Neuroacanthocytosis
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.
Year introduced: 2008 (2000)
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Subheadings:
Tree Number(s): C10.228.662.262.249.937, C16.320.400.550
MeSH Unique ID: D054546
Entry Terms:
- Chorea Acanthocytosis
- Acanthocytoses, Chorea
- Acanthocytosis, Chorea
- Chorea Acanthocytoses
- Chorea Acanthocytosis Syndrome
- Chorea Acanthocytosis Syndromes
- Chorea-Acanthocytosis
- Chorea-Acanthocytoses
- Choreoacanthocytosis
- Choreoacanthocytoses
- Levine-Critchley Syndrome
- Levine Critchley Syndrome
- Acanthocytosis with Neurologic Disorder
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