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Article

Two novel variants of VPS13C gene related Parkinsonism: A case report and literature review.

Medicine - 9 Jan 2026

Jiang Yanyan, Fan Chenghe

Abstract excerpt

RATIONALE: Mutations in the vacuolar protein sorting 13 homolog C (VPS13C) gene have been associated with Parkinson disease (PD). However, the mutation of VPS13C in Parkinsonism is uncommon and the clinical characteristics are highly heterogeneous. This study identifies 2 novel pathogenic variants in VPS13C, with particular emphasis on follow-up brain magnetic resonance imaging (MRI) images. PATIENT CONCERNS: The...

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Identifiers

PMID: 41517720
DOI: 10.1097/MD.0000000000047063
PMCID: PMC12795078

Genes

VPS13C

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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