| pubmed-article:20490813 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:20490813 | lifeskim:mentions | umls-concept:C0680220 | lld:lifeskim |
| pubmed-article:20490813 | lifeskim:mentions | umls-concept:C0030664 | lld:lifeskim |
| pubmed-article:20490813 | lifeskim:mentions | umls-concept:C0751072 | lld:lifeskim |
| pubmed-article:20490813 | lifeskim:mentions | umls-concept:C1414860 | lld:lifeskim |
| pubmed-article:20490813 | pubmed:issue | 1 | lld:pubmed |
| pubmed-article:20490813 | pubmed:dateCreated | 2010-6-21 | lld:pubmed |
| pubmed-article:20490813 | pubmed:abstractText | Through an international consortium, we have collected 37 tau- and TAR DNA-binding protein 43 (TDP-43)-negative frontotemporal lobar degeneration (FTLD) cases, and present here the first comprehensive analysis of these cases in terms of neuropathology, genetics, demographics and clinical data. 92% (34/37) had fused in sarcoma (FUS) protein pathology, indicating that FTLD-FUS is an important FTLD subtype. This FTLD-FUS collection specifically focussed on aFTLD-U cases, one of three recently defined subtypes of FTLD-FUS. The aFTLD-U subtype of FTLD-FUS is characterised clinically by behavioural variant frontotemporal dementia (bvFTD) and has a particularly young age of onset with a mean of 41 years. Further, this subtype had a high prevalence of psychotic symptoms (36% of cases) and low prevalence of motor symptoms (3% of cases). We did not find FUS mutations in any aFTLD-U case. To date, the only subtype of cases reported to have ubiquitin-positive but tau-, TDP-43- and FUS-negative pathology, termed FTLD-UPS, is the result of charged multivesicular body protein 2B gene (CHMP2B) mutation. We identified three FTLD-UPS cases, which are negative for CHMP2B mutation, suggesting that the full complement of FTLD pathologies is yet to be elucidated. | lld:pubmed |
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| pubmed-article:20490813 | pubmed:language | eng | lld:pubmed |
| pubmed-article:20490813 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:20490813 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:20490813 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:20490813 | pubmed:month | Jul | lld:pubmed |
| pubmed-article:20490813 | pubmed:issn | 1432-0533 | lld:pubmed |
| pubmed-article:20490813 | pubmed:author | pubmed-author:MillerBruce... | lld:pubmed |
| pubmed-article:20490813 | pubmed:author | pubmed-author:WeinerMyron... | lld:pubmed |
| pubmed-article:20490813 | pubmed:author | pubmed-author:DicksonDennis... | lld:pubmed |
| pubmed-article:20490813 | pubmed:author | pubmed-author:HallidayGlend... | lld:pubmed |
| pubmed-article:20490813 | pubmed:author | pubmed-author:TrojanowskiJo... | lld:pubmed |
| pubmed-article:20490813 | pubmed:author | pubmed-author:ParisiJoseph... | lld:pubmed |
| pubmed-article:20490813 | pubmed:author | pubmed-author:MunozDavid... | lld:pubmed |
| pubmed-article:20490813 | pubmed:author | pubmed-author:PetersenRonal... | lld:pubmed |
| pubmed-article:20490813 | pubmed:author | pubmed-author:Van... | lld:pubmed |
| pubmed-article:20490813 | pubmed:author | pubmed-author:FisherElizabe... | lld:pubmed |
| pubmed-article:20490813 | pubmed:author | pubmed-author:HoltonJanice... | lld:pubmed |
| pubmed-article:20490813 | pubmed:author | pubmed-author:ReveszTamasT | lld:pubmed |
| pubmed-article:20490813 | pubmed:author | pubmed-author:KrilJillian... | lld:pubmed |
| pubmed-article:20490813 | pubmed:author | pubmed-author:RossorMartin... | lld:pubmed |
