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Article

RFC1 repeat expansion in Japanese patients with late-onset cerebellar ataxia.

Journal of human genetics - 1 Dec 2020

Tsuchiya Mai, Nan Haitian, Koh Kishin, Ichinose Yuta, Gao Lihua, Shimozono Keisuke, Hata Takanori, Kim Yeon-Jeong, Ohtsuka Toshihisa, Cortese Andrea, Takiyama Yoshihisa

Abstract excerpt

Recently, the expansion of an intronic AAGGG repeat in the replication factor C subunit 1 (RFC1) gene was reported to cause cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS). In Europeans, the expansion accounted for 22% of sporadic patients with late-onset ataxia. We genotyped 37 Japanese patients comprising 25 familial (autosomal recessive or undecided transmission) and 12 sporadic ones with...

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Identifiers

PMID: 32694621
DOI: 10.1038/s10038-020-0807-x

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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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