Neuroacanthocytosis

Neuroacanthocytosis is a label applied to several genetic neurological conditions in which the blood contains misshapen, spiculated red blood cells called acanthocytes. The core neuroacanthocytosis syndromes, in which acanthocytes are a typical feature, are chorea acanthocytosis and McLeod syndrome. Acanthocytes are seen less frequently in other conditions, including Huntington disease-like syndrome 2 and pantothenate kinase-associated neurodegeneration. The syndromes are caused by a range of genetic mutations and produce a variety of clinical features, but they primarily produce neurodegeneration of the brain, specifically the basal ganglia. The diseases are hereditary but rare. This record is not medical advice.