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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
3
|
| pubmed:dateCreated |
1995-4-4
|
| pubmed:abstractText |
Autosomal dominant ataxias are a genetically heterogeneous group of disorders for which spinocerebellar ataxia (SCA) loci on chromosomes 6p, 12q, 14q and 16q have been reported. We have examined 170 individuals (56 of whom were affected) from a previously unreported ten-generation kindred with a dominant ataxia that is clinically and genetically distinct from those previously mapped. The family has two major branches which both descend from the paternal grandparents of President Abraham Lincoln. Among those examined, 56 individuals have a generally non-life threatening cerebellar ataxia. Disease onset varies from 10-68 years and anticipation is evident. We have mapped this gene, spinocerebellar ataxia type 5 (SCA5), to the centromeric region of chromosome 11.
|
| pubmed:commentsCorrections | |
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
|
| pubmed:month |
Nov
|
| pubmed:issn |
1061-4036
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
8
|
| pubmed:geneSymbol |
SCA5
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
280-4
|
| pubmed:dateRevised |
2009-10-22
|
| pubmed:meshHeading |
pubmed-meshheading:7874171-Adolescent,
pubmed-meshheading:7874171-Adult,
pubmed-meshheading:7874171-Age of Onset,
pubmed-meshheading:7874171-Aged,
pubmed-meshheading:7874171-Child,
pubmed-meshheading:7874171-Chromosome Mapping,
pubmed-meshheading:7874171-Chromosomes, Human, Pair 11,
pubmed-meshheading:7874171-Famous Persons,
pubmed-meshheading:7874171-Female,
pubmed-meshheading:7874171-Genes, Dominant,
pubmed-meshheading:7874171-Haplotypes,
pubmed-meshheading:7874171-History, 18th Century,
pubmed-meshheading:7874171-Humans,
pubmed-meshheading:7874171-Lod Score,
pubmed-meshheading:7874171-Male,
pubmed-meshheading:7874171-Middle Aged,
pubmed-meshheading:7874171-Minisatellite Repeats,
pubmed-meshheading:7874171-Pedigree,
pubmed-meshheading:7874171-Spinocerebellar Degenerations
|
| pubmed:year |
1994
|
| pubmed:articleTitle |
Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11.
|
| pubmed:affiliation |
Department of Neurology, University of Minnesota, Minneapolis 55455.
|
| pubmed:publicationType |
Journal Article,
Biography,
Research Support, U.S. Gov't, P.H.S.,
Historical Article,
Research Support, Non-U.S. Gov't
|