Linked Life Data

7655453

Source:http://linkedlifedata.com/resource/pubmed/id/7655453

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
1995-10-5
pubmed:abstractText
Autosomal dominant spinocerebellar ataxia (SCA) is a clinically and genetically heterogeneous neurodegenerative disorder which leads to progressive cerebellar ataxia. A gene responsible for SCA type 3 has been mapped to human chromosome 14q, close to the Machado-Joseph disease (MJD) locus. The MJD1 gene has recently been cloned and the disease causing mutation has been identified as an unstable and expanded (CAG)n trinucleotide repeat. As some clinical features of MJD overlap with those of SCA we investigated the MJD mutation in 38 German families with dominantly inherited SCA. The MJD1 (CAG)n expansion was identified in 19 families. In contrast, the trinucleotide expansion was not observed in 21 ataxia patients without family history of the disease. Analysis of the (CAG)n repeat length in 30 patients revealed an inverse correlation with the age of onset. The (CAG)n stretch of the affected allele varied between 67 and 78 trinucleotide units, the normal alleles carried between 12 and 28 simple repeats. These results demonstrate that the MJD mutation causes the disease phenotype of most SCA patients in Germany.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
0964-6906
pubmed:author
pubmed:issnType
Print
pubmed:volume
4
pubmed:geneSymbol
MJD1
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1001-5
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1995
pubmed:articleTitle
Trinucleotide expansion within the MJD1 gene presents clinically as spinocerebellar ataxia and occurs most frequently in German SCA patients.
pubmed:affiliation
Department of Neurology, St. Josef Hospital, Bochum, Germany.
pubmed:publicationType
Journal Article