Linked Life Data

12574945

Source:http://linkedlifedata.com/resource/pubmed/id/12574945

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2003-2-7
pubmed:abstractText
Trinucleotide expansions in the gene for the TATA-binding protein (TBP) have recently been described in cerebellar ataxia associated with dementia, pyramidal tract and basal ganglia symptoms. Expansions above 45 repeat units are commonly considered pathological, causing SCA17. Here, we present a German kindred with four siblings affected by cerebellar ataxia, chorea and dementia. Molecular genetic analysis yielded an expanded SCA17 allele coding for 48 glutamine residues that was transmitted from the mother to all of her six children. Apparently, the expanded allele does not cosegregate with the disease phenotype since the mother and two of the siblings do not show any clinical abnormality. This appears to be the first description of non-penetrance in SCA17.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
0340-5354
pubmed:author
pubmed:issnType
Print
pubmed:volume
250
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
161-3
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
2003
pubmed:articleTitle
Phenotypical variability of expanded alleles in the TATA-binding protein gene. Reduced penetrance in SCA17?
pubmed:affiliation
Institute of Human Genetics, University of Lübeck, Ratzeburger Allee 160, 23538 Lübeck, Germany. zuehlke@medinf.mu-luebeck.de
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't