Article
Spinocerebellar ataxia Type 7: clinical and genetic study of a new Moroccan family (case report).
The Pan African medical journal - 1 Jan 2021
Bouzid Fatima Zahra, Mansouri Maria, Abdelaziz Chaikhy, Louhab Nisrine, Bernard Sablonniere, Strubi-Vuillaume Isabelle, Dafir Kenza, Aboussair Nisrine
Abstract excerpt
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 mutation that results in the degeneration of the brain stem cells, retina and cerebellum. We report in this study the...
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