Spinocerebellar ataxia 17: Inconsistency between phenotype and neuroimage findings

Abstract

Spinocerebellar ataxia 17 (SCA17) is an autosomal dominant neurodegenerative disease clinically characterized by the presence of cerebellar ataxia in combination with variable neurological symptoms. Here we report a Chinese SCA17 family which proband′s clinical manifestation was inconsistent with the neuroimage findings.

Keywords

• Neuroimage
• spinocerebellar ataxia 17
• TATA-box binding protein gene
• trinucleotide repeat