A pedigree of amyotrophic chorea with acanthocytosis.
Several pedigrees of which some members showed a clinical syndrome consisting of mental changes, choreatic involuntary movements, limb muscles atrophy, and acanthocytosis have been reported in the United States and the United Kingdom. Such a case and some of the family members who had such abnormalities as acanthocytosis, hypo-beta-lipoproteinemia, convulsions, and confusion was observed. Results of biochemical analysis of catecholamines and their metabolites in CSF and urine showed an elevated value of norepinephrine in CSF and increased urinary secretion of DOPAC. The authors propose to designate this syndrome an amyotrophic chorea with acanthocytosis.
D001264:Athetosis / Q000097:blood*; D002819:Chorea / Q000097:blood*; D003402:Creatine Kinase / Q000097:blood; D004913:Erythrocytes, Abnormal; D006801:Humans; D007770:L-Lactate Dehydrogenase / Q000097:blood; D008074:Lipoproteins / Q000097:blood; D008297:Male; D008875:Middle Aged; D009133:Muscular Atrophy / Q000097:blood; D009135:Muscular Diseases / Q000097:blood; D013577:Syndrome
D008074:Lipoproteins; D007770:L-Lactate Dehydrogenase; D003402:Creatine Kinase