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Article

Novel CACNA1A Variant p.Cys256Phe Disrupts Disulfide Bonds and Causes Spinocerebellar Ataxia.

Movement disorders : official journal of the Movement Disorder Society - 1 Feb 2022

Nikonishyna Yuliia V, Ortner Nadine J, Kaserer Teresa, Hoffmann Jessica, Biskup Saskia, Dafotakis Manuel, Reetz Kathrin, Schulz Jörg B, Striessnig Jörg, Dohrn Maike F

Abstract excerpt

BACKGROUND: Spinocerebellar ataxia (SCA) is a progressive, autosomal dominant neurodegenerative disorder typically associated with CAG repeat expansions. OBJECTIVE: We assessed the pathogenicity of the novel, heterozygous missense variant p.Cys256Phe (C256F) in the pore-forming α1-subunit of the Cav2.1 Ca2+ channel found in a 63-year-old woman with SCA with no CAG repeat expansion. METHODS: We examined the effect...

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PMID: 34647648
DOI: 10.1002/mds.28835

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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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