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Article

The CNTN4 c.4256C>T mutation is rare in Japanese with inherited spinocerebellar ataxia.

Journal of the neurological sciences - 15 Mar 2008

Tanaka Eiji, Maruyama Hirofumi, Morino Hiroyuki, Nakajima Eiko, Kawakami Hideshi

Abstract excerpt

To confirm the incidence of SCA16 in Japan, we screened DNA samples from a number of patients of ataxia of unknown etiology for the substitution. We examined a total of 323 DNA samples from Japanese patients with inherited spinocerebellar ataxia. We found no 317-base pair band in the patients with ataxia of unknown etiology. It seemed that this mutation (c.4256C>T) is rare in Japanese patients with inherited...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17915252
DOI: 10.1016/j.jns.2007.09.004

Genes

CNTN4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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