Linked Life Data

18715271

Source:http://linkedlifedata.com/resource/pubmed/id/18715271

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2009-8-7
pubmed:abstractText
Mutations in the progranulin (PGRN) gene on chromosome 17 have been shown to be responsible for one non-tauopathy subtype of familial frontotemporal lobar degeneration - frontotemporal lobar degeneration with ubiquitinated, tau-negative inclusions (FTLD-U). Such cases have pathological similarities to sporadic cases with neuronal inclusions positive for ubiquitin, the ubiquitin binding protein, p62 and the newly recognised protein TDP-43 but negative for hyperphosphorylated (HP) tau. There has been a recent report on two families with a novel progranulin mutation where the neuropathology showed not only TDP-43 neuronal positivity but separate tau and/or alpha-synuclein pathology. We describe an unusual case with some family history but no mutation in the progranulin gene. The pathological features were typical for FTLD-U but with additional significant alpha-synuclein pathology, and unusual ubiquitin-positive, p62-positive, TDP-43-negative inclusions in the cerebellum. This case may represent a further pathological phenotype for familial FTLD-U. It also highlights the need for further investigations on the ubiquitin binding protein p62 as a marker in FTLD-U. It is certainly possible that the presence or absence of these ubiquitinated p62-positive yet TDP-43-negative cerebellar inclusions may act as a useful correlative factor in the future.
pubmed:commentsCorrections
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
1440-1789
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
29
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
466-71
pubmed:dateRevised
2010-5-17
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
Frontotemporal lobar degeneration with ubiquitinated tau-negative inclusions and additional alpha-synuclein pathology but also unusual cerebellar ubiquitinated p62-positive, TDP-43-negative inclusions.
pubmed:affiliation
Department of Clinical Neuropathology, King's College Hospital, London, UK. andrew.king@kch.nhs.uk
pubmed:publicationType
Journal Article, Case Reports