Large de novo expansion of CAG repeats in patient with sporadic spinocerebellar ataxia type 7

Abstrakt

Spinocerebellar ataxia 7 (SCA7) is a progressive autosomal dominant neurodegenerative disorder characterized clinically by cerebellar ataxia associated with progressive macular dystrophy.

Klíčová slova

• Spinocerebellar ataxia 7
• SCA7