New Case of Spinocerebellar Ataxia, Autosomal Recessive 4, Due to VPS13D Variants

Int J Mol Sci. 2024 May 8;25(10):5127. doi: 10.3390/ijms25105127.


Movement disorders such as bradykinesia, tremor, dystonia, chorea, and myoclonus most often arise in several neurodegenerative diseases with basal ganglia and white matter involvement. While the pathophysiology of these disorders remains incompletely understood, dysfunction of the basal ganglia and related brain regions is often implicated. The VPS13D gene, part of the VPS13 family, has emerged as a crucial player in neurological pathology, implicated in diverse phenotypes ranging from movement disorders to Leigh syndrome. We present a clinical case of VPS13D-associated disease with two variants in the VPS13D gene in an adult female. This case contributes to our evolving understanding of VPS13D-related diseases and underscores the importance of genetic screening in diagnosing and managing such conditions.

Keywords: Leigh syndrome; VPS13D; mitochondrial dysfunction; spinocerebellar ataxia.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Female
  • Genes, Recessive
  • Humans
  • Mutation
  • Pedigree
  • Phenotype
  • Proteins
  • Spinocerebellar Ataxias* / congenital
  • Spinocerebellar Ataxias* / diagnosis
  • Spinocerebellar Ataxias* / genetics
  • Vesicular Transport Proteins / genetics


  • VPS13D protein, human
  • Vesicular Transport Proteins
  • Proteins

Grants and funding

This work was supported by The Ministry of Science and Higher Education of the Russian Federation (the Federal Scientific-technical program for genetic technologies development for 2019–2027, agreement N 075-15-2021-1061, RF 193021X0029).