Unusual cerebral white matter change in a Chinese family with Spinocerebellar ataxia type 12

Tao Hu; Bi Zhao; Qian-qian Wei; Huifang Shang

doi:10.1016/j.jns.2014.12.045

Unusual cerebral white matter change in a Chinese family with Spinocerebellar ataxia type 12

J Neurol Sci. 2015 Feb 15;349(1-2):243-5. doi: 10.1016/j.jns.2014.12.045. Epub 2015 Jan 5.

Authors

Tao Hu¹, Bi Zhao², Qian-qian Wei², Huifang Shang³

Affiliations

¹ Department of Neurology, Chengdu Aerospace Hospital, Chengdu Sichuan, China.
² Department of Neurology, West China Hospital, Sichuan University, Chengdu Sichuan, China.
³ Department of Neurology, West China Hospital, Sichuan University, Chengdu Sichuan, China. Electronic address: hfshang2002@126.com.

PMID: 25586539
DOI: 10.1016/j.jns.2014.12.045

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.

Keywords: Ataxia; CAG repeat; SCA12; Spinocerebellar ataxia; Tremor; White matter.

Publication types

Case Reports

MeSH terms

Asian People
Female
Humans
Magnetic Resonance Imaging*
Middle Aged
Spinocerebellar Ataxias / genetics
Spinocerebellar Ataxias / pathology*
Spinocerebellar Ataxias / physiopathology
Tremor / etiology
Tremor / genetics
White Matter / pathology*

Supplementary concepts

Spinocerebellar Ataxia 12