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SCA2 presenting as a focal dystonia

BACKGROUND: Spinocerebellar ataxia 2 (SCA2) is an autosomal dominant neurodegenerative disorder caused by CAG repeat expansions in ATXN2 on chromosome 12q24. Patients present with adult-onset progressive gait ataxia, slow saccades, nystagmus, dysarthria and peripheral neuropathy. Dystonia is known t...

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Detalles Bibliográficos
Autores principales: Cheng, Nan, Wied, Heather M., Gaul, James J., Doyle, Lauren E., Reich, Stephen G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6090825/
https://www.ncbi.nlm.nih.gov/pubmed/30123518
http://dx.doi.org/10.1186/s40734-018-0073-7