Spinocerebellar ataxia Type 7: clinical and genetic study of a new Moroccan family (case report)

Spinocerebellar ataxia type 7 (SCA7) is a rare autosomal dominant neurodegenerative disease. Its clinical presentation is a progressive cerebellar ataxia associated with cone and retinal dystrophy. The CAG repeat expansion in the ataxin-7 gene (ATXN7) causes spinocerebellar ataxia type 7 - a mutatio...

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Detalles Bibliográficos
Autores principales: Bouzid, Fatima Zahra, Mansouri, Maria, Abdelaziz, Chaikhy, Louhab, Nisrine, Bernard, Sablonniere, Strubi-Vuillaume, Isabelle, Dafir, Kenza, Aboussair, Nisrine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The African Field Epidemiology Network 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8077635/
https://www.ncbi.nlm.nih.gov/pubmed/33995769
http://dx.doi.org/10.11604/pamj.2021.38.162.27262

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8077635/
https://www.ncbi.nlm.nih.gov/pubmed/33995769
http://dx.doi.org/10.11604/pamj.2021.38.162.27262

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