title: Unusual cerebral white matter change in a Chinese family with Spinocerebellar ataxia type 12.
abstract: In a Chinese family with Spinocerebellar ataxia type 12 (SCA12), presenting with action tremor, mild cerebellar dysfunction, and hyperreflexia, genetic testing revealed abnormal CAG repeat length in the brain-specific protein phosphatase 2, regulatory subunit B, beta isoform (PPP2R2B) gene. To our knowledge, this is the first report on patients with SCA12 presenting with prominent cerebral white matter change besides cerebral and/or cerebellar atrophy.
authors.affiliation: Department of Neurology, Chengdu Aerospace Hospital, Chengdu Sichuan, China.
authors.forename: Tao
authors.initials: T
authors.lastname: Hu
authors.affiliation: Department of Neurology, West China Hospital, Sichuan University, Chengdu Sichuan, China.
authors.forename: Bi
authors.initials: B
authors.lastname: Zhao
authors.affiliation: Department of Neurology, West China Hospital, Sichuan University, Chengdu Sichuan, China.
authors.forename: Qian-qian
authors.initials: QQ
authors.lastname: Wei
authors.affiliation: Department of Neurology, West China Hospital, Sichuan University, Chengdu Sichuan, China. Electronic address: hfshang2002@126.com.
authors.forename: Huifang
authors.initials: H
authors.lastname: Shang
mesh_terms: D044466:Asian People; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D020754:Spinocerebellar Ataxias / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology; D014202:Tremor / Q000209:etiology / Q000235:genetics; D066127:White Matter / Q000473:pathology*
keywords: Ataxia; CAG repeat; SCA12; Spinocerebellar ataxia; Tremor; White matter