Acanthocytosis and neurological disorders

Acanthocytosis occurs because of ultrastructural abnormalities of the eryth rocyte membranous skeleton resulting in reduced membrane fluidity. At least three hereditary neurological conditions are associated with it, although as yet the pathogenesis of the neurological features is unknown. In abetali poproteinaemia, an autosomal recessive condition, vitamin E deficiency resu lts in a progressive spinocerebellar syndrome associated with peripheral ne uropathy and retinitis pigmentosa. Neuroacanthocytosis is also probably an autosomal recessive condition and is characterised by chorea, orofaciolingu al dyskinesia, dysarthria, areflexia, seizures and dementia. McLeod syndrom e is an X-linked recessive disorder usually presenting in males as a benign myopathy with areflexia, in association with a particular abnormality of e xpression of Kell blood group antigens. However, occasionally the neurologi cal features are more severe and indistinguishable from those of neuroacant hocytosis. Recent advances in molecular genetics may assist better understa nding of the disease mechanisms and the search for more effective treatment s.