30 results on '"Rouco Axpe I"'
Search Results
2. Guía práctica de evaluación de pacientes con ataxias y paraparesias espásticas hereditarias en consulta
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Arpa Gutiérrez, F.J., Abenza Abildúa, M.J., Rouco Axpe, I., Adarmes Gómez, A.D., and Serrano Munuera, C.
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- 2024
- Full Text
- View/download PDF
Catalog
3. Epidemiology of ataxia and hereditary spastic paraplegia in Spain: A cross-sectional study
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Ortega Suero, G., Abenza Abildúa, M.J., Serrano Munuera, C., Rouco Axpe, I., Arpa Gutiérrez, F.J., Adarmes Gómez, A.D., Rodríguez de Rivera, F.J., Quintans Castro, B., Posada Rodríguez, I., Vadillo Bermejo, A., Domingo Santos, Á., Blanco Vicente, E., Infante Ceberio, I., Pardo Fernández, J., Costa Arpín, E., Painous Martí, C., Muñoz García, J.E., Mir Rivera, P., Montón Álvarez, F., Bataller Alberola, L., Gascón Bayarri, J., Casasnovas Pons, C., Vélez Santamaría, V., López de Munain, A., Fernández-Eulate, G., Gazulla Abío, J., Sanz Gallego, I., Rojas Bartolomé, L., Ayo Martín, Ó., Segura Martín, T., González Mingot, C., Baraldés Rovira, M., Sivera Mascaró, R., Cubo Delgado, E., Echavarría Íñiguez, A., Vázquez Sánchez, F., Bártulos Iglesias, M., Casadevall Codina, M.T., Martínez Fernández, E.M., Labandeira Guerra, C., Alemany Perna, B., Carvajal Hernández, A., Fernández Moreno, C., Palacín Larroy, M., Caballol Pons, N., Ávila Rivera, A., Navacerrada Barrero, F.J., Lobato Rodríguez, R., and Sobrido Gómez, M.J. more...
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- 2023
- Full Text
- View/download PDF
4. Mapa epidemiológico transversal de las ataxias y paraparesias espásticas hereditarias en España
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Ortega Suero, G., Abenza Abildúa, M.J., Serrano Munuera, C., Rouco Axpe, I., Arpa Gutiérrez, F.J., Adarmes Gómez, A.D., Rodríguez de Rivera, F.J., Quintans Castro, B., Posada Rodríguez, I., Vadillo Bermejo, A., Domingo Santos, Á., Blanco Vicente, E., Infante Ceberio, I., Pardo Fernández, J., Costa Arpín, E., Painous Martí, C., Muñoz, J.E., Mir Rivera, P., Montón Álvarez, F., Bataller Alberola, L., Gascón Bayarri, J., Casasnovas Pons, C., Vélez Santamaría, V., López de Munain, A., Fernández-Eulate, G., Gazulla Abío, J., Sanz Gallego, I., Rojas Bartolomé, L., Ayo Martín, Ó., Segura Martín, T., González Mingot, C., Baraldés Rovira, M., Sivera Mascaró, R., Cubo Delgado, E., Echavarría Íñiguez, A., Vázquez Sánchez, F., Bártulos Iglesias, M., Casadevall Codina, M.T., Martínez Fernández, E.M., Labandeira Guerra, C., Alemany Perna, B., Carvajal Hernández, A., Fernández Moreno, C., Palacín Larroy, M., Caballol Pons, N., Ávila Rivera, A., Navacerrada Barrero, F.J., Lobato Rodríguez, R., and Sobrido Gómez, M.J. more...
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- 2023
- Full Text
- View/download PDF
5. Practical recommendations for the clinical evaluation of patients with hereditary ataxia and hereditary spastic paraplegia
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Arpa Gutiérrez, F.J., primary, Abenza Abildúa, M.J., additional, Rouco Axpe, I., additional, Adarmes Gómez, A.D., additional, and Serrano Munuera, C., additional
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- 2022
- Full Text
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6. 20777. ¿CÓMO DETECTAR EL SÍNDROME COGNITIVOAFECTIVO CEREBELOSO?: VALIDACIÓN DE LA VERSIÓN ESPAÑOLA DE LA SCHMAHMANN'S SCALE
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Serrano Munuera, M., Martínez-Regueiro, R., Martínez Fernández, E., Alemany-Perna, B., López Domínguez, D., Rojas-Bartolomé, L., Adarmes-Gómez, A., Pérez-Torre, P., Abenza-Abildúa, M., Rouco Axpe, I., Feria-Vilar, I., Pérez-Pérez, J., Schmahmann, J., and García-Sánchez, C. more...
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- 2024
- Full Text
- View/download PDF
7. Guía práctica de evaluación de pacientes con ataxias y paraparesias espásticas hereditarias en consulta
- Author
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Arpa Gutiérrez, F.J., primary, Abenza Abildúa, M.J., additional, Rouco Axpe, I., additional, Adarmes Gómez, A.D., additional, and Serrano Munuera, C., additional
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- 2022
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8. Hereditary cerebellar ataxias and hereditary spastic paraplegias: experience of disease from the patient’s perspective
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Rouco Axpe, I., Loyola Irulegui, A., Ruiz de la Peña, B., and Izarzugaza Iturrizar, E.
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- 2021
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9. Las Ataxias y Paraparesias Espásticas Hereditarias: experiencia en torno a la enfermedad desde la perspectiva del paciente
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Rouco Axpe, I., Loyola Irulegui, A., Benito de la Peña, R., and Izarzugaza Iturrizar, E.
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- 2021
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10. Rapid cognitive decline associated with anti-glutamic acid decarboxylase antibodies: a case report
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Martin Prieto, J., primary, Rouco Axpe, I., additional, Moreno Estébanez, A., additional, and Rodríguez-Antigüedad Zarrantz, A., additional
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- 2021
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11. Glioblastoma with an unusual presentation: a diagnostic challenge
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Rouco Axpe, I., Mateos Goñi, B., Zaldumbide Dueñas, L., and Fernández-Lomana Idiondo, E.
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- 2021
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12. Dificultad en el diagnóstico de un glioblastoma de presentación inhabitual
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Rouco Axpe, I., Mateos Goñi, B., Zaldumbide Dueñas, L., and Fernández-Lomana Idiondo, E.
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- 2021
- Full Text
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13. Epidemiology of ataxia and hereditary spastic paraplegia in Spain: a cross-sectional study
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Ortega Suero, G., Abenza Abildúa, M. J., Serrano Munuera, C., Rouco Axpe, I., Arpa Gutiérrez, F. J., Adarmes Gómez, A. D., Mir Rivera, Pablo, Sobrido Gómez, M. J., and Universidad de Sevilla. Departamento de Medicina more...
- Subjects
Ataxias ,Paraparesias espásticas hereditarias ,Genetic map ,Epidemiology ,Hereditary spastic paraplegia ,Genetics ,Mapa genético ,Epidemiología ,Ataxia ,Genética - Abstract
Introducción Las ataxias (AT) y paraparesias espásticas hereditarias (PEH) son síndromes neurodegenerativos raros. Nos proponemos conocer la prevalencia de las AT y PEH en España en 2019. Pacientes y métodos Estudio transversal, multicéntrico, descriptivo y retrospectivo de los pacientes con AT y PEH, desde marzo de 2018 a diciembre de 2019 en toda España. Resultados Se obtuvo información de 1.809 pacientes procedentes de 11 Comunidades Autónomas, de 47 neurólogos o genetistas. Edad media: 53,64 años ± 20,51 desviación estándar (DE); 920 varones (50,8%), 889 mujeres (49,2%). En 920 pacientes (47,6%) no se conoce el defecto genético. Por patologías, 1.371 pacientes (70,9%) diagnosticados de AT, 562 diagnosticados de PEH (29,1%). La prevalencia estimada de AT es 5,48/100.000 habitantes, y la de PEH es 2,24 casos/100.000 habitantes. La AT dominante más frecuente es la SCA3. La AT recesiva más frecuente es la ataxia de Friedreich (FRDA). La PEH dominante más frecuente es la SPG4, y la PEH recesiva más frecuente es la SPG7. Conclusiones La prevalencia estimada de AT y PEH en nuestra serie es de 7,73 casos/100.000 habitantes. Estas frecuencias son similares a las del resto del mundo. En el 47,6% no se ha conseguido un diagnóstico genético. A pesar de las limitaciones, este estudio puede contribuir a estimar los recursos, visibilizar estas enfermedades, detectar las mutaciones más frecuentes para hacer los screenings por comunidades, y favorecer los ensayos clínicos. Introduction Ataxia and hereditary spastic paraplegia are rare neurodegenerative syndromes. We aimed to determine the prevalence of these disorders in Spain in 2019. Patients and methods We conducted a cross-sectional, multicentre, retrospective, descriptive study of patients with ataxia and hereditary spastic paraplegia in Spain between March 2018 and December 2019. Results We gathered data from a total of 1.809 patients from 11 autonomous communities, provided by 47 neurologists or geneticists. Mean (SD) age in our sample was 53.64 (20.51) years; 920 patients were men (50.8%) and 889 were women (49.2%). The genetic defect was unidentified in 920 patients (47.6%). A total of 1371 patients (70.9%) had ataxia and 562 (29.1%) had hereditary spastic paraplegia. Prevalence rates for ataxia and hereditary spastic paraplegia were estimated at 5.48 and 2.24 cases per 100 000 population, respectively. The most frequent type of dominant ataxia in our sample was SCA3, and the most frequent recessive ataxia was Friedreich ataxia. The most frequent type of dominant hereditary spastic paraplegia in our sample was SPG4, and the most frequent recessive type was SPG7. Conclusions In our sample, the estimated prevalence of ataxia and hereditary spastic paraplegia was 7.73 cases per 100 000 population. This rate is similar to those reported for other countries. Genetic diagnosis was not available in 47.6% of cases. Despite these limitations, our study provides useful data for estimating the necessary healthcare resources for these patients, raising awareness of these diseases, determining the most frequent causal mutations for local screening programmes, and promoting the development of clinical trials. more...
- Published
- 2021
14. Demencia rápidamente progresiva asociada a anticuerpos anti-carboxilasa del ácido glutámico: a propósito de un caso
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Martin Prieto, J., primary, Rouco Axpe, I., additional, Moreno Estébanez, A., additional, and Rodríguez-Antigüedad Zarrantz, A., additional
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- 2021
- Full Text
- View/download PDF
15. Epidemiology of ataxia and hereditary spastic paraplegia in Spain: a cross-sectional study
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Ortega Suero G, Abenza Abildúa MJ, Serrano Munuera C, Rouco Axpe I, Arpa Gutiérrez FJ, Adarmes Gómez AD, Rodríguez de Rivera FJ, Quintans Castro B, Posada Rodríguez I, Vadillo Bermejo A, Domingo Santos Á, Blanco Vicente E, Infante Ceberio I, Pardo Fernández J, Costa Arpín E, Painous Martí C, Muñoz JE, Mir Rivera P, Montón Álvarez F, Bataller Alberola L, Gascón Bayarri J, Casasnovas Pons C, Vélez Santamaría V, López Munain A, Fernández García Eulate G, Gazulla Abío J, Sanz Gallego I, Rojas Bartolomé L, Ayo Martín Ó, Segura Martín T, González Mingot C, Baraldés Rovira M, Sivera Mascaró R, Cubo Delgado E, Echevarría Íñiguez A, Vázquez Sánchez F, Bártulos Iglesias M, Casadevall Codina MT, Martínez Fernández EM, Labandeira Guerra C, Alemany Perna B, Carvajal Hernández A, Fernández Moreno C, Palacín Larroy M, Caballol Pons N, Ávila Rivera A, Navacerrada Barrero FJ, Lobato Rodríguez R, and Sobrido Gómez MJ more...
- Subjects
Ataxias ,Paraparesias espásticas hereditarias ,congenital, hereditary, and neonatal diseases and abnormalities ,Genetic map ,Epidemiology ,Materials Chemistry ,Genetics ,Hereditary spastic paraplegia ,Epidemiología ,Mapa genético ,Ataxia ,Genética ,nervous system diseases - Abstract
INTRODUCTION: Ataxia and hereditary spastic paraplegia are rare neurodegenerative syndromes. We aimed to determine the prevalence of these disorders in Spain in 2019. PATIENTS AND METHODS: We conducted a cross-sectional, multicentre, retrospective, descriptive study of patients with ataxia and hereditary spastic paraplegia in Spain between March 2018 and December 2019. RESULTS: We gathered data from a total of 1.809 patients from 11 autonomous communities, provided by 47 neurologists or geneticists. Mean (SD) age in our sample was 53.64 (20.51) years; 920 patients were men (50.8%) and 889 were women (49.2%). The genetic defect was unidentified in 920 patients (47.6%). A total of 1371 patients (70.9%) had ataxia and 562 (29.1%) had hereditary spastic paraplegia. Prevalence rates for ataxia and hereditary spastic paraplegia were estimated at 5.48 and 2.24 cases per 100 000 population, respectively. The most frequent type of dominant ataxia in our sample was SCA3, and the most frequent recessive ataxia was Friedreich ataxia. The most frequent type of dominant hereditary spastic paraplegia in our sample was SPG4, and the most frequent recessive type was SPG7. CONCLUSIONS: In our sample, the estimated prevalence of ataxia and hereditary spastic paraplegia was 7.73 cases per 100 000 population. This rate is similar to those reported for other countries. Genetic diagnosis was not available in 47.6% of cases. Despite these limitations, our study provides useful data for estimating the necessary healthcare resources for these patients, raising awareness of these diseases, determining the most frequent causal mutations for local screening programmes, and promoting the development of clinical trials. more...
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- 2020
16. Mapa epidemiológico transversal de las ataxias y paraparesias espásticas hereditarias en España
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Universidad de Sevilla. Departamento de Medicina, Ortega Suero, G., Abenza Abildúa, M. J., Serrano Munuera, C., Rouco Axpe, I., Arpa Gutiérrez, F. J., Adarmes Gómez, A. D., Mir Rivera, Pablo, Sobrido Gómez, M. J., Universidad de Sevilla. Departamento de Medicina, Ortega Suero, G., Abenza Abildúa, M. J., Serrano Munuera, C., Rouco Axpe, I., Arpa Gutiérrez, F. J., Adarmes Gómez, A. D., Mir Rivera, Pablo, and Sobrido Gómez, M. J. more...
- Abstract
Introducción Las ataxias (AT) y paraparesias espásticas hereditarias (PEH) son síndromes neurodegenerativos raros. Nos proponemos conocer la prevalencia de las AT y PEH en España en 2019. Pacientes y métodos Estudio transversal, multicéntrico, descriptivo y retrospectivo de los pacientes con AT y PEH, desde marzo de 2018 a diciembre de 2019 en toda España. Resultados Se obtuvo información de 1.809 pacientes procedentes de 11 Comunidades Autónomas, de 47 neurólogos o genetistas. Edad media: 53,64 años ± 20,51 desviación estándar (DE); 920 varones (50,8%), 889 mujeres (49,2%). En 920 pacientes (47,6%) no se conoce el defecto genético. Por patologías, 1.371 pacientes (70,9%) diagnosticados de AT, 562 diagnosticados de PEH (29,1%). La prevalencia estimada de AT es 5,48/100.000 habitantes, y la de PEH es 2,24 casos/100.000 habitantes. La AT dominante más frecuente es la SCA3. La AT recesiva más frecuente es la ataxia de Friedreich (FRDA). La PEH dominante más frecuente es la SPG4, y la PEH recesiva más frecuente es la SPG7. Conclusiones La prevalencia estimada de AT y PEH en nuestra serie es de 7,73 casos/100.000 habitantes. Estas frecuencias son similares a las del resto del mundo. En el 47,6% no se ha conseguido un diagnóstico genético. A pesar de las limitaciones, este estudio puede contribuir a estimar los recursos, visibilizar estas enfermedades, detectar las mutaciones más frecuentes para hacer los screenings por comunidades, y favorecer los ensayos clínicos., Introduction Ataxia and hereditary spastic paraplegia are rare neurodegenerative syndromes. We aimed to determine the prevalence of these disorders in Spain in 2019. Patients and methods We conducted a cross-sectional, multicentre, retrospective, descriptive study of patients with ataxia and hereditary spastic paraplegia in Spain between March 2018 and December 2019. Results We gathered data from a total of 1.809 patients from 11 autonomous communities, provided by 47 neurologists or geneticists. Mean (SD) age in our sample was 53.64 (20.51) years; 920 patients were men (50.8%) and 889 were women (49.2%). The genetic defect was unidentified in 920 patients (47.6%). A total of 1371 patients (70.9%) had ataxia and 562 (29.1%) had hereditary spastic paraplegia. Prevalence rates for ataxia and hereditary spastic paraplegia were estimated at 5.48 and 2.24 cases per 100 000 population, respectively. The most frequent type of dominant ataxia in our sample was SCA3, and the most frequent recessive ataxia was Friedreich ataxia. The most frequent type of dominant hereditary spastic paraplegia in our sample was SPG4, and the most frequent recessive type was SPG7. Conclusions In our sample, the estimated prevalence of ataxia and hereditary spastic paraplegia was 7.73 cases per 100 000 population. This rate is similar to those reported for other countries. Genetic diagnosis was not available in 47.6% of cases. Despite these limitations, our study provides useful data for estimating the necessary healthcare resources for these patients, raising awareness of these diseases, determining the most frequent causal mutations for local screening programmes, and promoting the development of clinical trials. more...
- Published
- 2021
17. Enfermedades no degenerativas de la médulla
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Rouco Axpe, I.
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- 2007
- Full Text
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18. Rapid cognitive decline associated with anti-glutamic acid decarboxylase antibodies: a case report
- Author
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Martin Prieto, J., Rouco Axpe, I., Moreno Estébanez, A., and Rodríguez-Antigüedad Zarrantz, A.
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- 2022
- Full Text
- View/download PDF
19. Demencia rápidamente progresiva asociada a anticuerpos anti-carboxilasa del ácido glutámico: a propósito de un caso
- Author
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Martin Prieto, J., Rouco Axpe, I., Moreno Estébanez, A., and Rodríguez-Antigüedad Zarrantz, A.
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- 2022
- Full Text
- View/download PDF
20. Patología cerebrovascular en un hospital terciario. Situación actual y puntos de mejora
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Juan J. Zarranz, Fernando Velasco, Juan Carlos Gómez-Esteban, T. Pérez-Concha, Lezcano-García E, Rouco-Axpe I, Fernández C, Iker Bilbao, Maria Victoria Fernandez, Iñigo Garamendi, Forcadas-Berdusán Mi, Mendibe-Bilbao Mm, Larracoechea-Jausoro J, Gutiérrez G, Barcena-Llona J, Garibi-Undabarrena Jm, Jose Losada, and Sabas Boyero more...
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Neurology (clinical) ,General Medicine - Abstract
Introduccion. La atencion a los pacientes con enfermedad cerebrovascular consume gran cantidad de recursos que se necesitan usar optimamente. El objetivo del presente estudio es analizar la situacion de la atencion a los ictus en un hospital terciario. Pacientes y metodos. Se analizaron retrospectivamente todos los ingresos con diagnostico de ictus durante el ano 2003. Se registraron la duracion de la estancia, la realizacion de tomografia axial computarizada en Urgencias, procedencia, ingresos previos en el ultimo ano, presencia de factores de riesgo vascular, subtipo de ictus, complicaciones y mortalidad durante el ingreso y destino al alta. Resultados. Ingresaron un total de 936 pacientes con diagnostico de ictus. El 80,22% correspondian a ictus isquemicos (27,14% lacunares, 18,57% accidente isquemico transitorio, 10,25% cardioembolicos, 15,44% aterotromboticos, 8,44% clasificacion incierta, 0,24% causa inhabitual) y el 19,78% a formas hemorragicas (13,99% hematomas, 5,79% hemorragia subaracnoidea). La mortalidad intrahospitalaria fue del 5,3%, el 11% presentaron algun tipo de complicacion durante el ingreso y la estancia media fue de 10,4 dias, muy superior en aquellos pacientes con destino al alta a un centro de media-larga estancia (17,5 dias). Por subtipo de ictus se aprecia una menor incidencia de ictus cardioembolicos y aterotromboticos que en otras series. Al incluir pacientes neuroquirurgicos hay, en cambio, un aumento de hemorragias cerebrales. Conclusiones. La morbimortalidad intrahospitalaria y la estancia media de nuestra serie son acordes a las de los centros de similares caracteristicas. La mejor coordinacion con centros de media-larga estancia junto con la presencia de neurologos de guardia y/o la creacion de unidades de ictus, sin duda, podrian mejorar estos resultados. more...
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- 2005
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21. Mapa epidemiológico transversal de las ataxias y paraparesias espásticas hereditarias en España
- Author
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Ortega Suero, G., Abenza Abildúa, M.J., Serrano Munuera, C., Rouco Axpe, I., Arpa Gutiérrez, F.J., Adarmes Gómez, A.D., Rodríguez Rivera, F.J., Quintans Castro, B., Posada Rodríguez, I., Vadillo Bermejo, A., Domingo Santos, Á., Blanco Vicente, E., Infante Ceberio, I., Pardo Fernández, J., Costa Arpín, E., Painous Martí, C., Muñoz, J.E., Mir Rivera, P., Montón Álvarez, F., Bataller Alberola, L., Gascón Bayarri, J., Casasnovas Pons, C., Vélez Santamaría, V., López Munain, A., Fernández García Eulate, G., Gazulla Abío, J., Sanz Gallego, I., Rojas Bartolomé, L., Ayo Martín, Ó., Segura Martín, T., González Mingot, C., Baraldés Rovira, M., Sivera Mascaró, R., Cubo Delgado, E., Echevarría Íñiguez, A., Vázquez Sánchez, F., Bártulos Iglesias, M., Casadevall Codina, M.T., Martínez Fernández, E.M., Lavandeira Suárez, C., Alemany Perna, B., Carvajal Hernández, A., Fernández Moreno, C., Palacín Larroy, M., Caballol Pons, N., Ávila Rivera, A., Navacerrada Barrero, F.J., Lobato Rodríguez, R., and Sobrido Gómez, M.J. more...
- Abstract
Las ataxias (AT) y paraparesias espásticas hereditarias (PEH) son síndromes neurodegenerativos raros. Nos proponemos conocer la prevalencia de las AT y PEH en España en 2019.
- Published
- 2021
- Full Text
- View/download PDF
22. Cerebrovascular disease in a tertiary care hospital. Current situation and issues to be improved,Patología cerebrovascular en un hospital terciario. Situación actual y puntos de mejora
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Gómez-Esteban, J. C., Pérez-Concha, T., Zarranz, J., Garibi-Undabarrena, J. M., Gutiérrez, G., Velasco, F., Larracoechea-Jausoro, J., Garamendi, I., Losada, J., Bilbao, I., Boyero, S., Fernández, M., Mendibe-Bilbao, M. M., Jose Eulalio Barcena Llona, Rouco-Axpe, I., Fernández, C., Lezcano-García, E., and Forcadas-Berdusán, M. I. more...
23. [Cerebrovascular disease in a tertiary care hospital. The current situation and points to be improved]
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Jc, Gómez-Esteban, Pérez-Concha T, Zarranz J, Jm, Garibi-Undabarrena, Gutiérrez G, Velasco F, Larracoechea-Jausoro J, Garamendi I, Losada J, Bilbao I, Boyero S, Fernández M, Mm, Mendibe-Bilbao, Eulalio Barcena Llona, Rouco-Axpe I, Fernández C, Lezcano-García E, and Mi, Forcadas-Berdusán more...
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Adult ,Aged, 80 and over ,Hospitalization ,Male ,Cerebrovascular Disorders ,Adolescent ,Spain ,Humans ,Female ,Middle Aged ,Hospitals ,Aged ,Retrospective Studies - Abstract
Caring for patients suffering from a cerebrovascular diseases requires a large quantity of resources which must be optimised. The aim of this study is to analyse the management of stroke in a tertiary care hospital.All admissions with a diagnosis of stroke were analysed retrospectively for the year 2003. Length of stay, computed tomography in the Emergency Room, origin, previous admissions during the last year, presence of vascular risk factors, stroke subtype, complications and mortality during admission and destination when discharged from hospital, were all recorded.936 patients were admitted to hospital with a diagnosis of stroke. 80.22% corresponded to acute ischaemic strokes (27.14% lacunar, 18.57% transient ischaemic attacks, 10.25% cardioembolic, 15.44% aterothrombotic, 8.44% infarct of undetermined cause, 0.24% unusual aetiology) and 19.78% corresponded to haemorrhagic strokes (13.99% intraparenchymatous hemorrhage, 5.79% subarachnoid hemorrhage). Intra-hospital mortality was 5.3%. 11% suffered from complications while in hospital, and average length of stay was 10.4 days, being much longer for those patients discharged to a medium-long stay centre (17.5 days). Compared to other series, the incidence of cardioembolic and aterothrombotic subtypes of stroke is low. However, because of the inclusion of neurosurgical patients, an increase of cerebral haemorrhages is observed.Intra-hospital morbidity and mortality and average length of stay in our series are consistent with those from other centres of similar characteristics. A better coordination with medium-long stay centres along with the presence of neurologists on call, would certainly improve these variables. more...
24. Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment
- Author
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Thomas Roux, Mathieu Barbier, Mélanie Papin, Claire-Sophie Davoine, Sabrina Sayah, Giulia Coarelli, Perrine Charles, Cecilia Marelli, Livia Parodi, Christine Tranchant, Cyril Goizet, Stephan Klebe, Ebba Lohmann, Lionel Van Maldergem, Christine van Broeckhoven, Marie Coutelier, Christelle Tesson, Giovanni Stevanin, Charles Duyckaerts, Alexis Brice, Alexandra Durr, Frédéric Darios, Sylvie Forlani, Pitié-Salpêtrière Site, Guillaume Banneau, Cécile Cazeneuve, Bertrand Fontaine, Jean-Philippe Azulay, Odile Boesfplug-Tanguy, Didier Hannequin, Jamilé Hazan, Andrea Burgo, Christophe Verny, Michel Koenig, Pierre Labauge, Karine N’guyen, Diana Rodriguez, Soraya Belarbi, Abdelmadjid Hamri, Meriem Tazir, Sylvia Boesch, Massimo Pandolfo, Jardim Laura, Velina Guergueltcheva, Ivalo Tournev, Olga Lucia Pedraza Linarès, Jørgen E. Nielsen, Kirsten Svenstrup, Maha Zaki, Peter Bauer, Lüdger Schöls, Rebecca Schüle, Alexander Lossos, Maria-Teresa Bassi, Manuela Basso, Enrico Bertini, Alfredo Brusco, Carlo Casali, Giorgio Casari, Chiara Criscuolo, Alessandro Filla, Laura Orsi, Filippo M. Santorelli, Enza Maria Valente, Marinela Vavla, Giovanni Vazza, André Megarbane, Ali Benomar, Berry Kremer, Willeke Van Roon-Mom, Richard Roxburgh, Anne Kjersti Erichsen, Chantal Tallaksen, Isabel Alonso, Paula Coutinho, José Léal Loureiro, Jorge Sequeiros, Mustapha Salih, Vladimir S. Kostic, Idoia Rouco Axpe, Liena Elsayed, Martin Arce Paucar, Samir Roumani, Soong Bing-Wen, Evan Reid, Nethisinghe Suran, Thomas Warner, Nicholas Wood, Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Département de neurologie [Montpellier], Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui de Chauliac [Montpellier]-Université de Montpellier (UM), Mécanismes moléculaires dans les démences neurodégénératives (MMDN), Université de Montpellier (UM)-Université Montpellier 2 - Sciences et Techniques (UM2)-Institut National de la Santé et de la Recherche Médicale (INSERM)-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL), CHU Strasbourg, Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) (U1211 INSERM/MRGM), Université de Bordeaux (UB)-Groupe hospitalier Pellegrin-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Bordeaux [Bordeaux], Universitätsklinikum Essen [Universität Duisburg-Essen] (Uniklinik Essen), University of Tübingen, Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), University of Antwerp (UA), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), SPATAX Network, Roux, T., Barbier, M., Papin, M., Davoine, C. -S., Sayah, S., Coarelli, G., Charles, P., Marelli, C., Parodi, L., Tranchant, C., Goizet, C., Klebe, S., Lohmann, E., Van Maldergen, L., van Broeckhoven, C., Coutelier, M., Tesson, C., Stevanin, G., Duyckaerts, C., Brice, A., Durr, A., Darios, F., Forlani, S., Site, P. -S., Banneau, G., Cazeneuve, C., Fontaine, B., Azulay, J. -P., Boesfplug-Tanguy, O., Hannequin, D., Hazan, J., Burgo, A., Verny, C., Koenig, M., Labauge, P., N'Guyen, K., Rodriguez, D., Belarbi, S., Hamri, A., Tazir, M., Boesch, S., Pandolfo, M., Laura, J., Guergueltcheva, V., Tournev, I., Pedraza Linares, O. L., Nielsen, J. E., Svenstrup, K., Zaki, M., Bauer, P., Schols, L., Schule, R., Lossos, A., Bassi, M. -T., Basso, M., Bertini, E., Brusco, A., Casali, C., Casari, G., Criscuolo, C., Filla, A., Orsi, L., Santorelli, F. M., Valente, E. M., Vavla, M., Vazza, G., Megarbane, A., Benomar, A., Kremer, B., Van Roon-Mom, W., Roxburgh, R., Erichsen, A. K., Tallaksen, C., Alonso, I., Coutinho, P., Loureiro, J. L., Sequeiros, J., Salih, M., Kostic, V. S., Rouco Axpe, I., Elsayed, L., Paucar, M. A., Roumani, S., Bing-Wen, S., Reid, E., Suran, N., Warner, T., and Wood, N. more...
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Male ,Pathology ,MESH: Ataxia ,Purkinje cell ,Medizin ,MESH: Cognitive Dysfunction ,0302 clinical medicine ,spinocerebellar ataxia ,ATP-Dependent Proteases ,SCA48 ,Medicine ,Genetics (clinical) ,0303 health sciences ,Penetrance ,3. Good health ,MESH: Cerebellar Ataxia ,MESH: ATPases Associated with Diverse Cellular Activities ,medicine.anatomical_structure ,Spinocerebellar ataxia ,Female ,medicine.symptom ,Frontotemporal dementia ,medicine.medical_specialty ,Ataxia ,Cerebellar Ataxia ,MESH: Spinocerebellar Ataxias ,Ubiquitin-Protein Ligases ,Neuropathology ,03 medical and health sciences ,MESH: ATP-Dependent Proteases ,Atrophy ,Humans ,Spinocerebellar Ataxias ,Cognitive Dysfunction ,030304 developmental biology ,cognitive impairment ,SCAR16 ,STUB1 ,MESH: Humans ,Cerebellar ataxia ,business.industry ,medicine.disease ,MESH: Ubiquitin-Protein Ligases ,MESH: Male ,ATPases Associated with Diverse Cellular Activities ,[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics ,Human medicine ,business ,MESH: Female ,030217 neurology & neurosurgery - Abstract
International audience; Purpose: Pathogenic variants in STUB1 were initially described in autosomal recessive spinocerebellar ataxia type 16 and dominant cerebellar ataxia with cerebellar cognitive dysfunction (SCA48).Methods: We analyzed a large series of 440 index cerebellar ataxia cases, mostly with dominant inheritance.Results: STUB1 variants were detected in 50 patients. Age at onset and severity were remarkably variable. Cognitive impairment, predominantly frontal syndrome, was observed in 54% of STUB1 variant carriers, including five families with Huntington or frontotemporal dementia disease-like phenotypes associated with ataxia, while no STUB1 variant was found in 115 patients with frontotemporal dementia. We report neuropathological findings of a STUB1 heterozygous patient, showing massive loss of Purkinje cells in the vermis and major loss in the cerebellar hemispheres without atrophy of the pons, hippocampus, or cerebral cortex. This screening of STUB1 variants revealed new features: (1) the majority of patients were women (70%) and (2) "second hits" in AFG3L2, PRKCG, and TBP were detected in three families suggesting synergic effects.Conclusion: Our results reveal an unexpectedly frequent (7%) implication of STUB1 among dominantly inherited cerebellar ataxias, and suggest that the penetrance of STUB1 variants could be modulated by other factors, including sex and variants in other ataxia-related genes. more...
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- 2020
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25. A systematic review of social cognition in hereditary ataxia patients: Evidence from neuroimaging studies.
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Pallarès-Sastre M, García M, Rouco-Axpe I, and Amayra I
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- Humans, Social Cognition, Spinocerebellar Degenerations
- Abstract
Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. more...
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- 2024
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26. Neuropsychological Profile of Hereditary Ataxias: Study of 38 Patients.
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García M, Rouco-Axpe I, Amayra I, Rodríguez-Antigüedad A, Catalli C, Cabrera-Zubizarreta A, Rodríguez AA, and Pérez M
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- Cerebellum, Humans, Memory, Short-Term, Neuropsychological Tests, Cognition Disorders diagnosis, Spinocerebellar Degenerations complications
- Abstract
Hereditary ataxias are a heterogeneous group of disorders characterized by degeneration of the cerebellum and its connections. It is known that patients with ataxia can manifest a broad spectrum of motor symptoms; however, current research has emphasized the relevance of cognitive disturbances. The aim of this study is to analyze the presence of cognitive impairment in a heterogeneous cohort of patients with hereditary ataxia (HA). A group of 38 patients with HA of different etiologies and a matched group of 38 healthy controls were recruited and evaluated through a comprehensive battery of neuropsychological tests. The findings show a worse performance in ataxic patients on planning, visuospatial skills, naming, and Theory of Mind tasks, regardless their physical and psychological symptomatology. The influence of clinical status as well as functional ability-related variables on their performance were analyzed, showing that the level of disability and motor disturbances have a significant effect on verbal memory, verbal fluency, and working memory. These findings suggest that patients with HA can manifest cognitive and neuropsychiatric symptoms as part of their clinical features, which demands its inclusion for the diagnosis and management of the disease., (© The Author(s) 2022. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.) more...
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- 2022
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27. Hypomagnesemia: a Treatable Cause of Ataxia with Cerebellar Edema.
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Rouco Axpe I, Almeida Velasco J, Barreiro Garcia JG, Urbizu Gallardo JM, and Mateos Goñi B
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- Adult, Brain Edema drug therapy, Cerebellar Ataxia drug therapy, Cerebellum diagnostic imaging, Humans, Magnesium Deficiency diagnostic imaging, Male, Brain Edema diet therapy, Brain Edema etiology, Cerebellar Ataxia diet therapy, Cerebellar Ataxia etiology, Magnesium Deficiency complications, Magnesium Deficiency diet therapy
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- 2017
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28. [Cerebrovascular disease in a tertiary care hospital. The current situation and points to be improved].
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Gómez-Esteban JC, Pérez-Concha T, Zarranz J, Garibi-Undabarrena JM, Gutiérrez G, Velasco F, Larracoechea-Jausoro J, Garamendi I, Losada J, Bilbao I, Boyero S, Fernández M, Mendibe-Bilbao MM, Barcena-Llona J, Rouco-Axpe I, Fernández C, Lezcano-García E, and Forcadas-Berdusán MI more...
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- Adolescent, Adult, Aged, Aged, 80 and over, Female, Hospitalization, Humans, Male, Middle Aged, Retrospective Studies, Spain, Cerebrovascular Disorders rehabilitation, Hospitals standards
- Abstract
Introduction: Caring for patients suffering from a cerebrovascular diseases requires a large quantity of resources which must be optimised. The aim of this study is to analyse the management of stroke in a tertiary care hospital., Patients and Methods: All admissions with a diagnosis of stroke were analysed retrospectively for the year 2003. Length of stay, computed tomography in the Emergency Room, origin, previous admissions during the last year, presence of vascular risk factors, stroke subtype, complications and mortality during admission and destination when discharged from hospital, were all recorded., Results: 936 patients were admitted to hospital with a diagnosis of stroke. 80.22% corresponded to acute ischaemic strokes (27.14% lacunar, 18.57% transient ischaemic attacks, 10.25% cardioembolic, 15.44% aterothrombotic, 8.44% infarct of undetermined cause, 0.24% unusual aetiology) and 19.78% corresponded to haemorrhagic strokes (13.99% intraparenchymatous hemorrhage, 5.79% subarachnoid hemorrhage). Intra-hospital mortality was 5.3%. 11% suffered from complications while in hospital, and average length of stay was 10.4 days, being much longer for those patients discharged to a medium-long stay centre (17.5 days). Compared to other series, the incidence of cardioembolic and aterothrombotic subtypes of stroke is low. However, because of the inclusion of neurosurgical patients, an increase of cerebral haemorrhages is observed., Conclusions: Intra-hospital morbidity and mortality and average length of stay in our series are consistent with those from other centres of similar characteristics. A better coordination with medium-long stay centres along with the presence of neurologists on call, would certainly improve these variables. more...
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- 2005
29. Post-transplantation HTLV-1 myelopathy in three recipients from a single donor.
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Zarranz Imirizaldu JJ, Gomez Esteban JC, Rouco Axpe I, Perez Concha T, Velasco Juanes F, Allue Susaeta I, and Corral Carranceja JM
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- Adult, Female, HTLV-I Antibodies blood, HTLV-I Infections transmission, HTLV-II Antibodies blood, Humans, Immunosuppressive Agents administration & dosage, Immunosuppressive Agents adverse effects, Magnetic Resonance Imaging, Male, Middle Aged, Myelitis etiology, Paraplegia etiology, Risk Factors, Spinal Cord pathology, HTLV-I Infections diagnosis, Kidney Transplantation, Liver Transplantation, Myelitis diagnosis, Paraplegia diagnosis, Postoperative Complications diagnosis, Tissue Donors
- Abstract
Objectives: This paper reports for the first time three cases of infection by HTLV-I via organ transplantation; all the organs coming from the same asymptomatic infected donor. The need is considered for the implementation of compulsory screenings for HTLV antibodies on organ donors and on blood banks., Methods: The determination of antibodies for HTLV-I/II on samples of serum and cerebral spinal fluid from the patients and the donor was performed by enzyme immunoassay and western blot. Analysis of proviral DNA was performed by polymerase chain reaction. To detect changes in the sequence of amino acids, the tax gene was sequentiated, amplified, and compared with ATK prototype stocks. Spinal cord magnetic resonance imaging, cerebral spinal fluid, and somatosensory evoked potential studies were carried out in all patients., Results: All three transplanted patients developed a myelopathy within a very short period of time. In all three patients and donor the virus belonged to the Cosmopolitan A subtype. The homology of HTLV-I sequences recovered from the patients and donor was 100% in all four cases. Proviral load was high in all three patients. The factors that certainly contributed to the infection in the first place, and the development of the disease later, were on the one hand the high proviral load and their immunosuppressed condition, and on the other the virus genotype, which proved to be an aggressive variant. However, the analysis of the histocompatibility antigen showed that two of the patients carried an haplotype that has been associated with a lower risk of developing this disease., Conclusions: It is argued that, although in Spain and other European countries there is not compulsory screening for HTLV antibodies because of the studies that show a low seroprevalence, in view of the cases here reported, and to avoid the serious consequences that such infection has on transplanted patients, compulsory screenings, both on organ donors and on blood banks, should be implemented. more...
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- 2003
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30. [Mitochondrial leukoencephalopathy of infancy: is it an early expression of Leigh syndrome?].
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Rouco Axpe I, Garaizar Axpe C, Labairu Echevarría M, Sanjurjo Crespo P, Aldamiz Echevarría L, and Prats Viñas JM
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- Diagnosis, Differential, Female, Humans, Infant, Magnetic Resonance Imaging, Dementia, Vascular pathology, Leigh Disease pathology
- Abstract
Introduction: Leigh syndrome is probably the most frequent metabolic disorder in infancy and childhood. The classic form of the disease is characterized by bilateral lesions of basal ganglia and brainstem. The extensive involvement of white matter, without radiological basal ganglia abnormalities, is an unusual manifestation of the disease., Objective: Four patients who presented the disease during the first year of life are described., Patients and Methods: The four patients presented a stereotyped clinical picture, consisting of regression of already acquired psychomotor abilities and very prominent pyramidal signs. These clinical manifestations and results of neuroimaging studies suggested a primary leukodystrophy. Increased values of lactic and piruvic acids suggested a mitochondrial disorder. Enzymatic studies confirmed a mitochondrial respiratory chain deficiency in two patients, and a pyruvate dehydrogenase complex defect in the remaining two patients. The pathological findings in the latter two sisters were consistent with the characteristic microscopic lesions of Leigh syndrome, but with atypical distribution., Conclusion: Diagnosis of Leigh syndrome must be taken into consideration in infants presenting with a leukodystrophic clinical and radiological pattern, despite the lack of basal ganglia involvement. more...
- Published
- 2003
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