An Autopsy Series of Seven Cases of VPS13A Disease (Chorea-Acanthocytosis).

ABSTRACT:

Background

Vacuolar protein sorting 13 homolog A (VPS13A) disease, historically known as chorea-acanthocytosis, is a rare neurodegenerative disorder caused by biallelic mutations in VPS13A, usually resulting in reduced or absent levels of its protein product, VPS13A. VPS13A localizes to contact sites between subcellular organelles, consistent with its recently identified role in lipid transfer between membranes. Mutations are associated with neuronal loss in the striatum, most prominently in the caudate nucleus, and associated marked astrogliosis. There are no other known disease-specific cellular changes (eg, protein aggregation), but autopsy reports to date have been limited, often lacking genetic or biochemical diagnostic confirmation.

Objective

The goal of this study was

SUBMITTER: Ditzel RM 

PROVIDER: S-EPMC10841393 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature