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Article

Whole-exome sequencing confirms implication of VPS13D as a potential cause of progressive spastic ataxia.

BMC neurology - 12 Feb 2022

Durand Christelle M, Angelini Chloé, Michaud Vincent, Delleci Claire, Coupry Isabelle, Goizet Cyril, Trimouille Aurelien

Abstract excerpt

BACKGROUND: VPS13D is a large ubiquitin-binding protein playing an essential role in mitophagy by regulating mitochondrial fission. Recently, VPS13D biallelic pathogenic variants have been reported in patients displaying variable neurological phenotypes, with an autosomic recessive inheritance. The objectives of the study were to determine the genetic etiology of a patient with early onset sporadic progressive...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35151251
DOI: 10.1186/s12883-022-02553-0
PMCID: PMC8840315

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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