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Article

Another common genetic ataxia in South Korea: Spinocerebellar ataxia 36.

European journal of human genetics : EJHG - 1 Apr 2026

Ahn Jong Hyeon, Lee Seungbok, Moon Jangsup, Han Yoojung, Chang Hyeshik, Youn Jinyoung, Cho Jin Whan, Jang Ja-Hyun

Abstract excerpt

Spinocerebellar ataxias (SCAs) represent a diverse group of neurodegenerative disorders characterized by progressive cerebellar ataxia. In South Korea, diagnostic laboratories typically focus on common SCA subtypes, leaving the prevalence of rare SCAs uncertain. This study aimed to explore the frequency of rarer forms of SCA, including SCA10, 12, 31, and 36 utilizing molecular techniques including long-read...

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PMID: 39994402
DOI: 10.1038/s41431-024-01783-9
PMCID: PMC13046802

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