A Novel <i>VPS13A</i> Deletion in <i>VPS13A</i> Disease (Chorea-Acanthocytosis): A Case Report with Brief Literature Summary.

ABSTRACT: VPS13A disease is a rare, autosomal-recessive, neurodegenerative disorder characterized by involuntary movements, orofacial dystonia, seizures, psychiatric symptoms, and the presence of spiky, deformed red blood cells (acanthocytes). The disease is caused by mutations in the VPS13A gene, which encodes the VPS13A protein (previously known as chorein). This protein is a member of the family of bridge-like lipid transport proteins, involved in bulk lipid transfer between membranes and intracellular vesicle trafficking. We describe the case of a 37-year-old woman with gait instability, semi-flexed legs, and involuntary distal muscle movements. Genetic testing was performed using next-generation sequencing (NGS), followed by molecular analysis. Fibroblasts from the patient, her mo

SUBMITTER: Perrone B 

PROVIDER: S-EPMC12692054 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature