Linked Life Data

666266

Source:http://linkedlifedata.com/resource/pubmed/id/666266

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1978-8-14
pubmed:abstractText
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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
0364-5134
pubmed:author
pubmed:issnType
Print
pubmed:volume
3
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
253-8
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1978
pubmed:articleTitle
Familial degeneration of the basal ganglia with acanthocytosis: a clinical, neuropathological, and neurochemical study.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, U.S. Gov't, Non-P.H.S., Case Reports