|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
3
|
|
pubmed:dateCreated |
1995-3-24
|
|
pubmed:abstractText |
Dentato-rubro-pallido-luysian atrophy (DR-PLA) is considered to be rare in Europe. We describe a Danish family in which affected individuals in at least three generations have been diagnosed as suffering from Huntington's disease. Because analysis of the Huntingtin gene revealed normal alleles and various of the patients had seizures, we analysed the B37 gene and found significantly elongated CAG repeats as have been reported in DRPLA. Affected individuals with almost identical repeat lengths presented very different symptoms. Both expansion and contraction in paternal transmission was encountered.
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Mar
|
|
pubmed:issn |
0340-6717
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
95
|
|
pubmed:geneSymbol |
B37
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
313-8
|
|
pubmed:dateRevised |
2006-11-15
|
|
pubmed:meshHeading |
pubmed-meshheading:7868125-Adult,
pubmed-meshheading:7868125-Chromosomes, Human, Pair 12,
pubmed-meshheading:7868125-DNA,
pubmed-meshheading:7868125-Dementia,
pubmed-meshheading:7868125-Denmark,
pubmed-meshheading:7868125-Diagnosis, Differential,
pubmed-meshheading:7868125-Epilepsies, Myoclonic,
pubmed-meshheading:7868125-Female,
pubmed-meshheading:7868125-Genes, Dominant,
pubmed-meshheading:7868125-Genomic Imprinting,
pubmed-meshheading:7868125-Humans,
pubmed-meshheading:7868125-Huntington Disease,
pubmed-meshheading:7868125-Male,
pubmed-meshheading:7868125-Middle Aged,
pubmed-meshheading:7868125-Minisatellite Repeats,
pubmed-meshheading:7868125-Movement Disorders,
pubmed-meshheading:7868125-Pedigree,
pubmed-meshheading:7868125-Spinocerebellar Degenerations
|
|
pubmed:year |
1995
|
|
pubmed:articleTitle |
Elongated CAG repeats of the B37 gene in a Danish family with dentato-rubro-pallido-luysian atrophy.
|
|
pubmed:affiliation |
Institute of Medical Biochemistry and Genetics, University of Copenhagen, Denmark.
|
|
pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
|
