Choreoacanthocytosis. Clues to clinical diagnosis.
Acanthocytosis, tongue-biting, denervation of the peripheral nerves, and increased levels of serum creatine phosphokinase were common in four cases, three familial and one sporadic, of choreoacanthocytosis, but were not seen in eight cases of Huntington's disease. Mental deterioration was minor and serum beta-lipoprotein levels were normal in this syndrome. Autosomal recessive inheritance is likely in choreoacanthocytosis, if it is a genetic disease.
D000050:Acanthocytes; D000328:Adult; D002819:Chorea / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D003402:Creatine Kinase / Q000097:blood; D003937:Diagnosis, Differential; D004913:Erythrocytes, Abnormal; D005260:Female; D006801:Humans; D006816:Huntington Disease / Q000175:diagnosis*; D008297:Male; D008875:Middle Aged; D010808:Physical Examination; D013577:Syndrome
D003402:Creatine Kinase