Linked Life Data

1266573

Source:http://linkedlifedata.com/resource/pubmed/id/1266573

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1976-7-6
pubmed:abstractText
Homocarnosine, the brain-specific dipeptide of gamma-aminobutyric acid (GABA) and histidine, was found to be elevated in the CSF, i.e. approximately 20 times the mean control level, in two brothers and one sister. All three were similarly afflicted, i.e. with a progressive spastic paraplegia, progressive mental deterioration and retinal pigmentation. A sister was healthy, and there was no other occurrence of similar symptoms in the family. The clinical symptoms in the affected individuals seem to differ from those in other reported families. The unaffected sister, the father and two maternal aunts exhibited a normal CSF homocarnosine level, whereas the mother, who showed no definite clinical symptoms, showed a markedly elevated CSF homocarnosine level. The explanation for the latter finding remains obscure.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
0001-6314
pubmed:author
pubmed:issnType
Print
pubmed:volume
53
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
275-90
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed:year
1976
pubmed:articleTitle
Homocarnosinosis. 2. A familial metabolic disorder associated with spastic paraplegia, progressive mental deficiency, and retinal pigmentation.
pubmed:publicationType
Journal Article, Case Reports