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11 results on '"Jesús Maestre, Silvia"'

1. Large-Scale Screening: Phenotypic and Mutational Spectrum in Isolated and Combined Dystonia Genes

Author

Federal Ministry of Education and Research (Germany), German Research Foundation, Jesús Maestre, Silvia [0000-0002-1874-4628], Mir, Pablo [0000-0003-1656-302X], Thomsen, Mirja, Marth, Katrin, Loens, Sebastian, Everding, Judith, Junker, Johanna, Borngräber, Friederike, Ott, Fabian, Jesús Maestre, Silvia, Gelderblom, Mathias, Odorfer, Thorsten, Kuhlenbäumer, Gregor, Kim, Han-Joon, Schaeffer, Eva, Becktepe, Jos, Kasten, Meike, Brüggemann, Norbert, Pfister, Robert, Kollewe, Katja, Krauss, Joachim K., Lohmann, Ebba, Hinrichs, Frauke, Berg, Daniela, Jeon, Beomseok, Busch, Hauke, Altenmüller, Eckart, Mir, Pablo, Kamm, Christoph, Volkmann, Jens, Zittel, Simone, Ferbert, Andreas, Zeuner, Kirsten E., Rolfs, Arndt, Bauer, Peter, Kühn, Andrea A., Bäumer, Tobias, Klein, Christine, Lohmann, Katja, Federal Ministry of Education and Research (Germany), German Research Foundation, Jesús Maestre, Silvia [0000-0002-1874-4628], Mir, Pablo [0000-0003-1656-302X], Thomsen, Mirja, Marth, Katrin, Loens, Sebastian, Everding, Judith, Junker, Johanna, Borngräber, Friederike, Ott, Fabian, Jesús Maestre, Silvia, Gelderblom, Mathias, Odorfer, Thorsten, Kuhlenbäumer, Gregor, Kim, Han-Joon, Schaeffer, Eva, Becktepe, Jos, Kasten, Meike, Brüggemann, Norbert, Pfister, Robert, Kollewe, Katja, Krauss, Joachim K., Lohmann, Ebba, Hinrichs, Frauke, Berg, Daniela, Jeon, Beomseok, Busch, Hauke, Altenmüller, Eckart, Mir, Pablo, Kamm, Christoph, Volkmann, Jens, Zittel, Simone, Ferbert, Andreas, Zeuner, Kirsten E., Rolfs, Arndt, Bauer, Peter, Kühn, Andrea A., Bäumer, Tobias, Klein, Christine, and Lohmann, Katja

Abstract

[Background] Pathogenic variants in several genes have been linked to genetic forms of isolated or combined dystonia. The phenotypic and genetic spectrum and the frequency of pathogenic variants in these genes have not yet been fully elucidated, neither in patients with dystonia nor with other, sometimes co-occurring movement disorders such as Parkinson's disease (PD)., [Objectives] To screen >2000 patients with dystonia or PD for rare variants in known dystonia-causing genes., [Methods] We screened 1207 dystonia patients from Germany (DysTract consortium), Spain, and South Korea, and 1036 PD patients from Germany for pathogenic variants using a next-generation sequencing gene panel. The impact on DNA methylation of KMT2B variants was evaluated by analyzing the gene's characteristic episignature., [Results] We identified 171 carriers (109 with dystonia [9.0%]; 62 with PD [6.0%]) of 131 rare variants (minor allele frequency <0.005). A total of 52 patients (48 dystonia [4.0%]; four PD [0.4%, all with GCH1 variants]) carried 33 different (likely) pathogenic variants, of which 17 were not previously reported. Pathogenic biallelic variants in PRKRA were not found. Episignature analysis of 48 KMT2B variants revealed that only two of these should be considered (likely) pathogenic., [Conclusion] This study confirms pathogenic variants in GCH1, GNAL, KMT2B, SGCE, THAP1, and TOR1A as relevant causes in dystonia and expands the mutational spectrum. Of note, likely pathogenic variants only in GCH1 were also found among PD patients. For DYT-KMT2B, the recently described episignature served as a reliable readout to determine the functional effect of newly identified variants.

Published
2024

2. Suicidal ideation among people with Parkinson's disease and comparison with a control group

Author

Fundación Centro de Investigación de Enfermedades Neurológicas, Alpha Bioresearch, Instituto de Salud Carlos III, Santos-García, Diego [0000-0002-3126-5111], Santos-García, Diego, Deus Fonticoba, T. de, Cores Bartolomé, Carlos, Feal Painceiras, María J., García Díaz, Iago, Íñiguez-Alvarado, María Cristina, Jesús Maestre, Silvia, Buongiorno, Maria Teresa, Planellas, Lluís, Cosgaya, Marina, García Caldentey, Juan, Caballol, Nuria, Legarda, Inés, Hernández-Vara, Jorge, Cabo, Iria, López-Manzanares, Lydia, González-Aramburu, Isabel, Ávila-Rivera, María A., Gómez Mayordomo, Víctor, Nogueira, Víctor, Puente, Víctor, Dotor, Julio, Borrué, Carmen, Solano Vila, Berta, Álvarez-Sauco, María, Vela, Lydia, Escalante, Sonia, Cubo, Esther, Carrillo Padilla, Francisco, Martínez-Castrillo, J. C., Sánchez Alonso, Pilar, Alonso Losada, María G., López-Ariztegui, Nuria, Gastón, Itziar, Kulisevsky, Jaime, Blázquez-Estrada, Marta, Seijo, Manuel, Ruiz Martínez, Javier, Valero, Caridad, Kurtis, Mónica, Fábregues-Boixar, Oriol de, González Ardura, Jessica, Alonso Redondo, Rubén, Ordás, Carlos, López-Díaz, Luis M., McAfee, Darrian, Martínez-Martín, Pablo, Mir, Pablo, Fundación Centro de Investigación de Enfermedades Neurológicas, Alpha Bioresearch, Instituto de Salud Carlos III, Santos-García, Diego [0000-0002-3126-5111], Santos-García, Diego, Deus Fonticoba, T. de, Cores Bartolomé, Carlos, Feal Painceiras, María J., García Díaz, Iago, Íñiguez-Alvarado, María Cristina, Jesús Maestre, Silvia, Buongiorno, Maria Teresa, Planellas, Lluís, Cosgaya, Marina, García Caldentey, Juan, Caballol, Nuria, Legarda, Inés, Hernández-Vara, Jorge, Cabo, Iria, López-Manzanares, Lydia, González-Aramburu, Isabel, Ávila-Rivera, María A., Gómez Mayordomo, Víctor, Nogueira, Víctor, Puente, Víctor, Dotor, Julio, Borrué, Carmen, Solano Vila, Berta, Álvarez-Sauco, María, Vela, Lydia, Escalante, Sonia, Cubo, Esther, Carrillo Padilla, Francisco, Martínez-Castrillo, J. C., Sánchez Alonso, Pilar, Alonso Losada, María G., López-Ariztegui, Nuria, Gastón, Itziar, Kulisevsky, Jaime, Blázquez-Estrada, Marta, Seijo, Manuel, Ruiz Martínez, Javier, Valero, Caridad, Kurtis, Mónica, Fábregues-Boixar, Oriol de, González Ardura, Jessica, Alonso Redondo, Rubén, Ordás, Carlos, López-Díaz, Luis M., McAfee, Darrian, Martínez-Martín, Pablo, and Mir, Pablo

Abstract

[Background] Detection of suicidal ideation (SI) is key for trying to prevent suicide. The aim of this study was to analyze the frequency of SI and related factors in Spanish people with Parkinson's Disease (PwPD) and to compare them with a control group., [Methods] PD patients and controls recruited from the Spanish cohort COPPADIS from January 2016 to November 2017 were included. Two visits were conducted: V0 (baseline); V2 (2-year ± 1 month follow-up). SI was defined as a score ≥1 on item nine of the Beck Depression Inventory-II (BDI-II). Regression analyses were conducted to identify factors related to SI., [Results] At baseline, 693 PwPD (60.2% males; 62.59 ± 8.91 years old) and 207 controls (49.8% males; 60.99 ± 8.32 years old) were included. No differences between PwPD and controls were detected in SI frequency at either V0 (5.1% [35/693] vs. 4.3% [9/207]; p = 0.421) or at V2 (5.1% [26/508] vs. 4.8% [6/125]; p = 0.549). Major depression (MD) and a worse quality of life were associated with SI at both visits in PwPD: V0 (MD, OR = 5.63; p = 0.003; PDQ-39, OR = 1.06; p = 0.021); V2 (MD, OR = 4.75; p = 0.027; EUROHIS-QOL8, OR = 0.22; p = 0.006). A greater increase in the BDI-II total score from V0 to V2 was the only factor predicting SI at V2 (OR = 1.21; p = 0.002) along with an increase in the total number of non-antiparkinsonian drugs (OR = 1.39; p = 0.041)., [Conclusion] The frequency of SI (5%) in PwPD was similar to in controls. Depression, a worse quality of life, and a greater comorbidity were related to SI.

Published
2023

3. Staging Parkinson's disease according to the MNCD classification correlates with caregiver burden

Author

Ministerio de Economía y Competitividad (España), Instituto de Salud Carlos III, Junta de Andalucía, European Commission, Fundación Alimerka, Sociedad Andaluza de Neurología, Jacques and Gloria Gossweiler Foundation, Fundación Alicia Koplowitz, Fundación Mutua Madrileña, Santos-García, Diego, Deus Fonticoba, T. de, Cores Bartolomé, Carlos, Feal Painceiras, María J., García Díaz, Iago, Íñiguez-Alvarado, María Cristina, Paz, José Manuel, Jesús Maestre, Silvia, Cosgaya, Marina, García Caldentey, Juan, Caballol, Nuria, Legarda, Inés, Hernández-Vara, Jorge, Cabo, Iria, López-Manzanares, Lydia, González-Aramburu, Isabel, Ávila-Rivera, María A., Gómez Mayordomo, Víctor, Nogueira, Víctor, Dotor, Julio, Borrué, Carmen, Solano Vila, Berta, Álvarez-Sauco, María, Vela, Lydia, Escalante, Sonia, Cubo, Esther, Mendoza, Zebenzui, Martínez-Castrillo, J. C., Sánchez Alonso, Pilar, Alonso Losada, María G., López-Ariztegui, Nuria, Gastón, Itziar, Kulisevsky, Jaime, Seijo, Manuel, Valero, Caridad, Alonso Redondo, Rubén, Buongiorno, Maria Teresa, Ordás, Carlos, Menéndez-González, Manuel, McAfee, Darrian, Martínez-Martín, Pablo, Mir, Pablo, COPPADIS Study Group, Ministerio de Economía y Competitividad (España), Instituto de Salud Carlos III, Junta de Andalucía, European Commission, Fundación Alimerka, Sociedad Andaluza de Neurología, Jacques and Gloria Gossweiler Foundation, Fundación Alicia Koplowitz, Fundación Mutua Madrileña, Santos-García, Diego, Deus Fonticoba, T. de, Cores Bartolomé, Carlos, Feal Painceiras, María J., García Díaz, Iago, Íñiguez-Alvarado, María Cristina, Paz, José Manuel, Jesús Maestre, Silvia, Cosgaya, Marina, García Caldentey, Juan, Caballol, Nuria, Legarda, Inés, Hernández-Vara, Jorge, Cabo, Iria, López-Manzanares, Lydia, González-Aramburu, Isabel, Ávila-Rivera, María A., Gómez Mayordomo, Víctor, Nogueira, Víctor, Dotor, Julio, Borrué, Carmen, Solano Vila, Berta, Álvarez-Sauco, María, Vela, Lydia, Escalante, Sonia, Cubo, Esther, Mendoza, Zebenzui, Martínez-Castrillo, J. C., Sánchez Alonso, Pilar, Alonso Losada, María G., López-Ariztegui, Nuria, Gastón, Itziar, Kulisevsky, Jaime, Seijo, Manuel, Valero, Caridad, Alonso Redondo, Rubén, Buongiorno, Maria Teresa, Ordás, Carlos, Menéndez-González, Manuel, McAfee, Darrian, Martínez-Martín, Pablo, Mir, Pablo, and COPPADIS Study Group

Abstract

[Background and objective] Recently, we demonstrated that staging Parkinson's disease (PD) with a novel simple classification called MNCD, based on four axes (motor, non-motor, cognition, and dependency) and five stages, correlated with disease severity and patients’ quality of life. Here, we analyzed the correlation of MNCD staging with PD caregiver's status., [Patients and methods] Data from the baseline visit of PD patients and their principal caregiver recruited from 35 centers in Spain from the COPPADIS cohort from January 2016 to November 2017 were used to apply the MNCD total score (from 0 to 12) and MNCD stages (from 1 to 5) in this cross-sectional analysis. Caregivers completed the Zarit Caregiver Burden Inventory (ZCBI), Caregiver Strain Index (CSI), Beck Depression Inventory-II (BDI-II), PQ-10, and EUROHIS-QOL 8-item index (EUROHIS-QOL8)., [Results] Two hundred and twenty-four PD patients (63 ± 9.6 years old; 61.2% males) and their caregivers (58.5 ± 12.1 years old; 67.9% females) were included. The frequency of MNCD stages was 1, 7.6%; 2, 58.9%; 3, 31.3%; and 4–5, 2.2%. A more advanced MNCD stage was associated with a higher score on the ZCBI (p < .0001) and CSI (p < .0001), and a lower score on the PQ-10 (p = .001), but no significant differences were observed in the BDI-II (p = .310) and EUROHIS-QOL8 (p = .133). Moderate correlations were observed between the MNCD total score and the ZCBI (r = .496; p < .0001), CSI (r = .433; p < .0001), and BDI-II (r = .306; p < .0001) in caregivers., [Conclusion] Staging PD according to the MNCD classification is correlated with caregivers’ strain and burden.

Published
2023

4. Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort

Author

Michael J. Fox Foundation for Parkinson's Research, Vollstedt, Eva-Juliane, Schaake, Susen, Lohmann, Katja, Padmanabhan, Shalini, Brice, Alexis, Lesage, Suzanne, Tesson, Christelle, Vidailhet, Marie, Wurster, Isabel, Hentati, Faycel, Mirelman, Anat, Giladi, Nir, Marder, Karen, Waters, Cheryl, Fahn, Stanley, Kasten, Meike, Brüggemann, Norbert, Borsche, Max, Foroud, Tatiana, Tolosa, Eduardo, Garrido, Alicia, Annesi, Grazia, Gagliardi, Monica, Bozi, Maria, Stefanis, Leonidas, Ferreira, Joaquim, Correia Guedes, Leonor, Avenali, Micol, Petrucci, Simona, Clark, Lorraine, Fedotova, Ekaterina Y., Abramycheva, Natalya Y., Alvarez, Victoria, Menéndez-González, Manuel, Jesús Maestre, Silvia, Gómez-Garre, Pilar, Mir, Pablo, Belin, Andrea Carmine, Ran, Caroline, Lin, Chin-Hsien, Kuo, Ming-Che, Crosiers, David, Wszolek, Zbigniew K., Ross, Owen A., Jankovic, Joseph, Nishioka, Kenya, Funayama, Manabu, Clarimon, Jordi, Williams-Gray, Caroline H., Camacho, Marta, Cornejo-Olivas, Mario, Torres-Ramírez, Luis, Wu, Yih-Ru, Lee-Chen, Guey-Jen, Morgadinho, Ana, Pulkes, Teeratorn, Termsarasab, Pichet, Berg, Daniela, Kuhlenbäumer, Gregor, Kühn, Andrea A., Borngräber, Friederike, Michele, Giuseppe de, Rosa, Anna De, Zimprich, Alexander, Puschmann, Andreas, Mellick, George D., Dorszewska, Jolanta, Carr, Jonathan, Ferese, Rosangela, Gambardella, Stefano, Chase, Bruce, Markopoulou, Katerina, Satake, Wataru, Toda, Tatsushi, Rossi, Malco, Merello, Marcelo, Lynch, Timothy, Olszewska, Diana A., Lim, Shen-Yang, Ahmad-Annuar, Azlina, Tan, Ai Huey, Al-Mubarak, Bashayer, Hanagasi, Hasmet, Koziorowski, Dariusz, Ertan, Sibel, Genç, Gençer, Aguiar, Patricia de Carvalho, Barkhuizen, Melinda, Pimentel, Marcia M. G., Saunders-Pullman, Rachel, Warrenburg, Bart van de, Bressman, Susan, Toft, Mathias, Appel-Cresswell, Silke, Lang, Anthony E., Skorvanek, Matej, Boon, Agnita J. W., Krüger, Rejko, Sammler, Esther M., Tumas, Vitor, Zhang, Bao-Rong, Garraux, Gaetan, Chung, Sun Ju, Kim, Yun Joong, Winkelmann, Juliane, Sue, Carolyn M., Tan, Eng-King, Damásio, Joana, Klivényi, Péter, Kostic, Vladimir S., Arkadir, David, Martikainen, Mika, Borges, Vanderci, Hertz, Jens Michael, Brighina, Laura, Spitz, Mariana, Suchowersky, Oksana, Riess, Olaf, Das, Parimal, Mollenhauer, Brit, Gatto, Emilia M., Petersen, Maria Skaalum, Hattori, Nobutaka, Wu, Ruey-Meei, Illarioshkin, Sergey N., Valente, Enza Maria, Aasly, Jan O., Aasly, Anna, Alcalay, Roy N., Thaler, Avner, Farrer, Matthew J., Brockmann, Kathrin, Corvol, Jean-Christophe, Klein, Christine, on behalf of the MJFF Global Genetic Parkinson's Disease Study Group, Michael J. Fox Foundation for Parkinson's Research, Vollstedt, Eva-Juliane, Schaake, Susen, Lohmann, Katja, Padmanabhan, Shalini, Brice, Alexis, Lesage, Suzanne, Tesson, Christelle, Vidailhet, Marie, Wurster, Isabel, Hentati, Faycel, Mirelman, Anat, Giladi, Nir, Marder, Karen, Waters, Cheryl, Fahn, Stanley, Kasten, Meike, Brüggemann, Norbert, Borsche, Max, Foroud, Tatiana, Tolosa, Eduardo, Garrido, Alicia, Annesi, Grazia, Gagliardi, Monica, Bozi, Maria, Stefanis, Leonidas, Ferreira, Joaquim, Correia Guedes, Leonor, Avenali, Micol, Petrucci, Simona, Clark, Lorraine, Fedotova, Ekaterina Y., Abramycheva, Natalya Y., Alvarez, Victoria, Menéndez-González, Manuel, Jesús Maestre, Silvia, Gómez-Garre, Pilar, Mir, Pablo, Belin, Andrea Carmine, Ran, Caroline, Lin, Chin-Hsien, Kuo, Ming-Che, Crosiers, David, Wszolek, Zbigniew K., Ross, Owen A., Jankovic, Joseph, Nishioka, Kenya, Funayama, Manabu, Clarimon, Jordi, Williams-Gray, Caroline H., Camacho, Marta, Cornejo-Olivas, Mario, Torres-Ramírez, Luis, Wu, Yih-Ru, Lee-Chen, Guey-Jen, Morgadinho, Ana, Pulkes, Teeratorn, Termsarasab, Pichet, Berg, Daniela, Kuhlenbäumer, Gregor, Kühn, Andrea A., Borngräber, Friederike, Michele, Giuseppe de, Rosa, Anna De, Zimprich, Alexander, Puschmann, Andreas, Mellick, George D., Dorszewska, Jolanta, Carr, Jonathan, Ferese, Rosangela, Gambardella, Stefano, Chase, Bruce, Markopoulou, Katerina, Satake, Wataru, Toda, Tatsushi, Rossi, Malco, Merello, Marcelo, Lynch, Timothy, Olszewska, Diana A., Lim, Shen-Yang, Ahmad-Annuar, Azlina, Tan, Ai Huey, Al-Mubarak, Bashayer, Hanagasi, Hasmet, Koziorowski, Dariusz, Ertan, Sibel, Genç, Gençer, Aguiar, Patricia de Carvalho, Barkhuizen, Melinda, Pimentel, Marcia M. G., Saunders-Pullman, Rachel, Warrenburg, Bart van de, Bressman, Susan, Toft, Mathias, Appel-Cresswell, Silke, Lang, Anthony E., Skorvanek, Matej, Boon, Agnita J. W., Krüger, Rejko, Sammler, Esther M., Tumas, Vitor, Zhang, Bao-Rong, Garraux, Gaetan, Chung, Sun Ju, Kim, Yun Joong, Winkelmann, Juliane, Sue, Carolyn M., Tan, Eng-King, Damásio, Joana, Klivényi, Péter, Kostic, Vladimir S., Arkadir, David, Martikainen, Mika, Borges, Vanderci, Hertz, Jens Michael, Brighina, Laura, Spitz, Mariana, Suchowersky, Oksana, Riess, Olaf, Das, Parimal, Mollenhauer, Brit, Gatto, Emilia M., Petersen, Maria Skaalum, Hattori, Nobutaka, Wu, Ruey-Meei, Illarioshkin, Sergey N., Valente, Enza Maria, Aasly, Jan O., Aasly, Anna, Alcalay, Roy N., Thaler, Avner, Farrer, Matthew J., Brockmann, Kathrin, Corvol, Jean-Christophe, Klein, Christine, and on behalf of the MJFF Global Genetic Parkinson's Disease Study Group

Abstract

[Background] As gene-targeted therapies are increasingly being developed for Parkinson's disease (PD), identifying and characterizing carriers of specific genetic pathogenic variants is imperative. Only a small fraction of the estimated number of subjects with monogenic PD worldwide are currently represented in the literature and availability of clinical data and clinical trial-ready cohorts is limited., [Objective] The objectives are to (1) establish an international cohort of affected and unaffected individuals with PD-linked variants; (2) provide harmonized and quality-controlled clinical characterization data for each included individual; and (3) further promote collaboration of researchers in the field of monogenic PD., [Methods] We conducted a worldwide, systematic online survey to collect individual-level data on individuals with PD-linked variants in SNCA, LRRK2, VPS35, PRKN, PINK1, DJ-1, as well as selected pathogenic and risk variants in GBA and corresponding demographic, clinical, and genetic data. All registered cases underwent thorough quality checks, and pathogenicity scoring of the variants and genotype–phenotype relationships were analyzed., [Results] We collected 3888 variant carriers for our analyses, reported by 92 centers (42 countries) worldwide. Of the included individuals, 3185 had a diagnosis of PD (ie, 1306 LRRK2, 115 SNCA, 23 VPS35, 429 PRKN, 75 PINK1, 13 DJ-1, and 1224 GBA) and 703 were unaffected (ie, 328 LRRK2, 32 SNCA, 3 VPS35, 1 PRKN, 1 PINK1, and 338 GBA). In total, we identified 269 different pathogenic variants; 1322 individuals in our cohort (34%) were indicated as not previously published., [Conclusions] Within the MJFF Global Genetic PD Study Group, we (1) established the largest international cohort of affected and unaffected individuals carrying PD-linked variants; (2) provide harmonized and quality-controlled clinical and genetic data for each included individual; (3) promote collaboration in the field of genetic PD with a view toward clinical and genetic stratification of patients for gene-targeted clinical trials. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Published
2023

5. Integrating genetic and clinical data to predict impulse control disorders in Parkinson's disease

Author

Ministerio de Economía y Competitividad (España), Instituto de Salud Carlos III, Junta de Andalucía, Sociedad Andaluza de Neurología, Fundación Alicia Koplowitz, Fundación Mutua Madrileña, Jacques and Gloria Gossweiler Foundation, Jesús Maestre, Silvia, Perinán, María Teresa, Cortés, C., Buiza-Rueda, Dolores, Macías García, Daniel, Adarmes Gómez, A. D., Muñoz‐Delgado, Laura, Labrador, Miguel Ángel, Tejera-Parrado, Cristina, Gómez-Garre, Pilar, Ministerio de Economía y Competitividad (España), Instituto de Salud Carlos III, Junta de Andalucía, Sociedad Andaluza de Neurología, Fundación Alicia Koplowitz, Fundación Mutua Madrileña, Jacques and Gloria Gossweiler Foundation, Jesús Maestre, Silvia, Perinán, María Teresa, Cortés, C., Buiza-Rueda, Dolores, Macías García, Daniel, Adarmes Gómez, A. D., Muñoz‐Delgado, Laura, Labrador, Miguel Ángel, Tejera-Parrado, Cristina, and Gómez-Garre, Pilar

Abstract

[Background and purpose] Impulse control disorders (ICDs) are frequent in Parkinson’s disease (PD), with associated clinical and genetic risk factors. This study was aimed at analyzing the clinical features and the genetic background that underlie ICDs in PD., [Methods] We included 353 patients with PD in this study (58.9% men, mean age 62.4 ± 10.58 years, mean age at disease onset 52.71 ± 11.94 years). We used the validated Questionnaire for Impulsive–Compulsive Disorders in Parkinson’s Disease for ICDs screening. Motor, nonmotor, and treatment‐related features were evaluated according to the presence of ICDs. Twenty‐one variants related to dopaminergic, serotonergic, glutamatergic, and opioid neurotransmitter systems were assessed. Association studies between polymorphisms and ICDs were performed. The combination of clinical and genetic variables was analyzed with receiver operating characteristic curves to assess the predictability of experiencing ICDs., [Results] Impulse control disorders appeared in 25.1% of the cases. Patients with ICDs were younger and presented a higher rate of anxiety. Treatment with dopamine agonists increased the risk of ICDs and it was dose dependent (P < 0.05). Genetic association studies showed that the DOPA decarboxylase gene (DDC), rs1451375, might modulate the risk of ICDs. Plotting the clinical–genetic model, the predictability of ICDs increased 11% (area under curve = 0.80; z = 3.22, P = 0.001) when adding the genotype data for single nucleotide polymorphisms., [Conclusions] Polymorphisms in DDC might act as risk markers for ICDs in PD. The predictability of experiencing ICDs increased by adding genetic factors to clinical features. It is therefore important to assess the patient’s genetic background to identify individuals at risk for ICDs.

Published
2021

6. Peripheral Immune Profile and Neutrophil-to-Lymphocyte Ratio in Parkinson's Disease

Author

Ministerio de Ciencia e Innovación (España), Instituto de Salud Carlos III, European Commission, Junta de Andalucía, Fundación Alicia Koplowitz, Universidad de Sevilla, Muñoz-Delgado, Laura, Macías García, Daniel, Jesús Maestre, Silvia, Martín-Rodríguez, Juan Francisco, Labrador, Miguel Ángel, Jiménez-Jaraba, María Valle, Adarmes Gómez, A. D., Carrillo, Fátima, Mir, Pablo, Ministerio de Ciencia e Innovación (España), Instituto de Salud Carlos III, European Commission, Junta de Andalucía, Fundación Alicia Koplowitz, Universidad de Sevilla, Muñoz-Delgado, Laura, Macías García, Daniel, Jesús Maestre, Silvia, Martín-Rodríguez, Juan Francisco, Labrador, Miguel Ángel, Jiménez-Jaraba, María Valle, Adarmes Gómez, A. D., Carrillo, Fátima, and Mir, Pablo

Abstract

[Background] The neutrophil-to-lymphocyte ratio (NLR) in peripheral blood is a well-established inflammatory marker, but its role in Parkinson's disease (PD) remains unclear., [Objectives] To determine whether a different peripheral immune profile and NLR were present in PD patients., [Methods] We conducted a case–control study that included 377 PD patients and 355 healthy controls (HCs). Leukocytes, subpopulations, and the NLR were measured. Multivariate linear regression analyses were applied to determine the differences between groups and the association between NLR and clinical characteristics in PD. A meta-analysis was performed to clarify the association between NLR and PD., [Results] In our case–control study, the NLR was significantly higher in PD patients compared with HCs (2.47 ± 1.1 vs. 1.98 ± 0.91, P < 0.001). No association between NLR and age at onset, disease severity, or disease duration was found. The meta-analysis showed that the NLR was likely to be higher in PD patients., [Conclusions] PD patients had an altered peripheral immune profile and a higher NLR compared with HCs. © 2021 International Parkinson and Movement Disorder Society

Published
2021

7. Mutational spectrum of GNAL, THAP1 and TOR1A genes in isolated dystonia: study in a population from Spain and systematic literature review

Author

Instituto de Salud Carlos III, European Commission, Junta de Andalucía, Fundación Alicia Koplowitz, Fundación Mutua Madrileña, Universidad de Sevilla, Ministerio de Educación, Cultura y Deporte (España), Gómez-Garre, Pilar, Jesús Maestre, Silvia, Periñán, María Teresa, Adarmes Gómez, A. D., Alonso Cánovas, Araceli, Blanco-Ollero, Alberto, Buiza-Rueda, Dolores, Carrillo, Fátima, Catalán, M. J., Val, Javier del, Escamilla-Sevilla, Francisco, Espinosa-Rosso, Raúl, Fernández-Moreno, María Carmen, García Moreno, J. M., García-Ruiz, Pedro José, Giacometti-Silveira, Sandra, Gutiérrez-García, Javier, López-Valdés, Eva, Macías García, Daniel, Martínez-Castrillo, J. C., Martínez Torres, Irene, Medialdea-Natera, María Pilar, Mínguez-Castellanos, Adolfo, Moya, Miguel Ángel, Ochoa-Sepúlveda, Juan José, Ojea, Tomás, Rodríguez, Nuria, Sillero-Sánchez, Miriam, Tejera-Parrado, Cristina, Mir, Pablo, Instituto de Salud Carlos III, European Commission, Junta de Andalucía, Fundación Alicia Koplowitz, Fundación Mutua Madrileña, Universidad de Sevilla, Ministerio de Educación, Cultura y Deporte (España), Gómez-Garre, Pilar, Jesús Maestre, Silvia, Periñán, María Teresa, Adarmes Gómez, A. D., Alonso Cánovas, Araceli, Blanco-Ollero, Alberto, Buiza-Rueda, Dolores, Carrillo, Fátima, Catalán, M. J., Val, Javier del, Escamilla-Sevilla, Francisco, Espinosa-Rosso, Raúl, Fernández-Moreno, María Carmen, García Moreno, J. M., García-Ruiz, Pedro José, Giacometti-Silveira, Sandra, Gutiérrez-García, Javier, López-Valdés, Eva, Macías García, Daniel, Martínez-Castrillo, J. C., Martínez Torres, Irene, Medialdea-Natera, María Pilar, Mínguez-Castellanos, Adolfo, Moya, Miguel Ángel, Ochoa-Sepúlveda, Juan José, Ojea, Tomás, Rodríguez, Nuria, Sillero-Sánchez, Miriam, Tejera-Parrado, Cristina, and Mir, Pablo

Abstract

[Objective] We aimed to investigate the prevalence of TOR1A, GNAL and THAP1 variants as the cause of dystonia in a cohort of Spanish patients with isolated dystonia and in the literature., [Methods] A population of 2028 subjects (including 1053 patients with different subtypes of isolated dystonia and 975 healthy controls) from southern and central Spain was included. The genes TOR1A, THAP1 and GNAL were screened using a combination of high-resolution melting analysis and direct DNA resequencing. In addition, an extensive literature search to identify original articles (published before 10 August 2020) reporting mutations in TOR1A, THAP1 or GNAL associated to dystonia was performed., [Results] Pathogenic or likely pathogenic variants in TOR1A, THAP1 and GNAL were identified in 0.48%, 0.57% and 0.29% of our patients, respectively. Five patients carried the variation p.Glu303del in TOR1A. A very rare variant in GNAL (p.Ser238Asn) was found as a putative risk factor for dystonia. In the literature, variations in TOR1A, THAP1 and GNAL accounted for about 6%, 1.8% and 1.1% of published dystonia patients, respectively., [Conclusions] There is a different genetic contribution to dystonia of these three genes in our patients (about 1.3% of patients) and in the literature (about 3.6% of patients), probably due the high proportion of adult-onset cases in our cohort. As regards age at onset, site of dystonia onset, and final distribution, in our population there is a clear differentiation between DYT-TOR1A and DYT-GNAL, with DYT-THAP1 likely to be an intermediate phenotype.

Published
2021

8. 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

Author

Santos-García, Diego, Jesús Maestre, Silvia, Aguilar Barberá, Miquel, Planellas, Lluís, García Caldentey, Juan, Caballol, Nuria, Legarda, Inés, Hernández-Vara, Jorge, Cabo-Lopez, Iria, López-Manzanares, Lydia, González-Aramburu, Isabel, Ávila-Rivera, María A., Catalán, M. J., López-Díaz, Luis M., Puente, Víctor, García Moreno, J. M., Borrué, Carmen, Solano Vila, B., Álvarez Sauco, María, Vela-Desojo, Lydia, Escalante, Sonia, Cubo, Esther, Carrillo Padilla, Francisco, Martínez-Castrillo, J. C., Sánchez Alonso, Pilar, Alonso Losada, G., López-Ariztegui, Nuria, Gastón, Itziar, Kulisevsky, Jaime, Menéndez-González, Manuel, Seijo-Martínez, Manuel, Ruiz Martínez, Javier, Valero, Caridad, Kurtis, Monica, Fábregues-Boixar, Oriol de, González Ardura, J., Prieto Jurczynska, C., Martínez-Martín, Pablo, and Mir, Pablo

Subjects
Quality of life, Non‐motor symptoms, Parkinson's disease, Mood, Gait, Motor fluctuations
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 (Co hort of Patients with PA rkinson's DI sease 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.

Published
2019

9. Orthostatic Myoclonus Secondary to Central Pontine Myelinolysis

Author

Instituto de Salud Carlos III, Muñoz‐Delgado, Laura, Macías García, Daniel, Jesús Maestre, Silvia, Adarmes Gómez, A. D., Palomar, F. J., Carrillo, Fátima, Mir, Pablo, Instituto de Salud Carlos III, Muñoz‐Delgado, Laura, Macías García, Daniel, Jesús Maestre, Silvia, Adarmes Gómez, A. D., Palomar, F. J., Carrillo, Fátima, and Mir, Pablo

Abstract

Orthostatic myoclonus (OM) is a recently reported cause of “unsteadiness” or “shaky legs” during orthostatism and gait.1 We report on a middle‐aged woman with OM secondary to a central pontine myelinolysis (CPM). To the best of our knowledge, there have been no previous cases reported of OM attributed to a structural lesion involving the pons, which might reveal some clues to its pathophysiology.

Published
2020

10. The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population-Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight

Author

National Institutes of Health (US), Department of Defense (US), Michael J. Fox Foundation for Parkinson's Research, Instituto de Salud Carlos III, 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, Universidad de Sevilla, Bandres-Ciga, Sara, Ahmed, Sarah, Sabir, Marya S., Blauwendraat, Cornelis, Adarmes Gómez, A. D., Bernal-Bernal, Inmaculada, Bonilla-Toribio, Marta, Buiza-Rueda, Dolores, Carrillo, Fátima, Carrión-Claro, Mario, Gómez-Garre, Pilar, Jesús Maestre, Silvia, Labrador, Miguel Ángel, Macías García, Daniel, Méndez-Del Barrio, Carlota, Periñán, María Teresa, Tejera-Parrado, Cristina, Vargas-González, Laura, Díez-Fairen, Mónica, Álvarez, Ignacio, Tartari, J. P., Buongiorno, Maria Teresa, Aguilar, Miquel, Gorostidi, Ana, Bergareche, Jesús Alberto, Mondragon, Elisabet, Vinagre-Aragon, Ana, Croitoru, Ioana, Ruiz-Martínez, Javier, Dols-Icardo, Oriol, Kulisevsky, Jaime, Marín-Lahoz, Juan, Pagonabarraga-Mora, Javier, Pascual-Sedano, Berta, Ezquerra, Mario, Cámara, Ana, Compta, Yaroslau, Fernández Ortiga, Manel, Fernández-Santiago, Rubén, Muñoz, Esteban, Tolosa, Eduardo, Valldeoriola, Francesc, González-Aramburu, Isabel, Sanchez Rodriguez, Antonio, Sierra, María, Menéndez González, M., Blazquez, Marta, Garcia, Ciara, Suarez-San Martin, Esther, García-Ruíz, Pedro, Martínez-Castrillo, J. C., Vela-Desojo, Lydia, Ruz, Clara, Barrero, Francisco Javier, Escamilla-Sevilla, Francisco, Mínguez-Castellanos, Adolfo, Cerdan, Debora, Tabernero, César, Gomez Heredia, Maria Jose, Perez Errazquin, Francisco, Romero-Acebal, Manolo, Feliz, Cici, López-Sendón, José Luis, Mata, Marina, Martínez Torres, Irene, Kim, Jonggeol Jeffrey, Dalgard, Clifton L., Brooks, Janet, Saez-Atienzar, Sara, Gibbs, J. Raphael, Jorda, Rafael, Botia, Juan A., Bonet-Ponce, Luis, Morrison, Karen E., Clarke, Carl, Tan, Manuela, Morris, Huw, Edsall, Connor, Hernández, Dena, Simón-Sánchez, Javier, Nalls, Michael A., Scholz, Sonja, Jiménez Escrig, Adriano, Duarte, Jacinto, Vives, Francisco, Duran, Raquel, Hoenicka, Janet, Álvarez, Victoria, Infante, Jon, Martí, María-José, Clarimón, Jordi, López de Munain, Adolfo, Pastor, Pau, Mir, Pablo, Singleton, Andrew B., National Institutes of Health (US), Department of Defense (US), Michael J. Fox Foundation for Parkinson's Research, Instituto de Salud Carlos III, 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, Universidad de Sevilla, Bandres-Ciga, Sara, Ahmed, Sarah, Sabir, Marya S., Blauwendraat, Cornelis, Adarmes Gómez, A. D., Bernal-Bernal, Inmaculada, Bonilla-Toribio, Marta, Buiza-Rueda, Dolores, Carrillo, Fátima, Carrión-Claro, Mario, Gómez-Garre, Pilar, Jesús Maestre, Silvia, Labrador, Miguel Ángel, Macías García, Daniel, Méndez-Del Barrio, Carlota, Periñán, María Teresa, Tejera-Parrado, Cristina, Vargas-González, Laura, Díez-Fairen, Mónica, Álvarez, Ignacio, Tartari, J. P., Buongiorno, Maria Teresa, Aguilar, Miquel, Gorostidi, Ana, Bergareche, Jesús Alberto, Mondragon, Elisabet, Vinagre-Aragon, Ana, Croitoru, Ioana, Ruiz-Martínez, Javier, Dols-Icardo, Oriol, Kulisevsky, Jaime, Marín-Lahoz, Juan, Pagonabarraga-Mora, Javier, Pascual-Sedano, Berta, Ezquerra, Mario, Cámara, Ana, Compta, Yaroslau, Fernández Ortiga, Manel, Fernández-Santiago, Rubén, Muñoz, Esteban, Tolosa, Eduardo, Valldeoriola, Francesc, González-Aramburu, Isabel, Sanchez Rodriguez, Antonio, Sierra, María, Menéndez González, M., Blazquez, Marta, Garcia, Ciara, Suarez-San Martin, Esther, García-Ruíz, Pedro, Martínez-Castrillo, J. C., Vela-Desojo, Lydia, Ruz, Clara, Barrero, Francisco Javier, Escamilla-Sevilla, Francisco, Mínguez-Castellanos, Adolfo, Cerdan, Debora, Tabernero, César, Gomez Heredia, Maria Jose, Perez Errazquin, Francisco, Romero-Acebal, Manolo, Feliz, Cici, López-Sendón, José Luis, Mata, Marina, Martínez Torres, Irene, Kim, Jonggeol Jeffrey, Dalgard, Clifton L., Brooks, Janet, Saez-Atienzar, Sara, Gibbs, J. Raphael, Jorda, Rafael, Botia, Juan A., Bonet-Ponce, Luis, Morrison, Karen E., Clarke, Carl, Tan, Manuela, Morris, Huw, Edsall, Connor, Hernández, Dena, Simón-Sánchez, Javier, Nalls, Michael A., Scholz, Sonja, Jiménez Escrig, Adriano, Duarte, Jacinto, Vives, Francisco, Duran, Raquel, Hoenicka, Janet, Álvarez, Victoria, Infante, Jon, Martí, María-José, Clarimón, Jordi, López de Munain, Adolfo, Pastor, Pau, Mir, Pablo, and Singleton, Andrew B.

Abstract

Background: The Iberian Peninsula stands out as having variable levels of population admixture and isolation, making Spain an interesting setting for studying the genetic architecture of neurodegenerative diseases. Objectives: To perform the largest PD genome-wide association study restricted to a single country. Methods: We performed a GWAS for both risk of PD and age at onset in 7,849 Spanish individuals. Further analyses included population-specific risk haplotype assessments, polygenic risk scoring through machine learning, Mendelian randomization of expression, and methylation data to gain insight into disease-associated loci, heritability estimates, genetic correlations, and burden analyses. Results: We identified a novel population-specific genome-wide association study signal at PARK2 associated with age at onset, which was likely dependent on the c.155delA mutation. We replicated four genome-wide independent signals associated with PD risk, including SNCA, LRRK2, KANSL1/MAPT, and HLA-DQB1. A significant trend for smaller risk haplotypes at known loci was found compared to similar studies of non-Spanish origin. Seventeen PD-related genes showed functional consequence by two-sample Mendelian randomization in expression and methylation data sets. Long runs of homozygosity at 28 known genes/loci were found to be enriched in cases versus controls. Conclusions: Our data demonstrate the utility of the Spanish risk haplotype substructure for future fine-mapping efforts, showing how leveraging unique and diverse population histories can benefit genetic studies of complex diseases. The present study points to PARK2 as a major hallmark of PD etiology in Spain.

Published
2019

11. Low serum uric acid concentration in Parkinson's disease in southern Spain

Author

Ministerio de Ciencia e Innovación (España), Instituto de Salud Carlos III, Junta de Andalucía, Sociedad Andaluza de Neurología, Jacques and Gloria Gossweiler Foundation, Jesús Maestre, Silvia, Pérez, I., Cáceres-Redondo, María T., Carrillo, Fátima, Carballo, Manuel, Gómez-Garre, Pilar, Mir, Pablo, Ministerio de Ciencia e Innovación (España), Instituto de Salud Carlos III, Junta de Andalucía, Sociedad Andaluza de Neurología, Jacques and Gloria Gossweiler Foundation, Jesús Maestre, Silvia, Pérez, I., Cáceres-Redondo, María T., Carrillo, Fátima, Carballo, Manuel, Gómez-Garre, Pilar, and Mir, Pablo

Abstract

[Background and purpose] Uric acid (UA) is thought to have an antioxidant effect on the central nervous system and may also prevent cerebral damage induced by oxidative stress. Our study aimed to investigate whether patients with Parkinson's disease (PD) had lower serum UA concentrations than controls and whether UA concentration was related to clinical parameters of the disease., [Methods] We included 161 patients with PD and 178 controls from southern Spain. UA concentration was compared between these two groups. Clinical parameters including severity of the disease were related to serum UA., [Results] Patients with PD showed statistically significant lower serum UA concentrations than controls. Serum UA concentration was lower in patients with PD in severe stages (4 and 5) than in those in moderate stage (2) according to the modified Hoehn and Yahr scale. Other clinical parameters were not related to serum UA concentration, except for levodopa equivalent daily dose that was associated with lower serum UA concentration in men., [Conclusions] Our study produced consistent findings that UA might have a protective effect against PD and could influence its clinical progression.

Published
2013

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