A pedigree of amyotrophic chorea with acanthocytosis
S. Kito, E. Itoga, Y. Hiroshige, N. Matsumoto and S. Miwa
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.
