Linked Life Data

8780102

Source:http://linkedlifedata.com/resource/pubmed/id/8780102

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1996-12-23
pubmed:abstractText
Four kindreds of east Arnhem Land Australian aboriginal people from Groote Eylandt and adjacent communities display symptoms of a similar spinocerebellar degeneration (multiple-system degenerative disease). The familial pattern indicates an autosomal dominant inheritance, though with varying penetrance in different families. This condition is clinically and pathologically consistent with Machado-Joseph disease (MJD), and there is the possibility of Portuguese ancestry. These families exhibit anticipation, particularly in the case of paternal inheritance, with those with earlier age of onset presenting a clinical pattern consistent with MJD type I. There was no expansion of the CAG repeat region of the SCA1 gene in these families. The demonstration of expansion of the CAG repeat on chromosome 14q32.1 in all four families confirms the diagnosis of MJD.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
0028-3878
pubmed:author
pubmed:issnType
Print
pubmed:volume
46
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1118-22
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1996
pubmed:articleTitle
Machado-Joseph disease in east Arnhem Land, Australia: chromosome 14q32.1 expanded repeat confirmed in four families.
pubmed:affiliation
Menzies School of Health Research, Darwin, Australia.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't