, Storch A, Wolz M, Kohl Z, Winkler J, Capetian P, Lambeck J, Zucker B, Boelmans K, Ganos C, Goerendt I, Hidding U, Lewerenz J, Münchau A, Schmalfeld J, Stubbe L, Zittel S, Diercks G, Dressler D, Gorzolla H, Schrader C, Tacik P, Heinicke W, Longinus B, Bürk K, Möller JC, Rissling I, Mühlau M, Peinemann A, Städtler M, Weindl A, Winkelmann J, Ziegler C, Bohlen S, Hölzner E, Reilmann R, Dose M, Leythaeuser G, Marquard R, Raab T, Schrenk C, Schuierer M, Buck A, Connemann J, Eschenbach C, Landwehrmeyer B, Lezius F, Nepper S, Niess A, Schwenk D, Süßmuth S, Trautmann S, Weydt P, Cormio C, Sciruicchio V, Serpino C, Tommaso M, Capellari S, Cortelli P, Gallassi R, Poda R, Rizzo G, Scaglione C, Bertini E, Ghelli E, Ginestroni A, Massaro F, Mechi C, Paganini M, Piacentini S, Pradella S, Romoli AM, Sorbi S, Abbruzzese G, di Poggio MB, Di Maria E, Ferrandes G, Mandich P, Marchese R, Albanese A, Di Bella D, Di Donato S, Gellera C, Genitrini S, Mariotti C, Nanetti L, Paridi D, Soliveri P, Tomasello C, De Michele G, Di Maio L, Salvatore E, Rinaldi C, Rossi F, Massarelli M, Roca A, Ammendola S, Russo CV, Squitieri F, Elifani F, Maglione V, Di Pardo A, Alberti S, Griguoli A, Amico E, Martino T, Petrollini M, Catalli C, Di Giacopo R, Fasano A, Frontali M, Guidubaldi A, Ialongo T, Jacopini G, Loria G, Piano C, Chiara P, Quaranta D, Romano S, Soleti F, Spadaro M, van Hout MS, van Vugt JP, Weert A, Bolwijn J, Dekker M, Leenders K, Kremer HP, Dumas EM, van den Bogaard SJ, 't Hart EP, van Duijn E, Økland E, Hauge E, Tyvoll H, Frich J, Aaserud O, Wehus R, Bjørgo K, Fannemel M, Gørvell P, Lorentzen E, Koivisto SP, Retterstøl L, Overland T, Stokke B, Sando B, Dziadkiewicz A, Nowak M, Robowski P, Sitek E, Slawek J, Soltan W, Szinwelski M, Blaszcyk M, Boczarska-Jedynak M, Ciach-Wysocka E, Gorzkowska A, Jasinska-Myga B, Opala G, Kłodowska-Duda G, Stompel D, Banaszkiewicz K, Boćwińska D, Szczudlik A, Rudzińska M, Wójcik M, Dec M, Krawczyk M, Jaremek KB, Szczygieł E, Stenwak A, ielewska AW, Bryl A, Ciesielska A, Klimberg A, Marcinkowski J, Sempołowicz J, Samara H, Wiśniewski B, Janik P, Gogol A, Kwiecinski H, Jamrozik Z, Kaminska A, Antczak J, Jachinska K, Rakowicz M, Richter P, Rola R, Ryglewicz D, Sienkiewicz-Jarosz H, Stępniak I, Witkowski G, Zdzienicka E, Sułek A, Krysa W, Zieora-Jakutowicz K, Júlio F, Januário C, Coelho M, Mendes T, Valadas A, Timóteo Â, Costa C, Cavaco S, Damásio J, Loureiro R, Magalhães M, Andrade C, Gago M, Garrett C, Guerra MR, Lima J, Massano J, Meireles J, Herrera CD, Garcia PM, Barrero F, Morales B, Cubo E, Mariscal N, Sánchez J, Alonso-Frech F, Perez MR, Fenollar M, García RG, Quiroga PP, Rivera SV, Villanueva C, Alegre J, Bascuñana M, Caldentey JG, Ventura MF, Ribas GG, Yébenes JG, López-Sendón Moreno JL, García Ruíz PJ, Martínez-Descals A, Artiga MJ, Sánchez V, Guerrero R, Bárcenas AH, Noguera Perea MF, Fortuna L, Martirio M, Torres A, Reinante G, Moreau LV, Barbera MA, Guia DB, Hernanz LC, Catena JL, Sebastián AR, Ferrer PQ, Carruesco GT, Bas J, Busquets N, Calopa M, Elorza MD, Díez-AjaLópez C, Terol SD, Robert MF, Ruíz BG, Casado AG, Martínez IH, Viladrich CM, Càrdenas RP, Roca E, Llesoy JR, Idiago JM, Vergara MR, García SS, Riballo AV, González SG, Guisasola LM, Salvador C, San Martín ES, González M, Gorospe A, Legarda I, Arques PN, Torres Rodríguez MJ, Vives B, Gaston I, Martinez-Jaurrieta MD, Manuel J, Moreno G, Peña JC, Avarvarei LD, Bastida AM, Recio MF, Vergé LR, Sánchez VS, Carrillo F, Cáceres MT, Mir P, Suarez MJ, Bosca M, Burguera JA, Garcia AC, Brugada FC, Martínez LM, Val JL, Loutfi G, Olofsson C, Stattin EL, Westman L, Wikström B, lhagen SE, Paucar M, Svenningsson P, Reza- Soltani TW, Höglund A, Sandström B, Høsterey-Ugander U, Fredlund G, Constantinescu R, Neleborn-Lingefjärd L, Tedr- off J, Esmaeilzadeh M, Winnberg E, Pålhagen S, Svennigsson P, Riza-Soltani TW, Sundblom J, Johansson A, Wiklund L, Ekwall C, Göller ML, Petersén A, Reimer J, Widner H, Stebler Y, Kaelin A, Romero I, Schüpbach M, Weber S, Miedzybrodzka Z, Rae D, Downie L, Simpson S, Summers F, Ure A, Jack R, Matheson K, Akhtar S, Crooks J, Curtis A, Souza J, Rickards H, Wright J, Hayward B, Sieradzan K, Barker RA, O'Keefe D, Di Pietro A, Fisher K, Hill S, Mason S, Swain R, Valle N, Guzman, Bisson J, Busse M, Butcher C, Clenaghan C, Dunnett S, Handley O, Hunt S, Hughes A, Johnstone C, Jones L, Jones U, Khalil H, Owen M, Price K, Rose LE, Rosser A, Porteous M, Edwards M, Ho C, McGill M, Pearson P, Brockie P, Foster J, Johns N, McKenzie S, Rothery J, Thomas G, Yates S, Miller J, Ritchie S, Burrows L, Fletcher A, Harding A, Laver F, Silva M, Thomson A, Rowett L, Gallantrae D, Longthorpe M, Markova I, Raman A, Hamer S, Wild S, Yarduiman P, Chu C, Kraus A, Yardumian P, Musgrave H, Toscano J, Jamieson S, Hobson E, Clayton C, Dipple H, Middleton J, Freire-Patino D, Andrews T, Dougherty A, Kavalier F, Golding C, Laing H, Lashwood A, Robertson D, Ruddy D, Whaite A, Santhouse A, Patton M, Peterson M, Rose S, Bruno S, Chu E, Doherty K, Haider S, Hensman D, Lahiri N, Lewis M, Novak M, Patel A, Robertson N, Rosser E, Tabrizi S, Taylor R, Warner T, Wild E, Craufurd D, Howard L, Sollom A, Snowden J, Thompson J, Jones M, Murphy H, Trender-Gerhard I, Rogers D, Bek J, Oughton E, Johnson L, Hare M, Arran N, Verstraelen N, Partington-Jones L, Huson S, Stopford C, Westmoreland L, Davidson J, Morgan K, Savage L, Singh B, Komati S, Nemeth AH, Armstrong R, Valentine R, Siuda G, Harrison D, Hughes M, Parkinson A, Soltysiak B, Burn J, Coleman C, Bandmann O, Bradbury A, Gill P, Fairtlough H, Fillingham K, Foustanos I, Kazoka M, O'Donovan K, Taylor C, Tidswell K, Quarrell O., Molecular Neuroscience and Ageing Research (MOLAR), Hubers, Aa, van Duijn, E, Roos, Ra, Craufurd, D, Rickards, H, Bernhard Landwehrmeyer, G, van der Mast, Rc, Giltay, Ej, CollaboratorsBachoud Lévi AC, REGISTRY investigators of the European Huntington's Disease N. e. t. w. o. r. k., Bentivoglio, Ar, Biunno, I, Bonelli, Rm, Burgunder, Jm, Dunnett, Sb, Ferreira, Jj, Handley, Oj, Heiberg, A, Llmann, Ti, Landwehrmeyer, Gb, Levey, J, Ramos Arroyo, Ma, Nielsen, Je, Prokoivisto, S, Päivärinta, M, Rojo Sebastián, A, Tabrizi, Sj, Vandenberghe, W, Verellen Dumoulin, C, Zaremba, J, Uhrova, T, Wahlström, J, Barth, K, Correia Guedes, L, Finisterra, Am, Garde, Mb, Bos, R, Betz, S, Callaghan, J, Fullam, R, Ecker, D, Nielsen, Mg, Hvalstedt, C, Held, C, Koppers, K, Laurà, M, Horta, Sm, Descals, Am, Mestre, T, Minster, S, Monza, D, Mütze, L, Oehmen, M, Townhill, J, Orth, M, Padieu, H, Paterski, L, Peppa, N, Pro Koivisto, S, Roedig, V, Rialland, A, Røren, N, a??inková, P, Seliverstov, Y, Cubillo, Pt, Walsem, Mr, Wright, A, da Silva, Wv, Witjes Ané, Mn, Yudina, E, Zielonka, D, Zielonka, E, Zinzi, P, Herranhof, B, Holl, A, Kapfhammer, Hp, Koppitz, M, Magnet, M, Otti, D, Painold, A, Reisinger, K, Scheibl, M, Hecht, K, Lilek, S, Müller, N, Schöggl, H, Ullah, J, Brugger, F, Hepperger, C, Hotter, A, Seppi, K, Wenning, G, Buratti, L, Hametner, Em, Holas, C, Hussl, A, Poewe, W, Braunwarth, Em, Sprenger, F, Müller, C, Sinadinosa, D, Walleczek, Am, Ladurner, G, Staffen, W, Flamez, A, Morez, V, de Raedt, S, Boogaerts, A, van Reijen, D, Klempí??, J, Majerová, V, Roth, J, Hartikainen, P, Hiivola, H, Martikainen, K, Tuuha, K, Ignatius, J, Kärppä, M, Åman, J, Mustonen, A, Kajula, O, Santala, M, Allain, P, Guérid, Ma, Gohier, B, Olivier, A, Prundean, A, Scherer Gagou, C, Verny, C, Bost, M, Babiloni, B, Debruxelles, S, Duché, C, Goizet, C, Lafoucrière, D, Jameau, L, Spampinato, U, De Bruycker, C, Cabaret, M, Carette, A, Defebvre, L, Decorte, E, Delval, A, Delliaux, M, Destee, A, Dujardin, K, Peter, M, Plomhouse, L, Sablonnière, B, Simonin, C, Lemaire, Mh, Manouvrier, S, Thibault Tanchou, S, Vuillaume, I, Krystkowiak, P, Duru, C, Roussel, M, Wannepain, S, Berrissoul, H, Bellonet, M, Courtin, F, Mantaux, B, Fasquel, V, Godefroy, O, Azulay, Jp, Fluchère, F, Delfini, M, Eusebio, A, Mundler, L, Longato, N, Rudolf, G, Steinmetz, G, Tranchant, C, Wagner, C, Zimmermann, M, Marcel, C, Calvas, F, Pariente, J, Démonet, Jf, Cheriet, S, Kosinski, Cm, Milkereit, E, Probst, D, Reetz, K, Sass, C, Schiefer, J, Schlangen, C, Werner, Cj, Gelderblom, H, Priller, J, Prüß, H, Spruth, Ej, Andrich, J, Ellrichmann, G, Hoffmann, R, Kaminski, B, Saft, C, Stamm, C, Lange, H, Bosredon, C, Maass, A, Schmidt, S, Storch, A, Wolz, M, Kohl, Z, Winkler, J, Capetian, P, Lambeck, J, Zucker, B, Boelmans, K, Ganos, C, Goerendt, I, Hidding, U, Lewerenz, J, Münchau, A, Schmalfeld, J, Stubbe, L, Zittel, S, Diercks, G, Dressler, D, Gorzolla, H, Schrader, C, Tacik, P, Heinicke, W, Longinus, B, Bürk, K, Möller, Jc, Rissling, I, Mühlau, M, Peinemann, A, Städtler, M, Weindl, A, Winkelmann, J, Ziegler, C, Bohlen, S, Hölzner, E, Reilmann, R, Dose, M, Leythaeuser, G, Marquard, R, Raab, T, Schrenk, C, Schuierer, M, Buck, A, Connemann, J, Eschenbach, C, Landwehrmeyer, B, Lezius, F, Nepper, S, Niess, A, Schwenk, D, Süßmuth, S, Trautmann, S, Weydt, P, Cormio, C, Sciruicchio, V, Serpino, C, Tommaso, M, Capellari, S, Cortelli, P, Gallassi, R, Poda, R, Rizzo, G, Scaglione, C, Bertini, E, Ghelli, E, Ginestroni, A, Massaro, F, Mechi, C, Paganini, M, Piacentini, S, Pradella, S, Romoli, Am, Sorbi, S, Abbruzzese, G, di Poggio, Mb, Di Maria, E, Ferrandes, G, Mandich, P, Marchese, R, Albanese, A, Di Bella, D, Di Donato, S, Gellera, C, Genitrini, S, Mariotti, C, Nanetti, L, Paridi, D, Soliveri, P, Tomasello, C, DE MICHELE, Giuseppe, Di Maio, L, Salvatore, Elena, Rossi, F, Massarelli, Marco, Roca, Alessandro, Ammendola, S, Russo, Cinzia, Squitieri, F, Elifani, F, Maglione, V, Di Pardo, A, Alberti, S, Griguoli, A, Amico, E, Martino, T, Petrollini, M, Catalli, C, Di Giacopo, R, Fasano, A, Frontali, M, Guidubaldi, A, Ialongo, T, Jacopini, G, Loria, G, Piano, C, Chiara, P, Quaranta, D, Romano, S, Soleti, F, Spadaro, M, Rinaldi, C, Massarelli, M, Roca, A, Russo, Cv, van Hout, M, van Vugt, Jp, Weert, A, Bolwijn, J, Dekker, M, Leenders, K, Kremer, Hp, Dumas, Em, van den Bogaard, Sj, 't Hart, Ep, Økland, E, Hauge, E, Tyvoll, H, Frich, J, Aaserud, O, Wehus, R, Bjørgo, K, Fannemel, M, Gørvell, P, Lorentzen, E, Koivisto, Sp, Retterstøl, L, Overland, T, Stokke, B, Sando, B, Dziadkiewicz, A, Nowak, M, Robowski, P, Sitek, E, Slawek, J, Soltan, W, Szinwelski, M, Blaszcyk, M, Boczarska Jedynak, M, Ciach Wysocka, E, Gorzkowska, A, Jasinska Myga, B, Opala, G, K??odowska Duda, G, Stompel, D, Banaszkiewicz, K, Bo??wi??ska, D, Szczudlik, A, Rudzi??ska, M, Wójcik, M, Dec, M, Krawczyk, M, Jaremek, Kb, Szczygie??, E, Stenwak, A, Ielewska, Aw, Bryl, A, Ciesielska, A, Klimberg, A, Marcinkowski, J, Sempo??owicz, J, Samara, H, Wi??niewski, B, Janik, P, Gogol, A, Kwiecinski, H, Jamrozik, Z, Kaminska, A, Antczak, J, Jachinska, K, Rakowicz, M, Richter, P, Rola, R, Ryglewicz, D, Sienkiewicz Jarosz, H, St??pniak, I, Witkowski, G, Zdzienicka, E, Su??ek, A, Krysa, W, Zieora Jakutowicz, K, Júlio, F, Januário, C, Coelho, M, Mendes, T, Valadas, A, Timóteo, Â, Costa, C, Cavaco, S, Damásio, J, Loureiro, R, Magalhães, M, Andrade, C, Gago, M, Garrett, C, Guerra, Mr, Lima, J, Massano, J, Meireles, J, Herrera, Cd, Garcia, Pm, Barrero, F, Morales, B, Cubo, E, Mariscal, N, Sánchez, J, Alonso Frech, F, Perez, Mr, Fenollar, M, García, Rg, Quiroga, Pp, Rivera, Sv, Villanueva, C, Alegre, J, Bascuñana, M, Caldentey, Jg, Ventura, Mf, Ribas, Gg, Yébenes, Jg, López Sendón Moreno, Jl, García Ruíz, Pj, Martínez Descals, A, Artiga, Mj, Sánchez, V, Guerrero, R, Bárcenas, Ah, Noguera Perea, Mf, Fortuna, L, Martirio, M, Torres, A, Reinante, G, Moreau, Lv, Barbera, Ma, Guia, Db, Hernanz, Lc, Catena, Jl, Sebastián, Ar, Ferrer, Pq, Carruesco, Gt, Bas, J, Busquets, N, Calopa, M, Elorza, Md, Díez AjaLópez, C, Terol, Sd, Robert, Mf, Ruíz, Bg, Casado, Ag, Martínez, Ih, Viladrich, Cm, Càrdenas, Rp, Roca, E, Llesoy, Jr, Idiago, Jm, Vergara, Mr, García, S, Riballo, Av, González, Sg, Guisasola, Lm, Salvador, C, San Martín, E, González, M, Gorospe, A, Legarda, I, Arques, Pn, Torres Rodríguez, Mj, Vives, B, Gaston, I, Martinez Jaurrieta, Md, Manuel, J, Moreno, G, Peña, Jc, Avarvarei, Ld, Bastida, Am, Recio, Mf, Vergé, Lr, Carrillo, F, Cáceres, Mt, Mir, P, Suarez, Mj, Bosca, M, Burguera, Ja, Garcia, Ac, Brugada, Fc, Martínez, Lm, Val, Jl, Loutfi, G, Olofsson, C, Stattin, El, Westman, L, Wikström, B, Lhagen, Se, Paucar, M, Svenningsson, P, Reza Soltani, Tw, Höglund, A, Sandström, B, Høsterey Ugander, U, Fredlund, G, Constantinescu, R, Neleborn Lingefjärd, L, Tedr off, J, Esmaeilzadeh, M, Winnberg, E, Pålhagen, S, Svennigsson, P, Riza Soltani, Tw, Sundblom, J, Johansson, A, Wiklund, L, Ekwall, C, Göller, Ml, Petersén, A, Reimer, J, Widner, H, Stebler, Y, Kaelin, A, Romero, I, Schüpbach, M, Weber, S, Miedzybrodzka, Z, Rae, D, Downie, L, Simpson, S, Summers, F, Ure, A, Jack, R, Matheson, K, Akhtar, S, Crooks, J, Curtis, A, Souza, J, Wright, J, Hayward, B, Sieradzan, K, Barker, Ra, O'Keefe, D, Di Pietro, A, Fisher, K, Hill, S, Mason, S, Swain, R, Valle, N, Bisson, J, Busse, M, Butcher, C, Clenaghan, C, Dunnett, S, Handley, O, Hunt, S, Hughes, A, Johnstone, C, Jones, L, Jones, U, Khalil, H, Owen, M, Price, K, Rose, Le, Rosser, A, Porteous, M, Edwards, M, Ho, C, Mcgill, M, Pearson, P, Brockie, P, Foster, J, Johns, N, Mckenzie, S, Rothery, J, Thomas, G, Yates, S, Miller, J, Ritchie, S, Burrows, L, Fletcher, A, Harding, A, Laver, F, Silva, M, Thomson, A, Rowett, L, Gallantrae, D, Longthorpe, M, Markova, I, Raman, A, Hamer, S, Wild, S, Yarduiman, P, Chu, C, Kraus, A, Yardumian, P, Musgrave, H, Toscano, J, Jamieson, S, Hobson, E, Clayton, C, Dipple, H, Middleton, J, Freire Patino, D, Andrews, T, Dougherty, A, Kavalier, F, Golding, C, Laing, H, Lashwood, A, Robertson, D, Ruddy, D, Whaite, A, Santhouse, A, Patton, M, Peterson, M, Rose, S, Bruno, S, Chu, E, Doherty, K, Haider, S, Hensman, D, Lahiri, N, Lewis, M, Novak, M, Patel, A, Robertson, N, Rosser, E, Tabrizi, S, Taylor, R, Warner, T, Wild, E, Howard, L, Sollom, A, Snowden, J, Thompson, J, Jones, M, Murphy, H, Trender Gerhard, I, Rogers, D, Bek, J, Oughton, E, Johnson, L, Hare, M, Arran, N, Verstraelen, N, Partington Jones, L, Huson, S, Stopford, C, Westmoreland, L, Davidson, J, Morgan, K, Savage, L, Singh, B, Komati, S, Nemeth, Ah, Armstrong, R, Valentine, R, Siuda, G, Harrison, D, Hughes, M, Parkinson, A, Soltysiak, B, Burn, J, Coleman, C, Bandmann, O, Bradbury, A, Gill, P, Fairtlough, H, Fillingham, K, Foustanos, I, Kazoka, M, O'Donovan, K, Taylor, C, Tidswell, K, and Quarrell, O.
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Male ,medicine.medical_specialty ,Heterozygote ,Psychopharmacology ,Population ,Poison control ,psychology/statistics /&/ numerical data ,Suicide, Attempted ,Suicide prevention ,Suicidal Ideation ,[SHS]Humanities and Social Sciences ,03 medical and health sciences ,0302 clinical medicine ,medicine ,Prevalence ,Humans ,epidemiology, Europe ,Psychiatry ,education ,Suicidal ideation ,ComputingMilieux_MISCELLANEOUS ,Proportional Hazards Models ,Attempted ,Psychiatric Status Rating Scales ,education.field_of_study ,Psychological Tests ,Suicide attempt ,Psychopathology ,Depression ,Hazard ratio ,Huntington's disease ,Odds ratio ,Middle Aged ,3. Good health ,030227 psychiatry ,Europe ,psychology, Male, Middle Aged, Prevalence, Proportional Hazards Models, Psychiatric Status Rating Scales, Psychological Tests, Suicidal Ideation, Suicide ,Clinical Psychology ,Psychiatry and Mental health ,Suicide ,Huntington Disease ,epidemiology, Female, Heterozygote, Humans, Huntington Disease ,Cohort studies ,Female ,medicine.symptom ,Psychology ,030217 neurology & neurosurgery ,Clinical psychology - Abstract
BACKGROUND: Previous studies indicate increased prevalences of suicidal ideation, suicide attempts, and completed suicide in Huntington's disease (HD) compared with the general population. This study investigates correlates and predictors of suicidal ideation in HD.METHODS: The study cohort consisted of 2106 HD mutation carriers, all participating in the REGISTRY study of the European Huntington's Disease Network. Of the 1937 participants without suicidal ideation at baseline, 945 had one or more follow-up measurements. Participants were assessed for suicidal ideation by the behavioural subscale of the Unified Huntington's Disease Rating Scale (UHDRS). Correlates of suicidal ideation were analyzed using logistic regression analysis and predictors were analyzed using Cox regression analysis.RESULTS: At baseline, 169 (8.0%) mutation carriers endorsed suicidal ideation. Disease duration (odds ratio [OR]=0.96; 95% confidence interval [CI]: 0.9-1.0), anxiety (OR=2.14; 95%CI: 1.4-3.3), aggression (OR=2.41; 95%CI: 1.5-3.8), a previous suicide attempt (OR=3.95; 95%CI: 2.4-6.6), and a depressed mood (OR=13.71; 95%CI: 6.7-28.0) were independently correlated to suicidal ideation at baseline. The 4-year cumulative incidence of suicidal ideation was 9.9%. Longitudinally, the presence of a depressed mood (hazard ratio [HR]=2.05; 95%CI: 1.1-4.0) and use of benzodiazepines (HR=2.44; 95%CI: 1.2-5.0) at baseline were independent predictors of incident suicidal ideation, whereas a previous suicide attempt was not predictive.LIMITATIONS: As suicidal ideation was assessed by only one item, and participants were a selection of all HD mutation carriers, the prevalence of suicidal ideation was likely underestimated.CONCLUSIONS: Suicidal ideation in HD frequently occurs. Assessment of suicidal ideation is a priority in mutation carriers with a depressed mood and in those using benzodiazepines.
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- 2013
37. The V471A polymorphism in autophagy-related gene ATG7 modifies age at onset specifically in Italian Huntington disease patients
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Metzger S, Walter C, Riess O, Roos RA, Nielsen JE, Craufurd D, Nguyen HP, REGISTRY Investigators of the European Huntington’s Disease Network:Bachoud Lévi AC, Bentivoglio AR, Biunno I, Bonelli RM, Burgunder JM, Dunnett SB, Ferreira JJ, Handley OJ, Heiberg A, Illmann T, Landwehrmeyer G, Levey J, Ramos Arroyo MA, Nielsen J, Koivisto SP, Päivärinta M, Sebastián AR, Tabrizi S, Vandenberghe W, Verellen Dumoulin C, Zaremba J, Uhrová T, Wahlström J, Barth K, Correia Guedes L, Finisterra AM, Garde MB, Bos R, Betz S, Callaghan J, Fullam R, Ecker D, Nielsen MG, Hvalstedt C, Held C, Koppers K, Laurà M, Horta SM, Descals AM, Díaz MF, Mestre T, Minster S, Monza D, Mütze L, Oehmen M, Townhill J, Orth M, Padieu H, Paterski L, Peppa N, Roedig V, Rialland A, Røren N, Šašinková P, Seliverstov Y, Cubillo PT, van Walsem MR, Wright A, Silva WV, Witjes Anné MN, Yudina E, Zielonka D, Zielonka E, Zinzi P, Herranhof B, Holl A, Kapfhammer HP, Koppitz M, Magnet M, Otti D, Painold A, Reisinger K, Scheibl M, Hecht K, Lilek S, Müller N, Schöggl H, Ullah J, Ribaï P, Boogaerts A, van Reijen D, Klempíř J, Majerová V, Roth J, Hjermind L, Jacobsen O, Vinthev Jensen T, Larsen IU, Stockholm J, Hiivola H, Martikainen K, Tuuha K, Ignatius J, Kärppä M, Åman J, Mustonen A, Kajula O, Santala M, Allain P, Guérid MA, Gohier B, Olivier A, Prundean A, Scherer Gagou C, Verny C, Bost M, Babiloni B, Debruxelles S, Duché C, Goizet C, Lafoucrière D, Jameau L, Spampinato U, De Bruycker C, Cabaret M, Carette AS, Defebvre L, Decorte E, Delval A, Delliaux M, Destee A, Dujardin K, Peter M, Plomhouse L, Sablonnière B, Simonin C, Lemaire MH, Manouvrier S, Thibault Tanchou S, Vuillaume I, Krystkowiak P, Duru C, Roussel M, Wannepain S, Berrissoul H, Bellonet M, Courtin F, Mantaux B, Fasquel V, Godefroy O, Azulay JP, Fluchère F, Delfini M, Eusebio A, Mundler L, Longato N, Rudolf G, Steinmetz G, Tranchant C, Wagner C, Zimmermann MA, Marcel C, Andrich J, Ellrichmann G, Hoffmann R, Kaminski B, Saft C, Stamm C, Boelmans K, Ganos C, Goerendt I, Hidding U, Lewerenz J, Münchau A, Schmalfeld J, Stubbe L, Zittel S, Bürk K, Möller JC, Rissling I, Cormio C, Sciruicchio V, Serpino C, de Tommaso M, CAPELLARI, SABINA, CORTELLI, PIETRO, Gallassi R, PODA, ROBERTO, RIZZO, GIOVANNI, Scaglione C, Abbruzzese G, di Poggio MB, Di Maria E, Ferrandes G, Mandich P, Marchese R, Albanese A, Di Bella D, Di Donato S, Gellera C, Genitrini S, Mariotti C, Nanetti L, Paridi D, Soliveri P, Tomasello C, Squitieri F, Elifani F, Maglione V, Di Pardo A, Alberti S, Griguoli A, Amico E, Martino T, Petrollini M, Catalli C, Di Giacopo R, Fasano A, Frontali M, Guidubaldi A, Ialongo T, Jacopini G, Loria G, Piano C, Chiara P, Quaranta D, Romano S, Soleti F, Spadaro M, van Hout MS, van Vugt JP, de Weert A, Bolwijn JJ, Dekker M, Leenders KL, Dumas EM, van den Bogaard SJ, 't Hart EP, van Duijn E, Kremer B, Verstappen CC, Blinkenberg EØ, Hauge E, Tyvoll H, Frich J, Aaserud O, Wehus R, Bjørgo K, Fannemel M, Gørvell P, Lorentzen E, Retterstøl L, Overland T, Stokke B, Bjørnevoll I, Sando SB, Dziadkiewicz A, Nowak M, Robowski P, Sitek E, Slawek J, Soltan W, Szinwelski M, Blaszcyk M, Boczarska Jedynak M, Ciach Wysocka E, Gorzkowska A, Jasinska Myga B, Opala G, Kłodowska Duda G, Stompel D, Banaszkiewicz K, Boćwińska D, Szczudlik A, Rudzinska M, Wójcik M, Dec M, Krawczyk M, Bojakowska Jaremek K, Szczygieł E, Stenwak A, Wasielewska A, Bryl A, Ciesielska A, Klimberg A, Marcinkowski J, Sempołowicz J, Samara H, Wiśniewski B, Janik P, Gogol A, Kwiecinski H, Jamrozik Z, Kaminska A, Antczak J, Jachinska K, Rakowicz M, Richter P, Rola R, Ryglewicz D, Sienkiewicz Jarosz H, Stępniak I, Witkowski G, Zdzienicka E, Sułek A, Krysa W, Stepniak I, Zieora Jakutowicz K, Júlio F, Januário C, Coelho M, Mendes T, Valadas A, Andrade C, Gago M, Garrett C, Guerra MR, Lima J, Massano J, Meireles J, Herrera CD, Garcia PM, Barrero F, Morales B, Cubo E, Mariscal N, Sánchez J, Alonso Frech F, Perez MR, Fenollar M, García RG, Pin Quiroga P, Vázquez Rivera S, Villanueva C, Alegre J, Bascuñana M, Caldentey JG, Ventura MF, Ribas GG, de Yébenes JG, Moreno JL, Ruíz PJ, Martínez Descals A, Artiga MJ, Sánchez V, Guerrero R, Bárcenas AH, Perea MF, Fortuna L, Torres MM, Reinante G, Moreau LV, Barbera MA, Guia DB, Hernanz LC, Catena JL, Ferrer PQ, Carruesco GT, Bas J, Busquets N, Calopa M, Elorza MD, López CD, Durán Sindreu Terol S, Robert MF, Ruíz BG, Casado AG, Martínez IH, Viladrich CM, Cárdenas RP, Roca E, Llesoy JR, Idiago JM, Vergara MR, García SS, Riballo AV, González SG, Guisasola LM, Salvador C, Martín ES, González M, Gorospe A, Legarda I, Arques PN, Rodríguez MJ, Vives B, Gaston I, Martinez Jaurrieta MD, Moreno JM, Peña JC, Avarvarei LD, Bastida AM, Recio MF, Vergé LR, Sánchez VS, Carrillo F, Cáceres MT, Mir P, Suarez MJ, Loutfi G, Olofsson C, Stattin EL, Westman L, Wikström B, Pålhagen SE, Paucar M, Svenningsson P, Reza Soltani TW, Höglund A, Sandström B, Høsterey Ugander U, Fredlund G, Constantinescu R, Neleborn Lingefjärd L, Stebler Y, Kaelin A, Romero I, Schüpbach M, Zaugg SW, Miedzybrodzka Z, Rae D, Downie L, Simpson S, Summers F, Ure A, Jack R, Matheson K, Akhtar S, Crooks J, Curtis A, de Souza J, Rickards H, Wright J, Barker RA, O' Keefe D, Di Pietro A, Fisher K, Goodman A, Hill S, Mason S, Swain R, Guzman NV, Bisson J, Busse M, Butcher C, Clenaghan C, Dunnett S, Handley O, Hunt S, Hughes A, Johnstone C, Jones L, Jones U, Khalil H, Owen M, Price K, Rose LE, Rosser A, Porteous M, Edwards M, Ho C, McGill M, Pearson P, Brockie P, Foster J, Johns N, McKenzie S, Rothery J, Thomas G, Yates S, Burrows L, Fletcher A, Harding A, Laver F, Silva M, Thomson A, Rowett L, Gallantrae D, Longthorpe M, Markova I, Raman A, Hamer S, Yarduiman P, Chu C, Kraus A, Wild S, Musgrave H, Toscano J, Jamieson S, Hobson E, Clayton C, Dipple H, Middleton J, Freire Patino D, Andrews T, Dougherty A, Kavalier F, Golding C, Laing H, Lashwood A, Robertson D, Ruddy D, Whaite A, Santhouse A, Patton M, Peterson M, Rose S, Bruno S, Chu E, Doherty K, Haider S, Hensman D, Lahiri N, Lewis M, Novak M, Patel A, Robertson N, Rosser E, Taylor R, Warner T, Wild E, Howard L, Sollom A, Snowden J, Thompson J, Jones M, Murphy H, Trender Gerhard I, Rogers D, Bek J, Oughton E, Johnson L, Hare M, Arran N, Verstraelen N, Partington Jones L, Huson S, Stopford C, Westmoreland L, Davidson J, Morgan K, Savage L, Singh B, Komati S, Nemeth AH, Armstrong R, Valentine R, Siuda G, Harrison D, Hughes M, Parkinson A, Soltysiak B, Bandmann O, Bradbury A, Gill P, Fairtlough H, Fillingham K, Foustanos I, Kazoka M, O' Donovan K, Taylor C, Tidswell K, Quarrell O, Metzger S, Walter C, Riess O, Roos RA, Nielsen JE, Craufurd D, Nguyen HP, REGISTRY Investigators of the European Huntington’s Disease Network:Bachoud-Lévi AC, Bentivoglio AR, Biunno I, Bonelli RM, Burgunder JM, Dunnett SB, Ferreira JJ, Handley OJ, Heiberg A, Illmann T, Landwehrmeyer G, Levey J, Ramos-Arroyo MA, Nielsen J, Koivisto SP, Päivärinta M, Sebastián AR, Tabrizi S, Vandenberghe W, Verellen-Dumoulin C, Zaremba J, Uhrová T, Wahlström J, Barth K, Correia-Guedes L, Finisterra AM, Garde MB, Bos R, Betz S, Callaghan J, Fullam R, Ecker D, Nielsen MG, Hvalstedt C, Held C, Koppers K, Laurà M, Horta SM, Descals AM, Díaz MF, Mestre T, Minster S, Monza D, Mütze L, Oehmen M, Townhill J, Orth M, Padieu H, Paterski L, Peppa N, Roedig V, Rialland A, Røren N, Šašinková P, Seliverstov Y, Cubillo PT, van Walsem MR, Wright A, Silva WV, Witjes-Anné MN, Yudina E, Zielonka D, Zielonka E, Zinzi P, Herranhof B, Holl A, Kapfhammer HP, Koppitz M, Magnet M, Otti D, Painold A, Reisinger K, Scheibl M, Hecht K, Lilek S, Müller N, Schöggl H, Ullah J, Ribaï P, Boogaerts A, van Reijen D, Klempíř J, Majerová V, Roth J, Hjermind L, Jacobsen O, Vinthev-Jensen T, Larsen IU, Stockholm J, Hiivola H, Martikainen K, Tuuha K, Ignatius J, Kärppä M, Åman J, Mustonen A, Kajula O, Santala M, Allain P, Guérid MA, Gohier B, Olivier A, Prundean A, Scherer-Gagou C, Verny C, Bost M, Babiloni B, Debruxelles S, Duché C, Goizet C, Lafoucrière D, Jameau L, Spampinato U, De Bruycker C, Cabaret M, Carette AS, Defebvre L, Decorte E, Delval A, Delliaux M, Destee A, Dujardin K, Peter M, Plomhouse L, Sablonnière B, Simonin C, Lemaire MH, Manouvrier S, Thibault-Tanchou S, Vuillaume I, Krystkowiak P, Duru C, Roussel M, Wannepain S, Berrissoul H, Bellonet M, Courtin F, Mantaux B, Fasquel V, Godefroy O, Azulay JP, Fluchère F, Delfini M, Eusebio A, Mundler L, Longato N, Rudolf G, Steinmetz G, Tranchant C, Wagner C, Zimmermann MA, Marcel C, Andrich J, Ellrichmann G, Hoffmann R, Kaminski B, Saft C, Stamm C, Boelmans K, Ganos C, Goerendt I, Hidding U, Lewerenz J, Münchau A, Schmalfeld J, Stubbe L, Zittel S, Bürk K, Möller JC, Rissling I, Cormio C, Sciruicchio V, Serpino C, de Tommaso M, Capellari S, Cortelli P, Gallassi R, Poda R, Rizzo G, Scaglione C, Abbruzzese G, di Poggio MB, Di Maria E, Ferrandes G, Mandich P, Marchese R, Albanese A, Di Bella D, Di Donato S, Gellera C, Genitrini S, Mariotti C, Nanetti L, Paridi D, 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M, Parkinson A, Soltysiak B, Bandmann O, Bradbury A, Gill P, Fairtlough H, Fillingham K, Foustanos I, Kazoka M, O' Donovan K, Taylor C, Tidswell K, and Quarrell O
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Adult ,Adolescent ,Genotype ,Huntington ,Ubiquitin-Activating Enzymes ,Autophagy-Related Protein 7 ,Polymorphism, Single Nucleotide ,Cohort Studies ,Young Adult ,Gene Frequency ,V471A polymorphism ,Genetics ,Autophagy ,Humans ,Age of Onset ,Child ,Biology ,Genetic Association Studies ,Aged ,Clinical Genetics ,Evolutionary Biology ,Computational Biology ,Human Genetics ,Middle Aged ,Huntington Disease ,Neurology ,Italy ,Autosomal Dominant ,Child, Preschool ,Genetic Polymorphism ,Medicine ,Population Genetics ,gene ATG7 ,Research Article - Abstract
The cause of Huntington disease (HD) is a polyglutamine repeat expansion of more than 36 units in the huntingtin protein, which is inversely correlated with the age at onset of the disease. However, additional genetic factors are believed to modify the course and the age at onset of HD. Recently, we identified the V471A polymorphism in the autophagy-related gene ATG7, a key component of the autophagy pathway that plays an important role in HD pathogenesis, to be associated with the age at onset in a large group of European Huntington disease patients. To confirm this association in a second independent patient cohort, we analysed the ATG7 V471A polymorphism in additional 1,464 European HD patients of the "REGISTRY" cohort from the European Huntington Disease Network (EHDN). In the entire REGISTRY cohort we could not confirm a modifying effect of the ATG7 V471A polymorphism. However, analysing a modifying effect of ATG7 in these REGISTRY patients and in patients of our previous HD cohort according to their ethnic origin, we identified a significant effect of the ATG7 V471A polymorphism on the HD age at onset only in the Italian population (327 patients). In these Italian patients, the polymorphism is associated with a 6-years earlier disease onset and thus seems to have an aggravating effect. We could specify the role of ATG7 as a genetic modifier for HD particularly in the Italian population. This result affirms the modifying influence of the autophagic pathway on the course of HD, but also suggests population-specific modifying mechanisms in HD pathogenesis.
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- 2013
38. Observing Huntington's disease: the European Huntington's Disease Network's REGISTRY
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B., Bentivoglio, Ar, Biunno, I, Bonelli, R, Burgunder, Jm, Dunnett, Sb, Ferreira, Jj, Giuliano, J, Heiberg, A, Illmann, T, van Kammen, D, Landwehrmeye, Gb, Levey, J, Nielsen, Je, Päivärinta, M, Roos, Ra, Sebastián, Ar, Vandenberghe, W, Verellen Dumoulin, C, Zaremba, J, Uhrova, T, Wahlström, J, Wallner, M, Barth, K, Guedes, Lc, Finisterra, Am, Garde, Mb, Bos, R, Burg, S, Ecker, D, Held, C, Koppers, K, Laurà, M, Descals, Am, Mclean, T, Mestre, T, Minster, S, Monza, D, Townhill, J, Padieu, H, Paterski, L, Peppa, N, Koivisto, Sp, Rialland, A, Røren, N, Sasinková, P, Cubillo, Pt, Tritsch, C, van Walsem, Mr, Witjes Ané, Mn, Yudina, E, Zielonka, D, Zielonka, E, Zinzi, P, Bonelli, Rm, Herranhof, B, Holl, A, Kapfhammer, Hp, Koppitz, M, Magnet, M, Otti, D, Painold, A, Reisinger, K, Scheibl, M, Hecht, K, Lilek, S, Müller, N, Schöggl, H, Ullah, J, Brugger, F, Hepperger, C, Hotter, A, Mahlknecht, P, Nocker, M, Seppi, K, Wenning, G, Buratti, L, Hametner, Em, Holas, C, Hussl, A, Mair, K, Poewe, W, Wolf, E, Zangerl, A, Braunwarth, Em, Sinadinosa, D, Walleczek, Am, Ladurner, G, Staffen, W, Ribaï, P, Flamez, A, Morez, V, de Raedt, S, Boogaerts, A, van Reijen, D, Klempíř, J, Kucharík, M, Roth, J, Šenkárová, Z, Hasholt, L, Hjermind, Le, Jakobsen, O, Nørremølle, A, Sørensen, Sa, Stokholm, J, Nielsen, J, Hiivola, H, Martikainen, K, Tuuha, K, Peippo, M, Sipponen, M, Ignatius, J, Kärppä, M, Åman, J, Santala, M, Allain, P, Guérid, Ma, Gohier, B, Olivier, A, Prundean, A, Scherer Gagou, C, Verny, C, Babiloni, B, Debruxelles, S, Goizet, C, Lafoucrière, D, De Bruycker, C, Carette, A, Decorte, E, Delval, A, Delliaux, M, Dujardin, K, Peter, M, Plomhouse, L, Simonin, C, Thibault Tanchou, S, Bellonet, M, Duru, C, Krystkowiak, P, Roussel, M, Wannepain, S, Azulay, Jp, Chabot, C, Delphini, M, Eusebio, A, Grosjean, H, Mundler, L, Nowak, M, Rudolf, G, Steinmetz, G, Tranchant, C, Wagner, C, Zimmermann, Ma, Calvas, F, Cheriet, S, Démonet, Jf, Galitzky, M, Kosinski, Cm, Milkereit, E, Probst, D, Sass, C, Schiefer, J, Schlangen, C, Werner, Cj, Gelderblom, H, Priller, J, Prüss, H, Spruth, Ej, Andrich, J, Hoffmann, R, Kraus, Ph, Muth, S, Prehn, C, Saft, C, Salmen, S, Stamm, C, Steiner, T, Strassburger, K, Lange, H, Friedrich, A, Hunger, U, Löhle, M, Schmidt, S, Storch, A, Wolz, A, Wolz, M, Lambeck, J, Zucker, B, Boelmans, K, Ganos, C, Hidding, U, Lewerenz, J, Münchau, A, Schmalfeld, J, Stubbe, L, Zittel, S, Diercks, G, Gorzolla, H, Schrader, C, Heinicke, W, Ribbat, M, Longinus, B, Bürk, K, Möller, Jc, Rissling, I, Peinemann, A, Städtler, M, Weindl, A, Bechtel, N, Beckmann, H, Bohlen, S, Hölzner, E, Reilmann, R, Rohm, S, Rumpf, S, Schepers, S, Beister, A, Dose, M, Hammer, K, Kieni, J, Leythaeuser, G, Marquard, R, Raab, T, Richter, S, Selimbegovic Turkovic, A, Schrenk, C, Schuierer, M, Wiedemann, A, Buck, A, Connemann, J, Eschenbach, C, Landwehrmeyer, B, Lezius, F, Nepper, S, Niess, A, Süssmuth, S, Trautmann, S, Weydt, P, Cormio, C, Difruscolo, O, Sciruicchio, V, Serpino, C, de Tommaso, M, Capellari, S, Cortelli, P, Gallassi, R, Poda, R, Rizzo, G, Scaglione, C, Bertini, E, Ghelli, E, Ginestroni, A, Massaro, F, Mechi, C, Paganini, M, Piacentini, S, Pradella, S, Romoli, Am, Sorbi, S, Abbruzzese, G, di Poggio, Mb, Di Maria, E, Ferrandes, G, Mandich, P, Marchese, R, Albanese, A, Di Bella, D, Di Donato, S, Gellera, C, Genitrini, S, Mariotti, C, Nanetti, L, Paridi, D, Soliveri, P, Tomasello, C, DE MICHELE, Giuseppe, Di Maio, L, Rinaldi, Carlo, Russo, Cv, Salvatore, Elena, Tucci, T, Cannella, M, Codella, V, De Gregorio, F, De Nicola, N, Martino, T, Simonelli, M, Squitieri, F, Catalli, C, Di Giacopo, R, Fasano, A, Frontali, M, Guidubaldi, A, Ialongo, T, Jacopini, G, Loria, G, Modoni, A, Piano, C, Chiara, P, Quaranta, D, Romano, S, Soleti, F, Spadaro, M, van Hout, M, van Vugt, Jp, de Weert, Am, Bolwijn, Jj, Dekker, M, Leenders, Kl, van Oostrom, Jc, Dumas, Em, Jurgens, Ck, van den Bogaard, Sj, 't Hart, Ep, Kremer, B, Verstappen, Cc, Frich, J, Wehus, R, Aaserud, O, Borgerød, N, Bjørgo, K, Fannemel, M, Gørvell, P, Pro Koivisto, S, Retterstøl, L, Overland, T, Stokke, B, Bjørnevoll, I, Sando, Sb, Blinkenberg, Eø, Hauge, E, Tyvoll, H, Sitek, E, Slawek, J, Soltan, W, Boczarska Jedynak, M, Jasinska Myga, B, Opala, G, Kłodowska Duda, G, Banaszkiewicz, K, Szczudlik, A, Rudzińska, M, Wójcik, M, Dec, M, Krawczyk, M, Bryl, A, Ciesielska, A, Klimberg, A, Marcinkowski, J, Sempołowicz, J, Samara, H, Janik, P, Kalbarczyk, A, Kwiecinski, H, Jamrozik, Z, Antczak, J, Jachinska, K, Rakowicz, M, Richter, P, Ryglewicz, D, Witkowski, G, Zdzienicka, E, Sułek, A, Krysa, W, Júlio, F, Januário, C, Guedes, L, Coelho, M, Mendes, T, Valadas, A, Timóteo, Â, Costa, C, Vale, J, Cavaco, S, Damásio, J, Magalhães, M, Gago, M, Garrett, C, Guerra, Mr, Solis, P, Herrera, Cd, Garcia, Pm, Barrero, F, Morales, B, Cubo, E, Mariscal, N, Alonso Frech, F, Perez, Mr, Fenollar, M, García, Rg, Quiroga, Pp, Rivera, Sv, Villanueva, C, Bascuñana, M, Ventura, Mf, Ribas, Gg, de Yébenes, Jg, Moreno, Jl, Ruíz, Pj, Martínez Descals, A, Artiga, Mj, Sánchez, V, Perea, Mf, Lorenza, F, Torres, Mm, Reinante, G, Moreau, Lv, Barbera, Ma, Guia, Db, Hernanz, Lc, Catena, Jl, Ferrer, Pq, Carruesco, Gt, Bas, J, Busquets, N, Calopa, M, Buongiorno, Mt, Muñoz, E, Elorza, Md, López, Cd, Terol, Sd, Robert, Mf, Ruíz, Bg, Casado, Ag, Martínez, Ih, Viladrich, Cm, Pons i., Càrdenas R, Roca, E, Llesoy, Jr, Idiago, Jm, Vergara, Mr, García, S, Villa Riballo, A, González, Sg, Guisasola, Lm, Salvador, C, San Martín, E, Gorospe, A, Legarda, I, Arques, Pn, Rodríguez, Mj, Vives, B, Gaston, I, Ramos Arroyo, Ma, Moreno, Jm, Peña, Jc, Avarvarei, Ld, Bastida, Am, Recio, Mf, Vergé, Lr, Carrillo, F, Cáceres, Mt, Mir, P, Suarez, Mj, Bosca, M, Burguera, Ja, Garcia, Ac, Martínez, Lm, del Val, Jl, Loutfi, G, Olofsson, C, Stattin, El, Westman, L, Wikström, B, Höglund, A, Pålhagen, Se, Paucar, M, Sandström, B, Soltani, R, Svenningsson, P, Reza Soltani, Tw, Constantinescu, R, Fredlund, G, Høsterey Ugander, U, Neleborn Lingefjärd, L, Esmaeilzadeh, M, Tedroff, J, Winnberg, E, Björn, Y, Ekwall, C, Gøller, Ml, Johansson, A, Wiklund, L, Petersen, Å, Reimer, J, Widner, H, Burgunder, Y, Stebler, Y, Kaelin, A, Romero, I, Schüpbach, M, Zaugg, Sw, Jack, R, Matheson, K, Miedzybrodzka, Z, Rae, D, Simpson, S, Summers, F, Ure, A, Crooks, J, Curtis, A, de Souza Keylock, J, Rickards, H, Wright, J, Hayward, B, Sieradzan, K, Wright, A, Barker, Ra, Di Pietro, A, Fisher, K, Goodman, A, Hill, S, Kershaw, A, Mason, S, Paterson, N, Raymond, L, Bisson, J, Busse, M, Clenaghan, C, Ellison Rose, L, Handley, O, Hunt, S, Price, K, Rosser, A, Edwards, M, Hughes, T, Mcgill, M, Pearson, P, Porteous, M, Smith, P, Zeman, A, Causley, A, Harrower, T, Howcroft, D, Lambord, N, Rankin, J, Brockie, P, Foster, J, Johns, N, Mckenzie, S, Rothery, J, Thomas, G, Yates, S, Miller, J, Ritchie, S, Burrows, L, Fletcher, A, Harding, A, Laver, F, Silva, M, Thomson, A, Burns, P, Chu, C, Evans, C, Hamer, S, Markova, I, Raman, A, Barnes, K, Hobson, E, Jamieson, S, Thomson, J, Toscano, J, Wild, S, Yardumian, P, Bourne, C, Clayton, C, Dipple, H, Clapton, J, Grant, D, Hallam, C, Middleton, J, Murch, A, Patino, D, Bate, L, Pate, L, Andrews, T, Dougherty, A, Kavalier, F, Golding, C, Lashwood, A, Robertson, D, Ruddy, D, Whaite, A, Patton, M, Peterson, M, Rose, S, Bruno, S, Chu, E, Doherty, K, Henley, S, Lahiri, N, Novak, M, Patel, A, Read, J, Rosser, E, Say, M, Tabrizi, S, Taylor, R, Warner, T, Wild, E, Arran, N, Callaghan, J, Craufurd, D, Fullam, R, Howard, L, Huson, S, Oughton, E, Partington Jones, L, Snowden, J, Sollom, A, Stopford, C, Thompson, J, Trender Gerhad, I, Verstraelen, N, Westmoreland, L, Nemeth, Ah, Siuda, G, Harrison, D, Hughes, M, Parkinson, A, Soltysiak, B, Burn, J, Coleman, C, Majeed, T, Verstraelen Ritchie, N, Bandmann, O, Bradbury, A, Gill, P, Fairtlough, H, Fillingham, K, Foustanos, I, O'Donovan, K, Tidswell, K, Quarrell, O., Faculty of Economic and Social Sciences and Solvay Business School, Neurology, Clinical sciences, Neuroprotection & Neuromodulation, Orth M., European Huntington's Disease Network, Handley O.J., Schwenke C., Dunnet S., Wild E.J., Tabrizi S.J., Landwehrmeyer G.B., Capellari S., Cortelli P., Gallassi R., Poda R., Rizzo G., and Scaglione C.
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Gerontology ,medicine.medical_specialty ,Neurology ,International Cooperation ,Disease ,Irritability ,Data Collection/methods ,Huntington's disease ,medicine ,Humans ,Registries ,Psychiatry ,Suicidal ideation ,Disease burden ,business.industry ,Data Collection ,medicine.disease ,Europe ,Huntington Disease ,Psychiatry and Mental health ,European Huntington's Disease Network ,Surgery ,Observational study ,Neurology (clinical) ,medicine.symptom ,business - Abstract
BACKGROUND: Huntington's disease (HD) is a rare triplet repeat (CAG) disorder. Advanced, multi-centre, multi-national research frameworks are needed to study simultaneously multiple complementary aspects of HD. This includes the natural history of HD, its management and the collection of clinical information and biosamples for research. METHODS: We report on cross-sectional data of the first 1766 participants in REGISTRY, the European Huntington's Disease Network's (EHDN), multi-lingual, multi-national prospective observational study of HD in Europe. Data collection (demographics, phenotype, genotype, medication, co-morbidities, biosamples) followed a standard protocol. RESULTS: Phenotype, and the HD genotype, of manifest HD participants across different European regions was similar. Motor onset was most common (48%) with a non-motor onset in more than a third of participants. Motor signs increased, and cognitive abilities and functional capacity declined as the disease burden (CAGn-35.5) X age) increased. A life-time history of behavioural symptoms was common, but the behavioural score was not related to disease burden. One fifth of participants had severe psychiatric problems, e.g. suicidal ideation and attempts, and/or irritability/aggression, with psychosis being less common. Participants on anti-dyskinetic medication had a higher motor and lower cognitive score, were older, and more prone to physical trauma. A higher motor and a lower cognitive score predicted more advanced disease. CONCLUSIONS: The unparalleled collection of clinical data and biomaterials within the EHDN's REGISTRY can expedite the search for disease modifiers (genetic and environmental) of age at onset and disease progression that could be harnessed for the development of novel treatments.
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- 2011
39. NMDA receptor gene variations as modifiers in Huntington disease: a replication study
- Author
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Saft C, Epplen JT, Wieczorek S, Landwehrmeyer GB, Roos RA, de Yebenes JG, Dose M, Tabrizi SJ, Craufurd D, REGISTRY Investigators of the European Huntington's Disease Network, Arning L. CollaboratorsBarth K, Bascuñana Garde M, Bos R, Ecker D, Handley O, Heinonen N, Held C, Laurà M, Martínez Descals A, Mestre T, Monza D, Naji J, Orth M, Padieu H, Pro Koivisto S, Rialland A, Sasinková P, Trigo Cubillo P, van Walsem M, Witjes Ané MN, Zielonka D, Bonelli R, Herranhof B, Hödl A, Kapfhammer HP, Koppitz M, Magnet M, Otti D, Painold A, Reisinge K, Brugger F, Hepperger C, Hotter A, Mahlknecht P, Nocker M, Seppi K, Wenning G, Ribaï P, Verellen Dumoulin C, Klempí?? J, Kucharik M, Roth J, Hasholt L, Hjermind L, Jakobsen O, Nielsen J, Nørremølle A, Sørensen S, Stokholm J, Hiivola H, Martikainen K, Tuuha K, Kosinski C, Probst D, Sass C, Schiefer J, Schlangen C, Werner C, Lange H, Löhle M, Storch A, Wolz A, Wolz M, Lambeck J, Zucker B, Münchau A, Stubbe L, Zittel S, Heinicke W, Longinus B, Peinemann A, Städtler M, Weindl A, Bohlen S, Reilmann R, Beister A, Hammer K, Leythaeuser G, Marquard R, Raab T, Schrenk C, Schuierer M, Wiedemann A, Eschenbach C, Landwehrmeyer B, Lezius F, Trautmann S, Cormio C, Difruscolo O, de Tommaso M, Sciruicchio V, Serpino C, Bertini E, Mechi C, Paganini M, Piacentini S, Romoli M, Sorbi S, Abbruzzese G, Di Maria E, Bandettini di Poggio Giovanna Ferrandes M, Mandich P, Marchese R, Albanese A, Di Donato S, Mariotti C, Soliveri P, Gellera C, Tomasello C, Nanetti L, Luigi D, Squitieri F, Martino T, Orobello S, Alberti S, De Gregorio F, Codella V, De Nicola N, Maglione V, Bentivoglio A, Fasano A, Frontali M, Guidubaldi A, Ialongo T, Jacopini G, Loria G, Piano C, Romano S, Soleti F, Spadaro M, Zinzi P, Heiberg A, Bjørgo K, Fannemel M, Gørvell P, Retterstøl L, Bjørnevoll I, Botne Sando S, Slawek J, Soltan W, Sitek E, Boczarska Jedynak M, Jasinska Myga B, Opala G, Szczudlik A, Rudzi??ska M, Wójcik M, Banaszkiewicz K, Krawczyk M, Marcinkowski J, Ciesielska A, Sempo??owicz J, Bryl A, Klimberg A, Janik P, Kalbarczyk A, Kwiecinski H, Jamrozik Z, Witkowski G, Ryglewicz D, Antczak J, Rakowicz M, Jachinska K, Zdzienicka E, Richter P, Zaremba J, Coelho M, Ferreira J, Rosa M, Valadas A, Gago M, Garrett C, Guerra M, Barrero F, Morales B, López Sendón Moreno J, Cubo E, Mariscal N, Sánchez J, García R, Villanueva C, Pin Quiroga P, Bascuñana M, Fatàas M, Luis López Moreno J, García Ribas G, Schwarz C, de Yébenes JG, José Saiz Artiga M, García Ruíz P, Sánchez V, Fortuna Alcaraz L, Fuensanta Noguera Perea M, Martirio Antequera Torres M, Vivancos Moreau L, Rojo Sebastian A, Aguilar Barbera M, Badenes Guia D, Casas Hernanz L, Tome Carruesco G, Suarez San Martin E, López Catena J, Bas J, Calopa M, Busquets N, Navas Arques P, Gorospe A, Legarda I, José Torres Rodríguez M, Vives B, Carrillo F, Mir P, José Lama Suarez M, Loutfi G, Stattin EL, Westman L, Wikström B, Pålhagen S, Björnsson E, Burgunder JM, Romero I, Schüpbach M, Weber Zaugg S, van Hout M, van Vugt J, Marit de Weert A, Bolwijn JJ, Dekker M, Leenders KL, van Oostrom JC, Dumas E, Jurgens C, van den Bogaard SA, Roos R, Kremer B, Verstappen CC, de Souza J, Rickards H, Wright J, Barker R, Fisher K, Goyder Goodman A, Hill S, Kershaw A, Mason S, Paterson N, Raymond L, Bisson J, Busse M, Ellison Rose L, Hunt S, Price K, Rosser A, Dunnett S, Edwards M, De Sousa P, Hughes T, McGill M, Pearson P, Porteous M, Smith P, Zeman A, Lambord N, Rankin J, Burrows L, Fletcher A, Laver F, Silva M, Thomson A, Andrews T, Dougherty A, Kavalier F, Golding C, Lashwood A, Robertson D, Ruddy D, Whaite A, Patton M, Patterson M, Bourne C, Clayton C, Dipple H, Clapton J, Grant J, Gross D, Hallam C, Middleton J, Murch A, Patino D, Bruno S, Chu E, Doherty K, Lahiri N, Novak M, Patel A, Tabrizi S, Taylor R, Warner T, Wild E, Arran N, Fullam R, Howard L, Huson S, Partington Jones L, Verstraelen N, Snowden J, Sollom A, Stopford C, Thompson J, Westmoreland L, Nemeth A, Siuda G, Bandmann O, Bradbury A, Fillingham K, Foustanos I, Tidswell K, Quarrell O., DE MICHELE, GIUSEPPE, RINALDI, CARLO, RUSSO, CINZIA, SALVATORE, ELENA, TUCCI, TECLA, Saft C, Epplen JT, Wieczorek S, Landwehrmeyer GB, Roos RA, de Yebenes JG, Dose M, Tabrizi SJ, Craufurd D, REGISTRY Investigators of the European Huntington's Disease Network, Arning L. Collaborators (348), Saft, C, Epplen, Jt, Wieczorek, S, Landwehrmeyer, Gb, Roos, Ra, de Yebenes, Jg, Dose, M, Tabrizi, Sj, Craufurd, D, Russo, CINZIA VALERIA, Arning L., CollaboratorsBarth K, Bascuñana Garde, M, Bos, R, Ecker, D, Handley, O, Heinonen, N, Held, C, Laurà, M, Martínez Descals, A, Mestre, T, Monza, D, Naji, J, Orth, M, Padieu, H, Pro Koivisto, S, Rialland, A, Sasinková, P, Trigo Cubillo, P, van Walsem, M, Witjes Ané, Mn, Zielonka, D, Bonelli, R, Herranhof, B, Hödl, A, Kapfhammer, Hp, Koppitz, M, Magnet, M, Otti, D, Painold, A, Reisinge, K, Brugger, F, Hepperger, C, Hotter, A, Mahlknecht, P, Nocker, M, Seppi, K, Wenning, G, Ribaï, P, Verellen Dumoulin, C, Klempí??, J, Kucharik, M, Roth, J, Hasholt, L, Hjermind, L, Jakobsen, O, Nielsen, J, Nørremølle, A, Sørensen, S, Stokholm, J, Hiivola, H, Martikainen, K, Tuuha, K, Kosinski, C, Probst, D, Sass, C, Schiefer, J, Schlangen, C, Werner, C, Lange, H, Löhle, M, Storch, A, Wolz, A, Wolz, M, Lambeck, J, Zucker, B, Münchau, A, Stubbe, L, Zittel, S, Heinicke, W, Longinus, B, Peinemann, A, Städtler, M, Weindl, A, Bohlen, S, Reilmann, R, Beister, A, Hammer, K, Leythaeuser, G, Marquard, R, Raab, T, Schrenk, C, Schuierer, M, Wiedemann, A, Eschenbach, C, Landwehrmeyer, B, Lezius, F, Trautmann, S, Cormio, C, Difruscolo, O, de Tommaso, M, Sciruicchio, V, Serpino, C, Bertini, E, Mechi, C, Paganini, M, Piacentini, S, Romoli, M, Sorbi, S, Abbruzzese, G, Di Maria, E, Bandettini di Poggio Giovanna Ferrandes, M, Mandich, P, Marchese, R, Albanese, A, Di Donato, S, Mariotti, C, Soliveri, P, Gellera, C, Tomasello, C, Nanetti, L, Luigi, D, DE MICHELE, Giuseppe, Rinaldi, Carlo, Russo, Cinzia, Salvatore, Elena, Tucci, Tecla, Squitieri, F, Martino, T, Orobello, S, Alberti, S, De Gregorio, F, Codella, V, De Nicola, N, Maglione, V, Bentivoglio, A, Fasano, A, Frontali, M, Guidubaldi, A, Ialongo, T, Jacopini, G, Loria, G, Piano, C, Romano, S, Soleti, F, Spadaro, M, Zinzi, P, Heiberg, A, Bjørgo, K, Fannemel, M, Gørvell, P, Retterstøl, L, Bjørnevoll, I, Botne Sando, S, Slawek, J, Soltan, W, Sitek, E, Boczarska Jedynak, M, Jasinska Myga, B, Opala, G, Szczudlik, A, Rudzi??ska, M, Wójcik, M, Banaszkiewicz, K, Krawczyk, M, Marcinkowski, J, Ciesielska, A, Sempo??owicz, J, Bryl, A, Klimberg, A, Janik, P, Kalbarczyk, A, Kwiecinski, H, Jamrozik, Z, Witkowski, G, Ryglewicz, D, Antczak, J, Rakowicz, M, Jachinska, K, Zdzienicka, E, Richter, P, Zaremba, J, Coelho, M, Ferreira, J, Rosa, M, Valadas, A, Gago, M, Garrett, C, Guerra, M, Barrero, F, Morales, B, López Sendón Moreno, J, Cubo, E, Mariscal, N, Sánchez, J, García, R, Villanueva, C, Pin Quiroga, P, Bascuñana, M, Fatàas, M, Luis López Moreno, J, García Ribas, G, Schwarz, C, de Yébenes, Jg, José Saiz Artiga, M, García Ruíz, P, Sánchez, V, Fortuna Alcaraz, L, Fuensanta Noguera Perea, M, Martirio Antequera Torres, M, Vivancos Moreau, L, Rojo Sebastian, A, Aguilar Barbera, M, Badenes Guia, D, Casas Hernanz, L, Tome Carruesco, G, Suarez San Martin, E, López Catena, J, Bas, J, Calopa, M, Busquets, N, Navas Arques, P, Gorospe, A, Legarda, I, José Torres Rodríguez, M, Vives, B, Carrillo, F, Mir, P, José Lama Suarez, M, Loutfi, G, Stattin, El, Westman, L, Wikström, B, Pålhagen, S, Björnsson, E, Burgunder, Jm, Romero, I, Schüpbach, M, Weber Zaugg, S, van Hout, M, van Vugt, J, Marit de Weert, A, Bolwijn, Jj, Dekker, M, Leenders, Kl, van Oostrom, Jc, Dumas, E, Jurgens, C, van den Bogaard, Sa, Roos, R, Kremer, B, Verstappen, Cc, de Souza, J, Rickards, H, Wright, J, Barker, R, Fisher, K, Goyder Goodman, A, Hill, S, Kershaw, A, Mason, S, Paterson, N, Raymond, L, Bisson, J, Busse, M, Ellison Rose, L, Hunt, S, Price, K, Rosser, A, Dunnett, S, Edwards, M, De Sousa, P, Hughes, T, Mcgill, M, Pearson, P, Porteous, M, Smith, P, Zeman, A, Lambord, N, Rankin, J, Burrows, L, Fletcher, A, Laver, F, Silva, M, Thomson, A, Andrews, T, Dougherty, A, Kavalier, F, Golding, C, Lashwood, A, Robertson, D, Ruddy, D, Whaite, A, Patton, M, Patterson, M, Bourne, C, Clayton, C, Dipple, H, Clapton, J, Grant, J, Gross, D, Hallam, C, Middleton, J, Murch, A, Patino, D, Bruno, S, Chu, E, Doherty, K, Lahiri, N, Novak, M, Patel, A, Tabrizi, S, Taylor, R, Warner, T, Wild, E, Arran, N, Fullam, R, Howard, L, Huson, S, Partington Jones, L, Verstraelen, N, Snowden, J, Sollom, A, Stopford, C, Thompson, J, Westmoreland, L, Nemeth, A, Siuda, G, Bandmann, O, Bradbury, A, Fillingham, K, Foustanos, I, Tidswell, K, and Quarrell, O.
- Abstract
Several candidate modifier genes which, in addition to the pathogenic CAG repeat expansion, influence the age at onset (AO) in Huntington disease (HD) have already been described. The aim of this study was to replicate association of variations in the N-methyl D-aspartate receptor subtype genes GRIN2A and GRIN2B in the "REGISTRY" cohort from the European Huntington Disease Network (EHDN). The analyses did replicate the association reported between the GRIN2A rs2650427 variation and AO in the entire cohort. Yet, when subjects were stratified by AO subtypes, we found nominally significant evidence for an association of the GRIN2A rs1969060 variation and the GRIN2B rs1806201 variation. These findings further implicate the N-methyl D-aspartate receptor subtype genes as loci containing variation associated with AO in HD.
- Published
- 2011
40. Observing Huntington's Disease: the European Huntington's Disease Network's REGISTRY
- Author
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Orth M, Handley OJ, Schwenke C, Dunnett SB, Craufurd D, Ho AK, Wild E, Tabrizi SJ, Landwehrmeyer GB, Investigators of the European Huntington's Disease N.e.t.w.o.r.k. CollaboratorsBonelli R, Herranhof B, Hödl A, Koppitz M, Magnet M, Otti D, Painold A, Reisinger K, Flamez A, Morez V, de Raedt S, Ribaï P, Verellen Dumoulin C, Vandenberghe W, van Reijen D, Hasholt L, Hjermind L, Jakobsen O, Nørremølle A, Sørensen S, Stokholm J, Peippo M, Sipponen M, Hiivola H, Martikainen K, Tuuha K, Kosinski C, Probst D, Sass C, Schiefer J, Schlangen C, Werner C, Priller J, Prüss H, Andrich J, Hoffmann R, Kraus P, Prehn C, Saft C, Salmen S, Strassburger K, Lange H, Hunger U, Löhle M, Schmidt S, Storch A, Wolz A, Wolz M, Lammbeck J, Zucker B, Hidding U, Münchau A, Stubbe L, Heinicke W, Longinus B, Möller J, Rissling I, Peinemann A, Städtler M, Weindl A, Bohlen S, Reilmann R, Beister A, Dose M, Leythaeuser G, Marquard R, Schrenk C, Schuierer M, Wiedemann A, Ecker D, Landwehrmeyer B, Lezius F, Trautmann S, Bertini E, Mechi C, Paganini M, Piacentini S, Romoli M, Sorbi S, Abbruzzese G, di Poggio M, Di Maria E, Ferrandes G, Mandich P, Marchese R, Albanese A, Di Donato S, Mariotti C, Soliveri P, Carlo R, Luigi D, Rinaldi C, Tucci T, Ciarmiello A, Martino T, Simonelli M, Squitieri F, Bentivoglio A, Fasano A, Frontali M, Guidubaldi A, Ialongo T, Jacopini G, Loria G, Piano C, Romano S, Soleti F, Spadaro M, Zinzi P, Heiberg A, van Walsem M, Bjørgo K, Fannemel M, Lars Retterstøl P, Bjørnevoll I, Sando S, Sitek E, Slawek J, Soltan W, Boczarska Jedynak M, Jasinska Myga B, Opala G, Rudzińska M, Szczudlik A, Wójcik M, Banaszkiewicz K, Bryl A, Ciesielska A, Klimberg A, Kozubski W, Marcinkowski J, Sempołowicz P, Zielonka D, Janik P, Kalbarczyk A, Kwiecinski H, Jamrozik Z, Antczak J, Witkowski G, Rakowicz M, Richter P, Ryglewicz D, Zaremba J, Zdzienicka E, Costa C, Coelho M, Ferreira J, Mestre T, Rosa M, Valadas A, Gago M, Garrett C, Guerra M, Bas J, Calopa M, Barberà M, Badenes D, Casas L, Arroyo S, Vara J, Krupinski J, López J, Obdulia M, Ferrer P, Sebastián A, Contreras S, Carruesco G, Cubo E, Mariscal N, Sánchez J, Barrero F, Morales B, López Sendón Moreno J, García RR, Quiroga P, Villanueva C, Ruíz Espiga PJ, Martínez A, Artiga MS, Sánchez V, Bascuñana M, Fatas M, Ribas G, de Yébenes J, López Moreno J, Schwarz C, Cubillo P, Arques P, Gorospe A, Legarda I, Torres Rodríguez M, Gaston I, Ramos Arroyo MA, Del Val JL, Martinez L, Burgunder JM, Romero I, Schüpbach M, Zaugg SW, van Hout MS, van Vugt JP, de Weert AM, Bolwijn JJ, Dekker M, Leenders KL, van Oostrom JC, Bos R, Dumas E, Jurgens CK, Roos RA, Witjes Ané MN, Matheson K, Rae D, Simpson S, Summers F, Ure A, Curtis A, Keylock J, Rickards H, Wright J, Barker R, Fisher K, Goodman AG, Hill S, Kershaw A, Mason S, Paterson N, Raymond L, Bisson J, Busse M, Ellison Rose L, Handley O, Dunnett S, Naji J, Price K, Rosser A, Edwards M, De Sousa P, Hughes T, McGill M, Pearson P, Porteous M, Zema A, Brockie P, Foster J, Johns N, McKenzie S, Thomas G, Burrows L, Fletcher A, Laver F, Silva M, Thomson A, Chu C, Hobson E, Jamieson S, Toscano J, Wild S, Yardumian P, Bourne C, Clayton C, Dipple H, Grant J, Gross D, Hallam C, Middleton J, Murch A, Andrews T, Dougherty A, Kavalier F, Golding C, Lashwood A, Robertson D, Ruddy D, Whaite A, Bruno S, Henley S, Novak M, O'Driscoll C, Patel A, Rosser E, Tabrizi S, Taylor R, Warner T, Arran N, Fullam R, Howard L, Huson S, Partington Jones L, Ritchie N, Snowden J, Solom A, Stopford C, Thompson J, Westmoreland L, Nemeth A, Siuda G, Bandmann O, Bradbury A, Fillingham K, Foustanos I, Quarrell O, Reynders H, Robertson L, Tidswell K., DE MICHELE, GIUSEPPE, SALVATORE, ELENA, Orth M, Handley OJ, Schwenke C, Dunnett SB, Craufurd D, Ho AK, Wild E, Tabrizi SJ, Landwehrmeyer GB, Investigators of the European Huntington's Disease Network. Collaborators (314), Orth, M, Handley, Oj, Schwenke, C, Dunnett, Sb, Craufurd, D, Ho, Ak, Wild, E, Tabrizi, Sj, Landwehrmeyer, Gb, CollaboratorsBonelli R, Investigators of the European Huntington's Disease N. e. t. w. o. r. k., Herranhof, B, Hödl, A, Koppitz, M, Magnet, M, Otti, D, Painold, A, Reisinger, K, Flamez, A, Morez, V, de Raedt, S, Ribaï, P, Verellen Dumoulin, C, Vandenberghe, W, van Reijen, D, Hasholt, L, Hjermind, L, Jakobsen, O, Nørremølle, A, Sørensen, S, Stokholm, J, Peippo, M, Sipponen, M, Hiivola, H, Martikainen, K, Tuuha, K, Kosinski, C, Probst, D, Sass, C, Schiefer, J, Schlangen, C, Werner, C, Priller, J, Prüss, H, Andrich, J, Hoffmann, R, Kraus, P, Prehn, C, Saft, C, Salmen, S, Strassburger, K, Lange, H, Hunger, U, Löhle, M, Schmidt, S, Storch, A, Wolz, A, Wolz, M, Lammbeck, J, Zucker, B, Hidding, U, Münchau, A, Stubbe, L, Heinicke, W, Longinus, B, Möller, J, Rissling, I, Peinemann, A, Städtler, M, Weindl, A, Bohlen, S, Reilmann, R, Beister, A, Dose, M, Leythaeuser, G, Marquard, R, Schrenk, C, Schuierer, M, Wiedemann, A, Ecker, D, Landwehrmeyer, B, Lezius, F, Trautmann, S, Bertini, E, Mechi, C, Paganini, M, Piacentini, S, Romoli, M, Sorbi, S, Abbruzzese, G, di Poggio, M, Di Maria, E, Ferrandes, G, Mandich, P, Marchese, R, Albanese, A, Di Donato, S, Mariotti, C, Soliveri, P, Carlo, R, Luigi, D, DE MICHELE, Giuseppe, Rinaldi, C, Salvatore, Elena, Tucci, T, Ciarmiello, A, Martino, T, Simonelli, M, Squitieri, F, Bentivoglio, A, Fasano, A, Frontali, M, Guidubaldi, A, Ialongo, T, Jacopini, G, Loria, G, Piano, C, Romano, S, Soleti, F, Spadaro, M, Zinzi, P, Heiberg, A, van Walsem, M, Bjørgo, K, Fannemel, M, Lars Retterstøl, P, Bjørnevoll, I, Sando, S, Sitek, E, Slawek, J, Soltan, W, Boczarska Jedynak, M, Jasinska Myga, B, Opala, G, Rudzińska, M, Szczudlik, A, Wójcik, M, Banaszkiewicz, K, Bryl, A, Ciesielska, A, Klimberg, A, Kozubski, W, Marcinkowski, J, Sempołowicz, P, Zielonka, D, Janik, P, Kalbarczyk, A, Kwiecinski, H, Jamrozik, Z, Antczak, J, Witkowski, G, Rakowicz, M, Richter, P, Ryglewicz, D, Zaremba, J, Zdzienicka, E, Costa, C, Coelho, M, Ferreira, J, Mestre, T, Rosa, M, Valadas, A, Gago, M, Garrett, C, Guerra, M, Bas, J, Calopa, M, Barberà, M, Badenes, D, Casas, L, Arroyo, S, Vara, J, Krupinski, J, López, J, Obdulia, M, Ferrer, P, Sebastián, A, Contreras, S, Carruesco, G, Cubo, E, Mariscal, N, Sánchez, J, Barrero, F, Morales, B, López Sendón Moreno, J, García, Rr, Quiroga, P, Villanueva, C, Ruíz Espiga, Pj, Martínez, A, Artiga, M, Sánchez, V, Bascuñana, M, Fatas, M, Ribas, G, de Yébenes, J, López Moreno, J, Schwarz, C, Cubillo, P, Arques, P, Gorospe, A, Legarda, I, Torres Rodríguez, M, Gaston, I, Ramos Arroyo, Ma, Del Val, Jl, Martinez, L, Burgunder, Jm, Romero, I, Schüpbach, M, Zaugg, Sw, van Hout, M, van Vugt, Jp, de Weert, Am, Bolwijn, Jj, Dekker, M, Leenders, Kl, van Oostrom, Jc, Bos, R, Dumas, E, Jurgens, Ck, Roos, Ra, Witjes Ané, Mn, Matheson, K, Rae, D, Simpson, S, Summers, F, Ure, A, Curtis, A, Keylock, J, Rickards, H, Wright, J, Barker, R, Fisher, K, Goodman, Ag, Hill, S, Kershaw, A, Mason, S, Paterson, N, Raymond, L, Bisson, J, Busse, M, Ellison Rose, L, Handley, O, Dunnett, S, Naji, J, Price, K, Rosser, A, Edwards, M, De Sousa, P, Hughes, T, Mcgill, M, Pearson, P, Porteous, M, Zema, A, Brockie, P, Foster, J, Johns, N, Mckenzie, S, Thomas, G, Burrows, L, Fletcher, A, Laver, F, Silva, M, Thomson, A, Chu, C, Hobson, E, Jamieson, S, Toscano, J, Wild, S, Yardumian, P, Bourne, C, Clayton, C, Dipple, H, Grant, J, Gross, D, Hallam, C, Middleton, J, Murch, A, Andrews, T, Dougherty, A, Kavalier, F, Golding, C, Lashwood, A, Robertson, D, Ruddy, D, Whaite, A, Bruno, S, Henley, S, Novak, M, O'Driscoll, C, Patel, A, Rosser, E, Tabrizi, S, Taylor, R, Warner, T, Arran, N, Fullam, R, Howard, L, Huson, S, Partington Jones, L, Ritchie, N, Snowden, J, Solom, A, Stopford, C, Thompson, J, Westmoreland, L, Nemeth, A, Siuda, G, Bandmann, O, Bradbury, A, Fillingham, K, Foustanos, I, Quarrell, O, Reynders, H, Robertson, L, and Tidswell, K.
- Published
- 2010
41. Normal and mutant HTT interact to affect clinical severity and progression in Huntington disease
- Author
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Aziz, Na, Jurgens, Ck, Landwehrmeyer, Gb, Ehdn, Rsg, van Roon Mom, Wm, van Ommen, Gj, Stijnen, T, Roos, Ra, Bachoud Levi, Ac, Bentivoglio, Ar, Biunno, I, Bonelli, R, Burgunder, Jm, Dunnett, Sb, Ferreira, J, Handley, Oj, Heiberg, A, Illmann, T, Levey, J, Nielsen, Je, Päivärinta, M, Rojo Sebastian, A, Tabrizi, Sj, Vandenberghe, W, Verellen Dumoulin, C, Zaremba, J, Uhrova, T, Wahlstrom, J, Schwenke, C, Orth, M, Wallner, M, Barth, K, Bascunana Garde, M, Ros, R, Ecker, D, Heinonen, N, Held, C, Laura, M, Martinez Descals, A, Mestre, T, Monza, D, Naji, J, Padieu, H, Pro Koivisto, S, Rialland, A, Sasinkova, P, Trigo Cubillo, P, van Walsem, M, Witjes Ane, Mn, Zielonka, D, Bonelli, Rm, Herranhof, B, Hodl, A, Koppitz, M, Magnet, M, Otti, D, Painold, A, Reisinger, K, Flamez, A, Morez, V, de Raedt, S, Ribai, P, Van Reijen, D, Hasholt, L, Hjermind, Le, Jakobsen, O, Norremolle, A, Sorensen, Sa, Stokholm, J, Peippo, M, Sipponen, M, Hiivola, H, Martikainen, K, Tuuha, K, Kosinski, Cm, Probst, D, Sass, C, Schiefer, J, Schlangen, C, Werner, Cj, Priller, J, Prüb, H, Andrich, J, Hoffmann, R, Kraus, P, Prehn, C, Saft, C, Salmen, S, Strabburger, K, Lange, H, Hunger, U, Löhle, M, Schmidt, S, Storch, A, Wolz, A, Wolz, M, Lammbeck, J, Zucker, B, Hidding, U, Münchau, A, Stubbe, L, Heinicke, W, Longinus, B, Möller, Jc, Rissling, I, Peinemann, A, Städtler, M, Weindl, A, Bohlen, S, Reilmann, R, Beuster, A, Dose, M, Leythaeuser, G, Marquard, R, Schrenk, C, Schuierer, M, Wiedemann, A, Landwehrmeyer, B, Lezius, F, Trautmann, S, Bertini, E, Mechi, C, Paganini, M, Piacentini, S, Romoli, M, Sorbi, S, Abbruzzese, Giovanni, Bandettini di Poggio, M, Ferrandes, G, Mandes, P, Marchese, R, Albanese, A, Di Donato, S, Mariotti, C, Soliveri, P, Carlo, R, Luigi, Dm, De michele, G, Rinaldi, C, Salvatore, E, Tucci, T, Ciarmiello, A, Martino, T, Simonelli, M, Squitieri, F, Fasano, A, Frontali, M, Guidubaldi, A, Lalongo, T, Jacopini, G, Loria, G, Piano, C, Romano, S, Soleti, F, Spadaro, M, Zinzi, P, van Walsem, Mr, Bjørgo, K, Fannemel, M, Gørvell, P, Retterstøl, L, Bjørnevoll, I, Sando, Sb, Sitek, Ej, Slawek, J, Soltan, W, Rudzinska, M, Szczudlik, A, Wójcik, M, Bryl, A, Ciesielska, A, Klimberg, A, Kozubski, W, Marcinkowski, J, Sempolowicz, Pj, Zielona, D, Janik, P, Kalbarczyk, A, Kwiecinski, H, Jamrozik, Z, Antczak, J, Rakowicz, M, Richter, P, Ryglewicz, D, Zdzienicka, E, Costa, C, Coelho, M, Ferreira, Jj, Rosa, Mm, Valadas, A, Gago, M, Garrett, C, Guerra, Mr, Bas, J, Calopa, M, Barberà, Ma, Badenes, D, Casas, L, Arroyo, Se, Vara, Jh, Krupinski, J, López, J, Obdulia, M, Ferrer, Pq, Sebastián, Ar, Contreras, Sr, Carruesco, Gt, Cubo, E, Mariscal, N, Sánchez, J, Barrero, Fj, Morales, B, Garcia Ramos Garcia, R, Pin Quiroga, P, Villanueva, C, Ruiz Espiga, Pj, Martinez, A, Saiz Artiga, Mj, Sánchez, V, Bascuñana, M, Fatas, M, Ribas, Gg, de Yébenes, Jg, López Moreno, Jl, Schwarz, C, Cubillo, Pt, Arques, Pn, Gorospe, A, Legarda, I, Rodriguez, Mj, Gaston, I, Ramos Arroyo, Ma, del Val, Jl, Martinez, L, Romero, I, Schüpbach, M, Zaugg, Sw, van Hout, Ms, van Vugt, Jp, de Weert, Am, Bolwijn, Jj, Dekker, M, Leenders, Kl, van Oostrom, Jc, Bos, R, Dumas, E, Witjes Ané, Mn, Matheson, K, Rae, D, Simpson, S, Summers, F, Ure, A, Curtis, A, Keylock, J, Rickards, H, Wright, J, Barker, Ra, Fisher, K, Goyder Goodman, Ao, Hill, S, Kershaw, A, Mason, S, Paterson, N, Raymond, L, Bisson, J, Busse, M, Ellison Rose, L, Handley, O, Price, K, Rosser, A, Edwards, M, De Sousa, Pa, Hughes, T, Mcgill, M, Pearson, P, Porteous, M, Zema, A, Brockie, P, Foster, J, Johns, N, Mckenzie, S, Thomas, G, Burrows, L, Fletcher, A, Laver, F, Silva, M, Thomas, A, Chu, C, Hobson, E, Jamieson, S, Toscano, J, Wild, S, Yardumian, P, Bourne, C, Clayton, C, Dipple, H, Grant, J, Gross, D, Hallam, C, Middleton, J, Murch, A, Andrews, T, Dougherty, A, Kavalier, F, Golding, C, Lashwood, A, Robertson, D, Ruddy, D, Whaite, A, Bruno, S, Henley, S, O'Driscoll, C, Patel, A, Rosser, E, Tabrizi, S, Taylor, R, Warner, T, Wild, E, Arran, N, Craufurd, D, Fullam, R, Howard, L, Huson, S, Partington Jones, L, Ritchie, N, Snowden, J, Solom, A, Stopford, C, Thompson, J, Westmoreland, L, Nemeth, Ah, Siuda, G, Bandmann, O, Bradbury, A, Fillingham, K, Foustanos, I, Quarrell, O, Reynders, H, Robertson, L, Tidswell, K., Mandich, Paola, Aziz, Na, Jurgens, Ck, Landwehrmeyer, Gb, EHDN Registry Study, Group, van Roon Mom, Wm, van Ommen, Gj, Stijnen, T, Bachoud Levi AC, Roos R. A., Bentivoglio, Ar, Biunno, I, Bonelli, R, Burgunder, Jm, Dunnett, Sb, Ferreira, J, Handley, Oj, Heiberg, A, Illmann, T, Levey, J, Nielsen, Je, Päivärinta, M, Roos, Ra, Rojo Sebastian, A, Tabrizi, Sj, Vandenberghe, W, Verellen Dumoulin, C, Zaremba, J, Uhrova, T, Wahlstrom, J, Schwenke, C, Orth, M, Wallner, M, Barth, K, Bascunana Garde, M, Ros, R, Ecker, D, Heinonen, N, Held, C, Laura, M, Martinez Descals, A, Mestre, T, Monza, D, Naji, J, Padieu, H, Pro Koivisto, S, Rialland, A, Sasinkova, P, Trigo Cubillo, P, van Walsem, M, Witjes Ane, Mn, Zielonka, D, Bonelli, Rm, Herranhof, B, Hodl, A, Koppitz, M, Magnet, M, Otti, D, Painold, A, Reisinger, K, Flamez, A, Morez, V, de Raedt, S, Ribai, P, Van Reijen, D, Hasholt, L, Hjermind, Le, Jakobsen, O, Norremolle, A, Sorensen, Sa, Stokholm, J, Peippo, M, Sipponen, M, Hiivola, H, Martikainen, K, Tuuha, K, Kosinski, Cm, Probst, D, Sass, C, Schiefer, J, Schlangen, C, Werner, Cj, Priller, J, Prüb, H, Andrich, J, Hoffmann, R, Kraus, P, Prehn, C, Saft, C, Salmen, S, Strabburger, K, Lange, H, Hunger, U, Löhle, M, Schmidt, S, Storch, A, Wolz, A, Wolz, M, Lammbeck, J, Zucker, B, Hidding, U, Münchau, A, Stubbe, L, Heinicke, W, Longinus, B, Möller, Jc, Rissling, I, Peinemann, A, Städtler, M, Weindl, A, Bohlen, S, Reilmann, R, Beuster, A, Dose, M, Leythaeuser, G, Marquard, R, Schrenk, C, Schuierer, M, Wiedemann, A, Landwehrmeyer, B, Lezius, F, Trautmann, S, Bertini, E, Mechi, C, Paganini, M, Piacentini, S, Romoli, M, Sorbi, S, Abbruzzese, G, Bandettini di Poggio, M, Ferrandes, G, Mandes, P, Marchese, R, Albanese, A, Di Donato, S, Mariotti, C, Soliveri, P, Carlo, R, Luigi, Dm, DE MICHELE, Giuseppe, Rinaldi, Carlo, Salvatore, Elena, Tucci, Tecla, Ciarmielo, A, Martino, T, Simonelli, M, Squitieri, F, Fasano, A, Frontali, M, Guidubaldi, A, Lalongo, T, Jacopini, G, Loria, G, Piano, C, Romano, S, Soleti, F, Spadaro, M, Zinzi, P, van Walsem, Mr, Bjørgo, K, Fannemel, M, Gørvell, P, Retterstøl, L, Bjørnevoll, I, Sando, Sb, Sitek, Ej, Slawek, J, Soltan, W, Rudzinska, M, Szczudlik, A, Wójcik, M, Bryl, A, Ciesielska, A, Klimberg, A, Kozubski, W, Marcinkowski, J, Sempolowicz, Pj, Zielona, D, Janik, P, Kalbarczyk, A, Kwiecinski, H, Jamrozik, Z, Antczak, J, Rakowicz, M, Richter, P, Ryglewicz, D, Zdzienicka, E, Costa, C, Coelho, M, Ferreira, Jj, Rosa, Mm, Valadas, A, Gago, M, Garrett, C, Guerra, Mr, Bas, J, Calopa, M, Barberà, Ma, Badenes, D, Casas, L, Arroyo, Se, Vara, Jh, Krupinski, J, López, J, Obdulia, M, Ferrer, Pq, Sebastián, Ar, Contreras, Sr, Carruesco, Gt, Cubo, E, Mariscal, N, Sánchez, J, Barrero, Fj, Morales, B, Garcia Ramos Garcia, R, Pin Quiroga, P, Villanueva, C, Ruiz Espiga, Pj, Martinez, A, Saiz Artiga, Mj, Sánchez, V, Bascuñana, M, Fatas, M, Ribas, Gg, de Yébenes, Jg, López Moreno, Jl, Schwarz, C, Cubillo, Pt, Arques, Pn, Gorospe, A, Legarda, I, Rodriguez, Mj, Gaston, I, Ramos Arroyo, Ma, del Val, Jl, Martinez, L, Romero, I, Schüpbach, M, Zaugg, Sw, van Hout, M, van Vugt, Jp, de Weert, Am, Bolwijn, Jj, Dekker, M, Leenders, Kl, van Oostrom, Jc, Bos, R, Dumas, E, Witjes Ané, Mn, Matheson, K, Rae, D, Simpson, S, Summers, F, Ure, A, Curtis, A, Keylock, J, Rickards, H, Wright, J, Barker, Ra, Fisher, K, Goyder Goodman, Ao, Hill, S, Kershaw, A, Mason, S, Paterson, N, Raymond, L, Bisson, J, Busse, M, Ellison Rose, L, Handley, O, Price, K, Rosser, A, Edwards, M, De Sousa, Pa, Hughes, T, Mcgill, M, Pearson, P, Porteous, M, Zema, A, Brockie, P, Foster, J, Johns, N, Mckenzie, S, Thomas, G, Burrows, L, Fletcher, A, Laver, F, Silva, M, Thomas, A, Chu, C, Hobson, E, Jamieson, S, Toscano, J, Wild, S, Yardumian, P, Bourne, C, Clayton, C, Dipple, H, Grant, J, Gross, D, Hallam, C, Middleton, J, Murch, A, Andrews, T, Dougherty, A, Kavalier, F, Golding, C, Lashwood, A, Robertson, D, Ruddy, D, Whaite, A, Bruno, S, Henley, S, O'Driscoll, C, Patel, A, Rosser, E, Tabrizi, S, Taylor, R, Warner, T, Wild, E, Arran, N, Craufurd, D, Fullam, R, Howard, L, Huson, S, Partington Jones, L, Ritchie, N, Snowden, J, Solom, A, Stopford, C, Thompson, J, Westmoreland, L, Nemeth, Ah, Siuda, G, Bandmann, O, Bradbury, A, Fillingham, K, Foustanos, I, Quarrell, O, Reynders, H, Robertson, L, Tidswell, K., Neurology, Clinical sciences, and Neuroprotection & Neuromodulation
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Adult ,Male ,medicine.medical_specialty ,Pathology ,congenital, hereditary, and neonatal diseases and abnormalities ,Huntingtin ,Adolescent ,Huntington Disease/epidemiology ,Serotonin Plasma Membrane Transport Proteins/genetics ,Severity of Illness Index ,Basal Ganglia ,Central nervous system disease ,Young Adult ,Degenerative disease ,Internal medicine ,Basal ganglia ,Severity of illness ,mental disorders ,medicine ,Humans ,Prospective Studies ,Allele ,Age of Onset ,Child ,Basal Ganglia/pathology ,Aged ,Serotonin Plasma Membrane Transport Proteins ,Middle Aged ,medicine.disease ,Magnetic Resonance Imaging ,Endocrinology ,Huntington Disease ,Mutation ,Disease Progression ,Female ,Neurology (clinical) ,Age of onset ,Trinucleotide repeat expansion ,Psychology ,Trinucleotide Repeat Expansion ,Follow-Up Studies - Abstract
OBJECTIVE: Huntington disease (HD) is an autosomal dominant neurodegenerative disorder caused by a CAG repeat expansion in the HD gene (HTT). We aimed to assess whether interaction between CAG repeat sizes in the mutant and normal allele could affect disease severity and progression. METHODS: Using linear regression and mixed-effects models, the influence of mutant and normal CAG repeat sizes interaction was assessed on 1) age at onset in 921 patients with HD, 2) clinical severity and progression in 512 of these patients with follow-up data available, and 3) basal ganglia volume on magnetic resonance images in 16 premanifest HD mutation carriers. RESULTS: Normal and mutant CAG repeat sizes interacted to influence 1) age at onset (p = 0.001), 2) severity or progression of motor, cognitive, and functional, but not behavioral, symptoms in patients with HD (all p < 0.05), and 3) in premanifest subjects, basal ganglia volumes (p < 0.05). In subjects with mutant CAG expansions in the low range, increasing size of the normal repeat correlated with more severe symptoms and pathology, whereas for those subjects with expansions in the high range, increasing size of the normal repeat correlated with less severe symptoms and pathology. CONCLUSIONS: Increasing CAG repeat size in normal HTT diminishes the association between mutant CAG repeat size and disease severity and progression in Huntington disease. The underlying mechanism may involve interaction of the polyglutamine domains of normal and mutant huntingtin (fragments) and needs further elucidation. These findings may have predictive value and are essential for the design and interpretation of future therapeutic trials.
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- 2009
42. Trasplante adrenal y enfermedad de Parkinson
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Luquin, M.R., primary, Legarda, I., additional, Guillén, J., additional, Rodríguez, M.C., additional, and Martínez-Lage, J.M., additional
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- 2016
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43. Brain 18 F-FDG PET showing striatal hypometabolism in a case of chorea-acanthocytosis
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Rubí, S., primary, Oporto, M., additional, García, A., additional, Legarda, I., additional, Picado, M.J., additional, and Peña, C., additional
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- 2016
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44. Hipometabolismo estriatal detectado por PET-FDG cerebral en un caso de corea-acantocitosis
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Rubí, S., primary, Oporto, M., additional, García, A., additional, Legarda, I., additional, Picado, M.J., additional, and Peña, C., additional
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- 2016
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- View/download PDF
45. Discrepancies in reporting the CAG repeat lengths for Huntington's disease
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Quarrell, Ow, Handley, O, O'Donovan, K, Dumoulin, C, Ramos Arroyo, M, Biunno, I, Bauer, P, Kline, M, Landwehrmeyer, Gb, Barth, K, Correia Guedes, L, Maria Finisterra, A, Bascuñana Garde, M, Bos, R, Ecker, D, Held, C, Koppers, K, Laurà, M, Martínez Descals, A, Mclean, T, Mestre, T, Minster, S, Monza, D, Townhill, J, Orth, M, Padieu, H, Paterski, L, Peppa, N, Koivisto, Sp, Rialland, A, Røren, N, Šašinková, P, Cubillo, Pt, van Walsem MR, Witjes Ané MN, Yudina, E, Zielonka, D, Zielonka, E, Zinzi, P, Bachoud Lévi AC, Bentivoglio, Ar, Bonelli, R, Burgunder, Jm, Dunnett, Sb, Ferreira, Jj, Handley, Oj, Heiberg, A, Illmann, T, Levey, J, Nielsen, Je, Päivärinta, M, Roos, Ra, Rojo Sebastián, A, Tabrizi, Sj, Vandenberghe, W, Verellen Dumoulin, C, Zaremba, J, Uhrova, T, Wahlström, J, Bonelli, Rm, Herranhof, B, Holl, A, Kapfhammer, Hp, Koppitz, M, Magnet, M, Otti, D, Painold, A, Reisinger, K, Scheibl, M, Hecht, K, Lilek, S, Müller, N, Schöggl, H, Ullah, J, Brugger, F, Hepperger, C, Hotter, A, Mahlknecht, P, Nocker, M, Seppi, K, Wenning, G, Buratti, L, Hametner, Em, Holas, C, Hussl, A, Mair, K, Poewe, W, Wolf, E, Zangerl, A, Braunwarth, Em, Ribaï, P, Flamez, A, Morez, V, de Raedt, S, Boogaerts, A, van Reijen, D, Klempíř, J, Kucharík, M, Roth, J, Hjermind, Le, Jakobsen, O, Stokholm, J, Hasholt, L, Nørremølle, A, Sørensen, Sa, Hiivola, H, Martikainen, K, Tuuha, K, Peippo, M, Sipponen, M, Kosinski, Cm, Milkereit, E, Probst, D, Sass, C, Schiefer, J, Schlangen, C, Werner, Cj, Gelderblom, H, Priller, J, Prüss, H, Spruth, Ej, Andrich, J, Hoffmann, R, Kraus, Ph, Muth, S, Prehn, C, Saft, C, Salmen, S, Stamm, C, Steiner, T, Strassburger, K, Lange, H, Friedrich, A, Hunger, U, Löhle, M, Schmidt, S, Storch, A, Wolz, A, Wolz, M, Lambeck, J, Zucker, B, Boelmans, K, Ganos, C, Hidding, U, Lewerenz, J, Münchau, A, Schmalfeld, J, Stubbe, L, Zittel, S, Heinicke, W, Longinus, B, Uni, M, Bürk, K, Möller, Jc, Rissling, I, Peinemann, A, Städtler, M, Weindl, A, Bechtel, N, Beckmann, H, Bohlen, S, Hölzner, E, Reilmann, R, Rohm, S, Rumpf, S, Schepers, S, Beister, A, Dose, M, Hammer, K, Kieni, J, Leythaeuser, G, Marquard, R, Raab, T, Richter, S, Selimbegovic Turkovic, A, Schrenk, C, Schuierer, M, Wiedemann, A, Buck, A, Connemann, J, Eschenbach, C, Landwehrmeyer, B, Lezius, F, Nepper, S, Niess, A, Süssmuth, S, Trautmann, S, Weydt, P, Cormio, C, Difruscolo, O, Sciruicchio, V, Serpino, C, de Tommaso, M, Capellari, S, Cortelli, P, Gallassi, R, Poda, R, Rizzo, G, Scaglione, C, Bertini, E, Ghelli, E, Ginestroni, A, Massaro, F, Mechi, C, Paganini, M, Piacentini, S, Pradella, S, Romoli, Am, Sorbi, S, Abbruzzese, G, Bandettini di Poggio, M, Di Maria, E, Ferrandes, G, Mandich, P, Marchese, R, Albanese, A, Di Bella, D, Di Donato, S, Gellera, C, Genitrini, S, Mariotti, C, Nanetti, L, Paridi, D, Soliveri, P, Tomasello, C, De Michele, G, Di Maio, L, Rinaldi, C, Valeria Russo, C, Salvatore, E, Tucci, T, Cannella, M, Codella, V, De Gregorio, F, De Nicola, N, Martino, T, Simonelli, M, Squitieri, F, Catalli, C, Di Giacopo, R, Fasano, A, Frontali, M, Guidubaldi, A, Ialongo, T, Jacopini, G, Loria, G, Modoni, A, Piano, C, Piccininni, C, Quaranta, D, Romano, Silvia, Soleti, F, Spadaro, M, van Hout MS, van Vugt JP, Marit de Weert, A, Bolwijn, Jj, Dekker, M, Leenders, Kl, van Oostrom JC, Dumas, Em, Jurgens, Ck, van den Bogaard SJ, 't Hart EP, Kremer, B, Verstappen, Cc, Aaserud, O, Wehus, R, Bjørgo, K, Fannemel, M, Gørvell, P, Retterstøl, L, Overland, T, Stokke, B, Bjørnevoll, I, Sando, Sb, Sitek, E, Slawek, J, Soltan, W, Boczarska Jedynak, M, Jasinska Myga, B, Opala, G, Kodowska Duda, G, Banaszkiewicz, K, Szczudlik, A, Rudziñska, M, Wójcik, M, Dec, M, Krawczyk, M, Bryl, A, Ciesielska, A, Klimberg, A, Marcinkowski, J, Sempoowicz, J, Samara, H, Janik, P, Kalbarczyk, A, Kwiecinski, H, Jamrozik, Z, Antczak, J, Jachinska, K, Rakowicz, M, Richter, P, Ryglewicz, D, Witkowski, G, Zdzienicka, E, Suek, A, Krysa, W, Guedes, L, Coelho, M, Mendes, T, Valadas, A, Cavaco, S, Damásio, J, Magalhães, M, Gago, M, Garrett, C, Guerra, Mr, Barrero, F, Morales, B, Cubo, E, Mariscal, N, Sánchez, J, Alonso Frech, F, Rabasa Perez, M, Fenollar, M, García, R, Quiroga, Pp, Vázquez Rivera, S, Villanueva, C, Bascuñana, M, Fatás Ventura, M, García Ribas, G, García de Yébenes, J, López Sendón Moreno JL, García Ruíz PJ, José Saiz Artiga, M, Sánchez, V, Noguera Perea, F, Lorenza, F, Torres, Mm, Reinante, G, Vivancos Moreau, L, Barbera, Ma, Badenes Guia, D, Hernanz, Lc, Catena, Jl, Ferrer, Pq, Tome Carruesco, G, Bas, J, Busquets, N, Calopa, M, Dalmau Elorza, M, Díez, C, López, A, Durán, S, Terol, S, Floriach Robert, M, Garzón Ruíz, B, González Casado, A, Haro Martínez, I, Viladrich, Cm, Càrdenas R, Pons i., Roca, E, Llesoy, Jr, Ruiz Idiago JM, Ruíz Vergara, M, Soriano García, S, Villa Riballo, A, Gorospe, A, Legarda, I, Arques, Pn, Torres Rodríguez MJ, Vives, B, Gaston, I, Bosca, M, Burguera, Ja, Garcia, Ac, Pålhagen, Se, Paucar, M, Svenningsson, P, Walldén Reza Soltani, T, Höglund, A, Sandström, B, Høsterey Ugander, U, Fredlund, G, Constantinescu, R, Neleborn Lingefjärd, L, Tedroff, J, Esmaeilzadeh, M, Winnberg, E, Burgunder, Y, Stebler, Y, Kaelin, A, Romero, I, Schüpbach, M, Zaugg, Sw, Jack, R, Matheson, K, Miedzybrodzka, Z, Rae, D, Simpson, S, Summers, F, Ure, A, Crooks, J, Curtis, A, de Souza, J, Rickards, H, Wright, J, Barker, Ra, Di Pietro, A, Fisher, K, Goodman, A, Hill, S, Kershaw, A, Mason, S, Paterson, N, Raymond, L, Bisson, J, Busse, M, Clenaghan, C, Ellison Rose, L, Hunt, S, Price, K, Rosser, A, Edwards, M, Hughes, T, Mcgill, M, Pearson, P, Porteous, M, Smith, P, Zeman, A, Causley, A, Harrower, T, Howcroft, D, Lambord, N, Rankin, J, Brockie, P, Foster, J, Johns, N, Mckenzie, S, Rothery, J, Thomas, G, Yates, S, Miller, J, Ritchie, S, Burrows, L, Fletcher, A, Harding, A, Laver, F, Silva, M, Thomson, A, Barnes, K, Chu, C, Hobson, E, Jamieson, S, Markova, I, Thomson, J, Toscano, J, Wild, S, Yardumian, P, Bourne, C, Clayton, C, Dipple, H, Clapton, J, Grant, J, Gross, D, Hallam, C, Middleton, J, Murch, A, Patino, D, Andrews, T, Dougherty, A, Kavalier, F, Golding, C, Lashwood, A, Robertson, D, Ruddy, D, Whaite, A, Patton, M, Peterson, M, Rose, S, Bruno, S, Chu, E, Doherty, K, Henley, S, Lahiri, N, Novak, M, Patel, A, Read, J, Rosser, E, Say, M, Tabrizi, S, Taylor, R, Warner, T, Wild, E, Arran, N, Callaghan, J, Craufurd, D, Fullam, R, Howard, L, Huson, S, Oughton, E, Partington Jones, L, Snowden, J, Sollom, A, Stopford, C, Thompson, J, Trender Gerhad, I, Verstraelen, N, Westmoreland, L, Nemeth, Ah, Suida, G, Harrison, D, Hughes, M, Parkinson, A, Soltysiak, B, Bandmann, O, Bradbury, A, Gill, P, Fairtlough, H, Fillingham, K, Foustanos, I, Tidswell, K., Kaelin, André, Quarrel O.W., Handley O., O'Donovan K., Dumoulin C., Ramos-Arroyo M., Biunno I., Bauer P., Kline M., Capellari S., Cortelli P., Gallassi R., Landwehrmeyer G.B., European Huntington's Disease Network., Neurology, Clinical sciences, Neuroprotection & Neuromodulation, Quarrell, Ow, Handley, O, O'Donovan, K, Dumoulin, C, Ramos Arroyo, M, Biunno, I, Bauer, P, Kline, M, Landwehrmeyer, Gb, European Huntington's Disease, Network, European Huntington's Disease, N. e. t. w. o. r. k., Rinaldi, Carlo, Salvatore, Elena, and DE MICHELE, Giuseppe
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medicine.medical_specialty ,Concordance ,International Cooperation ,Diagnostic Errors/statistics & numerical data ,Nerve Tissue Proteins ,Guidelines as Topic ,Bioinformatics ,Sensitivity and Specificity ,Article ,Huntingtin Gene ,Huntington's disease ,Trinucleotide Repeats ,Internal medicine ,External quality assessment ,Genetics ,medicine ,Humans ,Nerve Tissue Proteins/genetics ,Diagnostic laboratory ,Genetic Testing ,Genetic Testing/methods/standards ,Allele ,Diagnostic Errors ,standard reference material ,Genetics (clinical) ,Alleles ,Huntingtin Protein ,ddc:618 ,business.industry ,international cooperation ,Nuclear Proteins ,Reproducibility of Results ,Reference Standards ,medicine.disease ,CAG repeat length ,Nuclear Proteins/genetics ,Huntington Disease ,Huntington Disease/diagnosis ,Mutation ,Medical genetics ,reproducibility of results ,mutation ,business ,Trinucleotide repeat expansion ,Huntington Disease/diagnosis/genetics ,Genetic Testing/methods - Abstract
Huntington's disease results from a CAG repeat expansion within the Huntingtin gene; this is measured routinely in diagnostic laboratories. The European Huntington's Disease Network REGISTRY project centrally measures CAG repeat lengths on fresh samples; these were compared with the original results from 121 laboratories across 15 countries. We report on 1326 duplicate results; a discrepancy in reporting the upper allele occurred in 51% of cases, this reduced to 13.3% and 9.7% when we applied acceptable measurement errors proposed by the American College of Medical Genetics and the Draft European Best Practice Guidelines, respectively. Duplicate results were available for 1250 lower alleles; discrepancies occurred in 40% of cases. Clinically significant discrepancies occurred in 4.0% of cases with a potential unexplained misdiagnosis rate of 0.3%. There was considerable variation in the discrepancy rate among 10 of the countries participating in this study. Out of 1326 samples, 348 were re-analysed by an accredited diagnostic laboratory, based in Germany, with concordance rates of 93% and 94% for the upper and lower alleles, respectively. This became 100% if the acceptable measurement errors were applied. The central laboratory correctly reported allele sizes for six standard reference samples, blind to the known result. Our study differs from external quality assessment (EQA) schemes in that these are duplicate results obtained from a large sample of patients across the whole diagnostic range. We strongly recommend that laboratories state an error rate for their measurement on the report, participate in EQA schemes and use reference materials regularly to adjust their own internal standards.
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- 2012
46. NMDA receptor gene variations as modifiers in Huntington disease
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Saft, C, Epplen, Jt, Wieczorek, S, Landwehrmeyer, Gb, Roos, Ra, de Yebenes JG, Dose, M, Tabrizi, Sj, Craufurd, D, Arning, L, Barth, K, Bascuñana Garde, M, Bos, R, Ecker, D, Handley, O, Heinonen, N, Held, C, Laurà, M, Martínez Descals, A, Mestre, T, Monza, D, Naji, J, Orth, M, Padieu, H, Pro Koivisto, S, Rialland, A, Sasinková, P, Trigo Cubillo, P, van Walsem, M, Witjes Ané MN, Zielonka, D, Bonelli, R, Herranhof, B, Hödl, A, Kapfhammer, Hp, Koppitz, M, Magnet, M, Otti, D, Painold, A, Reisinge, K, Brugger, F, Hepperger, C, Hotter, A, Mahlknecht, P, Nocker, M, Seppi, K, Wenning, G, Ribaï, P, Verellen Dumoulin, C, Klempíř, J, Kucharik, M, Roth, J, Hasholt, L, Hjermind, L, Jakobsen, O, Nielsen, J, Nørremølle, A, Sørensen, S, Stokholm, J, Hiivola, H, Martikainen, K, Tuuha, K, Kosinski, C, Probst, D, Sass, C, Schiefer, J, Schlangen, C, Werner, C, Lange, H, Löhle, M, Storch, A, Wolz, A, Wolz, M, Lambeck, J, Zucker, B, Münchau, A, Stubbe, L, Zittel, S, Heinicke, W, Longinus, B, Peinemann, A, Städtler, M, Weindl, A, Bohlen, S, Reilmann, R, Beister, A, Hammer, K, Leythaeuser, G, Marquard, R, Raab, T, Schrenk, C, Schuierer, M, Wiedemann, A, Eschenbach, C, Landwehrmeyer, B, Lezius, F, Trautmann, S, Cormio, C, Difruscolo, O, de Tommaso, M, Sciruicchio, V, Serpino, C, Bertini, E, Mechi, C, Paganini, M, Piacentini, S, Romoli, M, Sorbi, S, Abbruzzese, G, Di Maria, E, Bandettini di Poggio Giovanna Ferrandes, M, Mandich, P, Marchese, R, Albanese, A, Di Donato, S, Mariotti, C, Soliveri, P, Gellera, C, Tomasello, C, Nanetti, L, Luigi, D, De Michele, G, Rinaldi, C, Russo, C, Salvatore, E, Tucci, T, Squitieri, F, Martino, T, Orobello, S, Alberti, S, De Gregorio, F, Codella, V, De Nicola, N, Maglione, V, Bentivoglio, A, Fasano, A, Frontali, M, Guidubaldi, A, Ialongo, T, Jacopini, G, Loria, G, Piano, C, Romano, Silvia, Soleti, F, Spadaro, M, Zinzi, P, Heiberg, A, Bjørgo, K, Fannemel, M, Gørvell, P, Retterstøl, L, Bjørnevoll, I, Botne Sando, S, Slawek, J, Soltan, W, Sitek, E, Boczarska Jedynak, M, Jasinska Myga, B, Opala, G, Szczudlik, A, Rudzińska, M, Wójcik, M, Banaszkiewicz, K, Krawczyk, M, Marcinkowski, J, Ciesielska, A, Sempołowicz, J, Bryl, A, Klimberg, A, Janik, P, Kalbarczyk, A, Kwiecinski, H, Jamrozik, Z, Witkowski, G, Ryglewicz, D, Antczak, J, Rakowicz, M, Jachinska, K, Zdzienicka, E, Richter, P, Zaremba, J, Coelho, M, Ferreira, J, Rosa, M, Valadas, A, Gago, M, Garrett, C, Guerra, M, Barrero, F, Morales, B, López Sendón Moreno, J, Cubo, E, Mariscal, N, Sánchez, J, García, R, Villanueva, C, Pin Quiroga, P, Bascuñana, M, Fatàas, M, Luis López Moreno, J, García Ribas, G, Schwarz, C, de Yébenes JG, José Saiz Artiga, M, García Ruíz, P, Sánchez, V, Fortuna Alcaraz, L, Fuensanta Noguera Perea, M, Martirio Antequera Torres, M, Vivancos Moreau, L, Rojo Sebastian, A, Aguilar Barbera, M, Badenes Guia, D, Casas Hernanz, L, Tome Carruesco, G, Suarez San Martin, E, López Catena, J, Bas, J, Calopa, M, Busquets, N, Navas Arques, P, Gorospe, A, Legarda, I, José Torres Rodríguez, M, Vives, B, Carrillo, F, Mir, P, José Lama Suarez, M, Loutfi, G, Stattin, El, Westman, L, Wikström, B, Pålhagen, S, Björnsson, E, Burgunder, Jm, Romero, I, Schüpbach, M, Weber Zaugg, S, van Hout, M, van Vugt, J, Marit de Weert, A, Bolwijn, Jj, Dekker, M, Leenders, Kl, van Oostrom JC, Dumas, E, Jurgens, C, van den Bogaard SA, Roos, R, Kremer, B, Verstappen, Cc, de Souza, J, Rickards, H, Wright, J, Barker, R, Fisher, K, Goyder Goodman, A, Hill, S, Kershaw, A, Mason, S, Paterson, N, Raymond, L, Bisson, J, Busse, M, Ellison Rose, L, Hunt, S, Price, K, Rosser, A, Dunnett, S, Edwards, M, De Sousa, P, Hughes, T, Mcgill, M, Pearson, P, Porteous, M, Smith, P, Zeman, A, Lambord, N, Rankin, J, Burrows, L, Fletcher, A, Laver, F, Silva, M, Thomson, A, Andrews, T, Dougherty, A, Kavalier, F, Golding, C, Lashwood, A, Robertson, D, Ruddy, D, Whaite, A, Patton, M, Patterson, M, Bourne, C, Clayton, C, Dipple, H, Clapton, J, Grant, J, Gross, D, Hallam, C, Middleton, J, Murch, A, Patino, D, Bruno, S, Chu, E, Doherty, K, Lahiri, N, Novak, M, Patel, A, Tabrizi, S, Taylor, R, Warner, T, Wild, E, Arran, N, Fullam, R, Howard, L, Huson, S, Partington Jones, L, Verstraelen, N, Snowden, J, Sollom, A, Stopford, C, Thompson, J, Westmoreland, L, Nemeth, A, Siuda, G, Bandmann, O, Bradbury, A, Fillingham, K, Foustanos, I, Tidswell, K, and Quarrell, O.
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Genetics ,biology ,business.industry ,Medicine (miscellaneous) ,Disease ,Bioinformatics ,Huntington Disease ,Cohort ,biology.protein ,Medicine ,GRIN2A ,NMDA receptor ,GRIN2B ,business ,Trinucleotide repeat expansion ,Gene ,Modifier Genes - Abstract
Several candidate modifier genes which, in addition to the pathogenic CAG repeat expansion, influence the age at onset (AO) in Huntington disease (HD) have already been described. The aim of this study was to replicate association of variations in the N-methyl D-aspartate receptor subtype genes GRIN2A and GRIN2B in the "REGISTRY" cohort from the European Huntington Disease Network (EHDN). The analyses did replicate the association reported between the GRIN2A rs2650427 variation and AO in the entire cohort. Yet, when subjects were stratified by AO subtypes, we found nominally significant evidence for an association of the GRIN2A rs1969060 variation and the GRIN2B rs1806201 variation. These findings further implicate the N-methyl D-aspartate receptor subtype genes as loci containing variation associated with AO in HD.
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- 2011
47. Brain 18F-FDG PET showing striatal hypometabolism in a case of chorea-acanthocytosis
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Rubí, S., Oporto, M., García, A., Legarda, I., Picado, M.J., and Peña, C.
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- 2016
- Full Text
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48. Focal abdominal wall hernias and pre-axial toe polydactyly define distinct phenotypes and etiologies for infants of diabetic mothers and the VATER Association
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Shapiro, L R, primary, Duncan, P A, additional, Beneck, D, additional, Goldin, B F, additional, Legarda, I, additional, and Kronn, D, additional
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- 2000
- Full Text
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49. Levodopa-responsive parkinsonism associated with basal ganglia calcification and primary hypoparathyroidism
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Vaamonde, J., primary, Legarda, I., additional, Jimenez-Jimenez, J., additional, Zubieta, J. L., additional, and Obeso, J. A., additional
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- 1993
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50. Acetazolamide Improves Action Myoclonus in Ramsay Hunt Syndrome
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Vaamonde, J., primary, Legarda, I., additional, Jimenez-Jimenez, J., additional, and Obeso, J. A., additional
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- 1992
- Full Text
- View/download PDF
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