Spinocerebellar ataxia type 21 exists in the Chinese Han population.

Abstract

Recently, mutations in transmembrane protein 240 (TMEM240) were identified as the cause of spinocerebellar ataxia type 21 (SCA21) in several French families. Clinically, SCA21 is characterized as an early-onset, slowly progressive cerebellar syndrome typically associated with cognitive impairment. To date, molecular screening of SCA21 has not been reported among patients of other ethnic origins or in other areas. Here we used Sanger sequencing to detect mutations in exons of TMEM240 in 340 unrelated probands with spinocerebellar ataxia for whom commonly known causative mutations have been excluded (96 probands of autosomal dominant spinocerebellar ataxia families and 244 patients with sporadic spinocerebellar ataxia). As a result, a de novo missense mutation (c.509C > T/p.P170L) was identified in one sporadic SCA patient. The condition manifested as early-onset (30 years old), slowly progressive cerebellar ataxia accompanied by mild early evidenced mental retardation, mild frontal behavior disorders and intentional hand tremors. Although rare, a SCA21 case was identified and described in mainland China, thus broadening the ethnic distribution of SCA21 beyond French families.

• Authors: Sheng Zeng, Junsheng Zeng, Miao He, Xianfeng Zeng, Yao Zhou, Zhen Liu, Kun Xia, Qian Pan, Hong Jiang, Lu Shen, Xinxiang Yan, Beisha Tang, Junling Wang
• Journal: Scientific reports (Sci Rep) Vol. 6 Pg. 19897 (Jan 27 2016) ISSN: 2045-2322 [Electronic] England
• PMID: 26813285 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Membrane Proteins
• TMEM240 protein, human

Topics

• Adult
• Asian People
• China (epidemiology)
• Cognition
• DNA Mutational Analysis
• Exons
• Humans
• Introns
• Male
• Membrane Proteins (genetics)
• Motor Activity
• Mutation
• Pedigree
• Spinocerebellar Degenerations (diagnosis, epidemiology, genetics)