Chorea-acanthocytosis. Neurological disease with acanthocytosis.
A case of chorea-acanthocytosis (CA) syndrome is described. CA is a rare, inherited syndrome characterized by normolipoproteinemic acanthocytosis and progressive neurological disturbances (orofacial dyskinesia, limb chorea, lip and tongue biting, distal muscle wasting, muscle hypotonia, absent or diminished tendon reflexes) with adult onset. Thus far, 10 independent reports of CA have been published. The present case is the first patient reported in Europe outside Great Britain. Due to obvious clinical similarities between CA and Huntington's chorea, particular attention is drawn to the differential diagnosis between these 2 syndromes. Investigation of the red blood cell morphology should necessarily be performed in the examination of choreic patients, particularly when the disorder is familial.
D000012:Abetalipoproteinemia / Q000175:diagnosis* / Q000235:genetics; D000050:Acanthocytes; D000328:Adult; D002819:Chorea / Q000175:diagnosis* / Q000235:genetics; D004913:Erythrocytes, Abnormal; D005260:Female; D005387:Finland; D006801:Humans