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2 results on '"Ochoa-Sepulveda JJ"'

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

Author

Gómez-Garre P, Jesús S, Periñán MT, Adarmes A, Alonso-Canovas A, Blanco-Ollero A, Buiza-Rueda D, Carrillo F, Catalán-Alonso MJ, Del Val J, Escamilla-Sevilla F, Espinosa-Rosso R, Fernández-Moreno MC, García-Moreno JM, José García-Ruiz P, Giacometti-Silveira S, Gutiérrez-García J, López-Valdés E, Macías-García D, Martínez-Castrillo JC, Martínez-Torres I, Medialdea-Natera MP, Mínguez-Castellanos A, Moya MÁ, Ochoa-Sepulveda JJ, Ojea T, Rodríguez N, Sillero-Sánchez M, Tejera-Parrado C, and Mir P

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, literature review, isolated dystonia, mutational study, otorhinolaryngologic diseases, GNAL, THAP1, TOR1A, nervous system diseases
Abstract

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.

Published
2020

2. BDNF Val66Met polymorphism in primary adult-onset dystonia: a case-control study and meta-analysis

Author

Gomez-Garre, P, Huertas-Fernandez, I, Caceres-Redondo, MT, Alonso-Canovas, A, Bernal-Bernal, I, Blanco-Ollero, A, Bonilla-Toribio, M, Burguera, JA, Carballo, M, Carrillo, F, Catalan-Alonso, MJ, Escamilla-Sevilla, F, Espinosa-Rosso, R, Fernandez-Moreno, MC, Garcia-Caldentey, J, Garcia-Moreno, JM, Garcia-Ruiz, PJ, Giacometti-Silveira, S, Gutierrez-Garcia, J, Jesus, S, Lopez-Valdes, E, Martinez-Castrillo, JC, Martinez-Torres, I, Medialdea-Natera, MP, Mendez-Lucena, C, Minguez-Castellanos, A, Moya, M, Ochoa-Sepulveda, JJ, Ojea, T, Rodriguez, N, Sillero-Sanchez, M, Vargas-Gonzalez, L, and Mir, P

Subjects
Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Genotype, Brain-Derived Neurotrophic Factor, Valine, Middle Aged, association study, Polymorphism, Single Nucleotide, nervous system diseases, meta-analysis, BDNF, Methionine, Gene Frequency, Val66Met, Dystonic Disorders, Case-Control Studies, otorhinolaryngologic diseases, Humans, Female, Genetic Predisposition to Disease, Primary dystonia, Genetic Association Studies, Aged
Abstract

Background: A polymorphism in brain-derived neurotrophic factor (BDNF) (Val66Met) has been reported as a risk factor in primary dystonia. However, overall the results have been inconclusive. Our aim was to clarify the association of Val66Met with primary dystonia, and with the most prevalent clinical subtypes, cervical dystonia and blepharospasm. Methods: We conducted a Spanish multicenter case-control study (including 680 primary dystonia patients and 788 healthy controls) and performed a meta-analysis integrating our study and six previously published studies (including a total of 1,936 primary dystonia patients and 2,519 healthy controls). Results: We found no allelic or genotypic association with primary dystonia, cervical dystonia, or blepharospasm risks, for the allele A (Met) from a BDNF Val66Met polymorphism in our case-control study. This was confirmed by results from our meta-analysis in white and mixed ethnic populations in any genetic model. Conclusion: We did not find any evidence supporting the association of the BDNF Val66Met polymorphism with primary dystonia. (C) 2014 International Parkinson and Movement Disorder Society

Published
2014

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