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Article

Analysis of an insertion mutation in a cohort of 94 patients with spinocerebellar ataxia type 31 from Nagano, Japan.

Neurogenetics - 1 Oct 2010

Sakai Haruya, Yoshida Kunihiro, Shimizu Yusaku, Morita Hiroshi, Ikeda Shu-ichi, Matsumoto Naomichi

Abstract excerpt

Spinocerebellar ataxia type 31 (SCA31) is a recently defined subtype of autosomal dominant cerebellar ataxia (ADCA) characterized by adult-onset, pure cerebellar ataxia. The C/T substitution in the 5'-untranslated region of the puratrophin-1 gene (PLEKHG4) or a disease-specific haplotype within the 900-kb SCA31 critical region just upstream of PLEKHG4 has been used for the diagnosis of SCA31. Very recently, a...

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Identifiers

PMID: 20424877
DOI: 10.1007/s10048-010-0245-6
PMCID: PMC2944954

Genes

PLEKHG4

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

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