Heterozygous VPS13A and PARK2 Mutations in a Patient with Parkinsonism and Seizures

Steven D. Mitchell, Roger L. Albin, William T. Dauer, John L. Goudreau, Christos Sidiropoulos

Research output: Contribution to journalArticlepeer-review

Abstract

Neuroacanthocytosis (NA) is a diverse group of disorders in which nervous system abnormalities co-occur with irregularly shaped red blood cells called acanthocytes. Chorea-acanthocytosis is the most common of these syndromes and is an autosomal recessive disease caused by mutations in the vacuolar protein sorting 13A (VPS13A) gene. We report a case of early onset parkinsonism and seizures in a 43-year-old male with a family history of NA. Neurologic examinations showed cognitive impairment and marked parkinsonian signs. MRI showed bilateral basal ganglia gliosis. He was found to have a novel heterozygous mutation in the VPS13A gene, in addition a heterozygous mutation in the PARK2 gene. His clinical picture was atypical for typical chorea-acanthocytosis (ChAc). The compound heterozygous mutations of VPS13A and PARK2 provide the most plausible explanation for this patient's clinical symptoms. This case adds to the phenotypic diversity of ChAc. More research is needed to fully understand the roles of epistatic interactions on phenotypic expression of neurodegenerative diseases.

Original languageEnglish (US)
Pages (from-to)341-346
Number of pages6
JournalCase Reports in Neurology
Volume13
Issue number2
DOIs
StatePublished - Jun 11 2021

Keywords

  • Chorea-acanthocytosis
  • Neuroacanthocytosis
  • PARK2
  • Parkinsonism
  • Vacuolar protein sorting 13A

ASJC Scopus subject areas

  • Clinical Neurology

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