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; TATA-box binding protein gene; spinocerebellar ataxia 17; trinucleotide repeat.