Linked Life Data

8088802

Source:http://linkedlifedata.com/resource/pubmed/id/8088802

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1994-10-19
pubmed:abstractText
The autosomal dominantly inherited spinocerebellar ataxias (SCAs) are a heterogeneous group of disorders. To date, three loci have been identified: the SCA1 locus (on chr 6p), the SCA2 locus (on chr 12q), and more recently a Machado-Joseph disease (MJD) locus (on chr 14q). We have studied one large French-Canadian kindred with four generations of living affected individuals segregating an autosomal dominant form of SCA. Linkage analysis using anonymous DNA markers that flank the three previously described loci significantly exclude the French-Canadian kindred from the SCA1, SCA2, and MJD loci. Therefore, a fourth, still unmapped SCA locus remains to be identified. In addition, the unique clinical phenotype present in all affected individuals of the French-Canadian kindred might be characteristic of this still unmapped SCA locus.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
0888-7543
pubmed:author
pubmed:issnType
Print
pubmed:day
1
pubmed:volume
21
pubmed:geneSymbol
MJD, SCA1, SCA2
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
270-4
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1994
pubmed:articleTitle
Evidence for the existence of a fourth dominantly inherited spinocerebellar ataxia locus.
pubmed:affiliation
Centre for Research in Neuroscience, Montreal Neurological Institute and Hospital, Quebec, Canada.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't