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Article

Extended haplotype with rs41524547-G defines the ancestral origin of SCA10.

Human molecular genetics - 3 Sept 2024

McFarland Karen N, Tiwari Anjana, Hashem Vera, Zhang Linwei, Zeng Desmond, Vincent Justin, Arredondo Maria J, Johnson Kristy L, Gan Shi Rui, Yabe Ichiro, Skov Laurits, Rasmussen Astrid, Ashizawa Tetsuo

Abstract excerpt

Spinocerebellar ataxia type 10 (SCA10) is a rare autosomal dominant ataxia caused by a large expansion of the (ATTCT)n repeat in ATXN10. SCA10 was described in Native American and Asian individuals which prompted a search for an expanded haplotype to confirm a common ancestral origin for the expansion event. All patients with SCA10 expansions in our cohort share a single haplotype defined at the 5'-end by the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 38832639
DOI: 10.1093/hmg/ddae092

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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