发作性共济失调/肌束震颤综合征与人类钾通道基因KCNA1中的点突变有关。

Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1.

作者信息

Browne D L, Gancher S T, Nutt J G, Brunt E R, Smith E A, Kramer P, Litt M

机构信息

Department of Biochemistry and Molecular Biology, Oregon Health Sciences University, Portland 97201.

出版信息

Nat Genet. 1994 Oct;8(2):136-40. doi: 10.1038/ng1094-136.

DOI:10.1038/ng1094-136

PMID:7842011

Abstract

Episodic ataxia (EA) is a rare, familial disorder producing attacks of generalized ataxia, with normal or near-normal neurological function between attacks. One type of EA is characterized by brief episodes of ataxia with myokymia (rippling of muscles) evident between attacks. Linkage studies in four such families suggested localization of an EA/myokymia gene near the voltage gated K+ channel gene, KCNA1 (Kv1.1), on chromosome 12p. Mutation analysis of the KCNA1 coding region in these families identified four different missense point mutations present in the heterozygous state, indicating that EA/myokymia can result from mutations in this gene.

摘要

发作性共济失调（EA）是一种罕见的家族性疾病，会引发全身性共济失调发作，发作间期神经功能正常或接近正常。其中一种类型的EA表现为共济失调发作短暂，发作间期可见明显的肌束震颤（肌肉波动）。对四个此类家族进行的连锁研究表明，EA/肌束震颤基因定位于12号染色体短臂上的电压门控钾离子通道基因KCNA1（Kv1.1）附近。对这些家族中KCNA1编码区的突变分析发现了四个杂合状态下的不同错义点突变，表明EA/肌束震颤可能由该基因的突变引起。