Conditions / Genetic
choreaacanthocytosis
info · Genetic
A neuroacanthocytosis characterized by progressive neurodegeneration and red cell acanthocytosis, with onset in the third to fifth decade of life and has_material_basis_in homozygous or compound heterozygous mutation in the VPS13A gene, which encodes chorein,
A neuroacanthocytosis characterized by progressive neurodegeneration and red cell acanthocytosis, with onset in the third to fifth decade of life and has_material_basis_in homozygous or compound heterozygous mutation in the VPS13A gene, which encodes chorein, on chromosome 9q21.
Signs and symptoms
- Peripheral axonal neuropathy
- Caudate atrophy
- Hypotonia
- Acanthocytosis
- Bruxism
- Dysphagia
- Lateral ventricle dilatation
- Orofacial dyskinesia
- Dysarthria
- Chorea
Also known as: Levine-Critchley syndrome; choreo-acanthocytosis