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Updated: May 10, 2026

Cerebellar Regional Dissection for Molecular Analysis
Published on: December 5, 2020
Exome analysis reveals a Japanese family with spinocerebellar ataxia, autosomal recessive 1
Yaeko Ichikawa1, Hiroyuki Ishiura, Jun Mitsui
1Department of Neurology, Graduate School of Medicine, The University of Tokyo, Japan.
Abstract:
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.
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