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

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• 作者：Yaeko Ichikawa ; Hiroyuki Ishiura ; Jun Mitsui ; Yuji Takahashi ; Shunsuke Kobayashi ; Hiroshi Takuma ; Ichiro Kanazawa ; Koichiro Doi ; Jun Yoshimura ; Shinichi Morishita ; Jun Goto ; Shoji Tsuji
• 关键词：Spinocerebellar ataxia ; Autosomal recessive 1 ; Linkage analysis ; Exome analysis ; Exon capture ; Massively parallel sequencing ; SETX ; Alpha-fetoprotein
• 刊名：Journal of the Neurological Sciences
• 出版年：2013
• 出版时间：15 August, 2013
• 年：2013
• 卷：331
• 期：1-2
• 页码：158-160
• 全文大小：500 K

文摘

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.