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 inheritance. The objectives of the study were to determine the genetic etiology of a patient with early onset sporadic progressive spastic ataxia, and to investigate the pathogenicity of VPS13D variants through functional studies on patient's skin fibroblasts.

Case presentation

We report the case of a 51-year-old patient with spastic ataxia, with an acute onset of the disease at age 7. Walking difficulties slowly worsened over time, with the use of a wheelchair since age 26. We have used trio-based

SUBMITTER: Durand CM 

PROVIDER: S-EPMC8840315 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature