Linked Life Data

20930271

Source:http://linkedlifedata.com/resource/pubmed/id/20930271

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2011-1-13
pubmed:abstractText
Frontotemporal lobar degeneration (FTLD) is a neurodegenerative disorder characterized by behavioural disturbances and cognitive decline. Here we describe an Italian family with FTLD showing remarkable phenotypic heterogeneity. Based on low plasma levels of progranulin, we analyzed the progranulin gene (GRN) in two patients with early onset and found the novel frame-shift mutation T278SfsX7. mRNA analysis confirmed the null effect of the mutation. The patients were homozygous for H1 MAPT haplotype, a disease modifier factor that can account for early age at onset. Being predictive for GRN null mutations, plasma progranulin dosage should be included in diagnostic work-up of dementia.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1875-8908
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
23
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
7-12
pubmed:dateRevised
2011-8-19
pubmed:meshHeading
pubmed:year
2011
pubmed:articleTitle
A novel progranulin mutation causing frontotemporal lobar degeneration with heterogeneous phenotypic expression.
pubmed:affiliation
Division of Neuropathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy. grossi@istituto-besta.it
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't