title: 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.
authors: Movement Disorder and Neurogenetics Research Center, China-Japan Friendship Hospital, Beijing, People's Republic China.
authors: Jin
authors: J
authors: Zhang
authors: Weihong
authors: W
authors: Gu
authors: Ying
authors: Y
authors: Hao
authors: Yuanyuan
authors: Y
authors: Chen
keywords: Neuroimage; TATA-box binding protein gene; spinocerebellar ataxia 17; trinucleotide repeat