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Article

Clinical features and genetic characteristics of homozygous spinocerebellar ataxia type 3.

Molecular genetics & genomic medicine - 1 Sept 2020

Li Quan-Fu, Cheng Hao-Ling, Yang Lu, Ma Yin, Zhao Jing-Jing, Dong Yi, Wu Zhi-Ying

Abstract excerpt

BACKGROUND: Homozygous spinocerebellar ataxia type 3 (SCA3) patients, which have an expanded cytosine-adenine-guanine (CAG) repeat mutation in both alleles of ATXN3, are extremely rare. Clinical features and genetic characteristics of them were seldom studied. METHODS: We analyzed seven newly homozygous SCA3 patients from five families and 14 homozygotes reported previously. An additional cohort of 30...

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PMID: 32643267
DOI: 10.1002/mgg3.1314
PMCID: PMC7507100

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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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