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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
4
|
| pubmed:dateCreated |
1989-12-20
|
| pubmed:abstractText |
We report three siblings, offspring of normal consanguineous parents, with a progressive neurological illness that began in midlife and was characterized primarily by chorea and leading to death in the fourth decade. The proband had erythrocyte acanthocytosis with normal serum beta-lipoprotein. Biopsy of left gastrocnemius muscle showed neurogenic muscular atrophy. There was a decrease in the numbers of large myelinated axons of the sural nerve. Postmortem examination of two cases showed marked atrophy, neuronal loss and gliosis of the caudate nucleus and putamen. Autosomal recessive inheritance is likely in this family.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
|
| pubmed:month |
Nov
|
| pubmed:issn |
0317-1671
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
16
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
426-31
|
| pubmed:dateRevised |
2004-11-17
|
| pubmed:meshHeading |
pubmed-meshheading:2804805-Acanthocytes,
pubmed-meshheading:2804805-Adult,
pubmed-meshheading:2804805-Atrophy,
pubmed-meshheading:2804805-Chorea,
pubmed-meshheading:2804805-Erythrocytes, Abnormal,
pubmed-meshheading:2804805-Humans,
pubmed-meshheading:2804805-Male,
pubmed-meshheading:2804805-Nervous System Diseases,
pubmed-meshheading:2804805-Neuromuscular Diseases,
pubmed-meshheading:2804805-Pedigree,
pubmed-meshheading:2804805-Syndrome
|
| pubmed:year |
1989
|
| pubmed:articleTitle |
Chorea-acanthocytosis: report of a family and neuropathological study of two cases.
|
| pubmed:affiliation |
Department of Genetics, National Institute of Neurology and Neurosurgery, Mexico, D.F.
|
| pubmed:publicationType |
Journal Article
|