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Article

A case report of spinocerebellar ataxia with TRPC3 gene mutation and review of literature.

Journal of human genetics - 1 Jun 2026

Liu Yueying, Xie Miaoxian, Liu Fang, Chen Haibo, Su Wen, Ma Xinxin

Abstract excerpt

Spinocerebellar ataxia type 41 (SCA41) is a rare autosomal dominant cerebellar ataxia caused by mutations in the transient receptor potential canonical 3 (TRPC3) gene. We report a case of a patient with SCA41 whose clinical manifestations were initially suspected to be multiple system atrophy cerebellar-type (MSA-C). Whole-exome sequencing (WES) revealed a c.1955A>G (p.K652R) mutation in the TRPC3 gene of this...

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PMID: 41530546
DOI: 10.1038/s10038-025-01449-4

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TRPC3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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