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

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

Abstract 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 inheritan...

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Bibliographic Details
Main Authors: Christelle M. Durand, Chloé Angelini, Vincent Michaud, Claire Delleci, Isabelle Coupry, Cyril Goizet, Aurelien Trimouille
Format: Article
Language:English
Published: BMC 2022-02-01
Series:BMC Neurology
Subjects:
Spastic ataxia
VPS13D
Whole exome sequencing
Mitochondrial network
Online Access:https://doi.org/10.1186/s12883-022-02553-0

Internet

https://doi.org/10.1186/s12883-022-02553-0

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