Chorea-acanthocytosis

Also known as: Levine–Critchley syndrome (historical); VPS13A disease

Autosomal recessive neurodegeneration with acanthocytes.

Medical specialty: Neurology
Subspecialty: Neurology / Movement disorders; Neurogenetics
Sex & age distribution: Male: affected; Female: affected equally; Children: rare, onset 20s–30s
Gene(s) involved: VPS13A

Etiology & mechanism

Loss of chorein (VPS13A).

Gene(s) involved (1)

VPS13A

Symptoms & signs (6)

choreaelevated ckneuropathyorofacial dyskinesiaseizurestongue and lip biting

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