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Article

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

Journal of the neurological sciences - 15 Aug 2013

Ichikawa Yaeko, Ishiura Hiroyuki, Mitsui Jun, Takahashi Yuji, Kobayashi Shunsuke, Takuma Hiroshi, Kanazawa Ichiro, Doi Koichiro, Yoshimura Jun, Morishita Shinichi, Goto Jun, Tsuji Shoji

Abstract excerpt

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...

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PMID: 23786967
DOI: 10.1016/j.jns.2013.05.018

Genes

SETX

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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