VPS13A-related neurodegenerative disease
VPS13A-related neurodegenerative disease
Definition
A form of neuroacanthocytosis and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances, and caused by a variation in the VPS13A gene.
Also known as CHAC, chorea-acanthocytosis, choreoacanthocytosis, Levine-Critchley syndrome, VPS13A disease — per MONDO