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Article

Clinical and genetic characterization of 16q-linked autosomal dominant spinocerebellar ataxia in South Kyushu, Japan.

Journal of human genetics - 1 Jul 2009

Hirano Ryuki, Takashima Hiroshi, Okubo Ryuichi, Okamoto Yuji, Maki Yoshimitsu, Ishida Shimon, Suehara Masahito, Hokezu Youichi, Arimura Kimiyoshi

Abstract excerpt

16q-ADCA (OMIM no. 117210) is an autosomal dominant spinocerebellar ataxia (AD-SCA) characterized by late-onset pure cerebellar ataxia and -16C>T substitution of the puratrophin-1 gene. Recently, a series of single-nucleotide polymorphisms (haplotype block) were found to be specific to 16q-ADCA. We screened patients with ataxia and found 62 patients, including four homozygotes who carry the C-T substitution of...

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PMID: 19444286
DOI: 10.1038/jhg.2009.44

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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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