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Neuroacanthocytosis syndromes form a genetically heterogeneous group of disorders characterized by the association of neurological abnormalities with acanthocyte. This chapter describes both chorea-acanthocytosis (ChAc) and McLeod syndrome. In the majority of ChAc families, the disease is inherited as an autosomal recessive trait, and is caused by mutations in the VPS13A gene on chromosome 9q21, encoding for chorein. McLeod syndrome is caused by mutations of the XK gene encoding the XK protein which carries the Kx red blood cell antigen. The diagnosis of ChAc is confirmed by the detection of two mutations in the VPS13A gene. The treatment of epilepsy in patients with ChAc or McLeod syndrome represents a challenge, since seizures may at times be intractable and some antiepileptic drugs may worsen the involuntary movements. Cardiovascular events, seizures and aspiration pneumonia are the major causes of death in the older McLeod patients.
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