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Article

Phenotypic and molecular diversities of spinocerebellar ataxia type 2 in Japan.

Journal of neurology - 1 Aug 2021

Inada Rino, Hirano Makito, Oka Nobuyuki, Samukawa Makoto, Saigoh Kazumasa, Suzuki Hidekazu, Udaka Fukashi, Hashiguchi Akihiro, Takashima Hiroshi, Hamada Yukihiro, Nakamura Yusaku, Kusunoki Susumu

Abstract excerpt

BACKGROUND: We intended to clarify the phenotypic and molecular diversities of spinocerebellar ataxia type 2 (SCA2) in Japan. METHODS: DNA was extracted from the peripheral blood of 436 patients, including 126 patients with chronic neuropathy, 108 with amyotrophic lateral sclerosis, and 202 with cerebellar ataxia. We then PCR-amplified and sequenced the ATXN2 gene. The biopsied sural nerves of mutation-positive...

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PMID: 33625581
DOI: 10.1007/s00415-021-10467-z

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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