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RESEARCH SUPPORT, U.S. GOV'T, NON-P.H.S.
RESEARCH SUPPORT, U.S. GOV'T, P.H.S.
Familial degeneration of the basal ganglia with acanthocytosis: a clinical, neuropathological, and neurochemical study.
Annals of Neurology 1978 March
Three siblings, offspring of normal consanguineous parents, had a progressive neurological disorder characterized primarily by chorea and leading to death in the fourth or fifth decade. The most carefully studied patient had neither malabsorption nor absent serum beta-lipoprotein but did have erythrocyte acanthocytosis. Postmortem examination showed marked neuronal loss and gliosis of the caudate nucleus and putamen. Activities of glutamic acid decarboxylase and choline acetyltransferase were normal in cortex, caudate, and putamen. Autosomal recessive inheritance, acanthocytosis, and probable peripheral neuropathy help differentiate this disorder from Huntington's disease.
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