Linked Life Data

15178932

Source:http://linkedlifedata.com/resource/pubmed/id/15178932

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2004-6-4
pubmed:abstractText
Hereditary frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) caused by mutations in the tau gene shows a wide range in age at onset, several distinct clinical presentations, and a spectrum of tau pathology. Although the clinical and pathological phenotype often correlate with the location of the mutation, there also exists considerable interfamilial and intrafamilial phenotypical variation. Not all families with FTDP-17 do have mutations and deposition of hyperphosphorylated tau in the brain, but show ubiquitin-positive, tau-negative inclusions. Future research should focus on the role of other genetic and environmental factors in this form of FTDP-17, whereas the responsible gene defect(s) has still to be identified for hereditary FTD without tau mutations.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
1420-8008
pubmed:author
pubmed:copyrightInfo
Copyright 2004 S. Karger AG, Basel
pubmed:issnType
Print
pubmed:volume
17
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
261-4
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed:year
2004
pubmed:articleTitle
Phenotypic variation in frontotemporal dementia and parkinsonism linked to chromosome 17.
pubmed:affiliation
Department of Neurology, Erasmus Medical Center, Rotterdam, The Netherlands. j.c.vanswieten@erasmusmc.nl
pubmed:publicationType
Journal Article, Review