Exome analysis reveals a Japanese family with spinocerebellar ataxia, autosomal recessive 1

被引：5

作者：

Ichikawa, Yaeko ^{[1
]}

Ishiura, Hiroyuki ^{[1
]}

Mitsui, Jun ^{[1
]}

Takahashi, Yuji ^{[1
]}

Kobayashi, Shunsuke ^{[2
]}

Takuma, Hiroshi ^{[3
]}

Kanazawa, Ichiro

Doi, Koichiro ^{[4
]}

Yoshimura, Jun ^{[4
]}

Morishita, Shinichi ^{[4
]}

Goto, Jun ^{[1
]}

Tsuji, Shoji ^{[1
]}

机构：

[1] Univ Tokyo, Dept Neurol, Grad Sch Med, Tokyo 1138655, Japan

[2] Fukushima Med Univ, Sch Med, Dept Neurol, Fukushima, Japan

[3] Univ Tsukuba, Fac Med, Dept Neurol, Tsukuba, Ibaraki 305, Japan

[4] Univ Tokyo, Grad Sch Frontier Sci, Dept Computat Biol, Tokyo 1138654, Japan

来源：

JOURNAL OF THE NEUROLOGICAL SCIENCES | 2013年 / 331卷 / 1-2期

关键词：

Spinocerebellar ataxia; Autosomal recessive 1; Linkage analysis; Exome analysis; Exon capture; Massively parallel sequencing; SETX; Alpha-fetoprotein;

D O I：

10.1016/j.jns.2013.05.018

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Spinocerebellar ataxia autosomal recessive 1 (SCAR1/AOA2) is clinically characterized by an early-onset progressive cerebellar ataxia with axonal neuropathy, ocular motor apraxia, and elevation of serum alpha-fetoprotein level. The disorder is caused by mutations in senataxin (SETX) gene. Here, we report a Japanese SCAR1/AOA2 family with a homozygous nonsense mutation (p.Q1441X) of SETX that was identified by exome sequencing. The family was previously reported as early-onset ataxia of undetermined cause. The present study emphasized the role of whole exome-sequence analysis to establish the molecular diagnosis of neurodegenerative disease presenting with diverse clinical presentations. (C) 2013 Elsevier B.V. All rights reserved.

引用

页码：158 / 160

页数：3

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