Chorea-Acanthocytosis (Neuroacanthocytosis; CHAC)

Overview

● Epidemiology: Especially common in Japan Genetics: Mutations Japanese: Frameshift 260-BP deletion Other: Missense & Nonsense VPS13A Protein Expression: Many tissues Function: Lipid droplet-ER contact; ? Protein sorting Other VPS13 protein disorders VPS13B : Cohen syndrome 1 (COH1) VPS13C : Parkinson disease 23 VPS13D : Movement disorder & Spastic ataxia, Childhood onset Clinical Onset: 3rd to 5th decade; Mean 32 years; Range 8 to 62 years CNS Movement disorders Oro-facial-lingual dyskinesia Chorea Limbs, especially legs Frequent but not all patients Parkinsonism Cortical: Dementia; Personali

OMIM Entries

Related Conditions

External Resources