Amyotrophic choreo-acanthocytosis: a new observation in southern Europe.
Amyotrophic choreo-acanthocytosis is a rare disease of adult onset characterized by dyskinesias, neurogenic muscular atrophy, erythrocytary acanthocytosis with normal serum lipoproteins and elevated levels of serum CPK. Presumably, this disorder is an autosomal recessively inherited trait. This disease has been described in Japanese, English, Finnish and Puerto Rican people. This is the first observation in the southern countries of Europe, in two members of a Calabrian family. The authors point out that amyotrophic features can occur several years before the appearance of the extrapyramidal disorders.
D000050:Acanthocytes / Q000648:ultrastructure; D000328:Adult; D002819:Chorea / Q000150:complications* / Q000235:genetics / Q000378:metabolism; D003402:Creatine Kinase / Q000378:metabolism; D004913:Erythrocytes, Abnormal / Q000648:ultrastructure; D005260:Female; D006801:Humans; D008297:Male; D008855:Microscopy, Electron, Scanning; D009069:Movement Disorders / Q000150:complications* / Q000235:genetics / Q000378:metabolism; D009133:Muscular Atrophy / Q000150:complications* / Q000235:genetics / Q000378:metabolism; D010375:Pedigree; D011086:Polycythemia / Q000150:complications* / Q000235:genetics / Q000378:metabolism; D013577:Syndrome
D003402:Creatine Kinase