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

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.

• Authors: Yaeko Ichikawa, Hiroyuki Ishiura, Jun Mitsui, Yuji Takahashi, Shunsuke Kobayashi, Hiroshi Takuma, Ichiro Kanazawa, Koichiro Doi, Jun Yoshimura, Shinichi Morishita, Jun Goto, Shoji Tsuji
• Journal: Journal of the neurological sciences (J Neurol Sci) Vol. 331 Issue 1-2 Pg. 158-60 (Aug 15 2013) ISSN: 1878-5883 [Electronic] Netherlands
• PMID: 23786967 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2013 Elsevier B.V. All rights reserved.

Chemical References

• Multifunctional Enzymes
• SETX protein, human
• DNA Helicases
• RNA Helicases

Topics

• DNA Helicases
• DNA Mutational Analysis
• Exome (genetics)
• Family Health
• Female
• Genetic Linkage
• Humans
• Japan
• Male
• Multifunctional Enzymes
• Polymorphism, Single Nucleotide (genetics)
• RNA Helicases (genetics)
• Spinocerebellar Ataxias (congenital)
• Spinocerebellar Degenerations (genetics)