Chorea-Acanthocytosis

Chorea-Acanthocytosis

Chorea-acanthocytosis is a rare hereditary neurodegenerative disorder characterised by involuntary choreiform movements and red blood cells with thorn-like spicules (acanthocytes). Symptoms often emerge in early adulthood, affecting motor functions, cognitive abilities, and behaviour. Chorea-acanthocytosis is associated with mutations in the VPS13A gene, leading to progressive physical and neurological decline.