Neuroacanthocytosis

**Definition:** An inherited autosomal disorder that is characterized by neurodegeneration; orofacial and buccal DYSKINESIAS; CHOREA; and thorny-looking red cells (ACANTHOCYTES). This disorder is due to mutations of chorein which is important in protein trafficking and is encoded by Vps13a on chromosome 9q21.

**Tree numbers:** - C10.228.662.262.249.937 - C16.320.400.550

**Synonyms:** - Chorea Acanthocytosis - Chorea Acanthocytosis Syndrome - Chorea-Acanthocytosis - Choreoacanthocytosis - Levine-Critchley Syndrome - Acanthocytosis with Neurologic Disorder