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dc.contributor.authorLee, Suzee E.
dc.contributor.authorTartaglia, Maria C.
dc.contributor.authorYener, Görsev
dc.contributor.authorGenç, Sermin
dc.contributor.authorSeeley, William W.
dc.contributor.authorSanchez-Juan, Pascual
dc.contributor.authorMoreno, Fermin
dc.contributor.authorMendez, Mario F.
dc.contributor.authorKlein, Eric
dc.contributor.authorRademakers, Rosa
dc.contributor.authorLopez de Munain, Adolfo
dc.contributor.authorCombarros, Onofre
dc.contributor.authorKramer, Joel H.
dc.contributor.authorKenet, Robert O.
dc.contributor.authorBoxer, Adam L.
dc.contributor.authorGeschwind, Michael D.
dc.contributor.authorGorno-Tempini, Maria-Luisa
dc.contributor.authorKarydas, Anna M.
dc.contributor.authorRabinovici, Gil D.
dc.contributor.authorCoppola, Giovanni
dc.contributor.authorGeschwind, Daniel H.
dc.contributor.authorMiller, Bruce L.
dc.date.accessioned2017-10-23T11:39:23Z
dc.date.available2017-10-23T11:39:23Z
dc.date.issued2013-12
dc.identifier.issn0893-0341
dc.identifier.urihttp://hdl.handle.net/11413/1770
dc.description.abstractRecently, Coppola and colleagues demonstrated that a rare microtubule-associated protein tau (MAPT) sequence variant, c.454G>A (p.A152T) significantly increases the risk of frontotemporal dementia (FTD) spectrum disorders and Alzheimer disease (AD) in a screen of 15,369 subjects. We describe clinical features of 9 patients with neurodegenerative disease (4 women) harboring p.A152T, aged 51 to 79 years at symptom onset. Seven developed FTD spectrum clinical syndromes, including progressive supranuclear palsy syndrome (n=2), behavioral variant FTD (bvFTD, n=1), nonfluent variant primary progressive aphasia (nfvPPA, n=2), and corticobasal syndrome (n=2); 2 patients were diagnosed with clinical AD. Thus, MAPT p.A152T is associated with a variety of FTD spectrum clinical presentations, although patients with clinical AD are also identified. These data warrant larger studies with clinicopathologic correlation to elucidate the influence of this genetic variant on neurodegenerative disease.tr_TR
dc.language.isoen_UStr_TR
dc.publisherLippincott Williams & Wilkins, 530 Walnut St, Philadelphia, Pa 19106-3621 USAtr_TR
dc.relationAlzheimer Disease & Associated Disorderstr_TR
dc.subjectall cognitive disorderstr_TR
dc.subjectdementiatr_TR
dc.subjectAlzheimer diseasetr_TR
dc.subjectfrontotemporal dementiatr_TR
dc.subjectcorticobasal degenerationtr_TR
dc.subjectprogressive supranuclear palsytr_TR
dc.subjecttüm bilişsel bozukluklartr_TR
dc.subjectbunaklıktr_TR
dc.subjectAlzheimer hastalığıtr_TR
dc.subjectfrontotemporal demanstr_TR
dc.subjectkortiküsobazal dejenerasyontr_TR
dc.subjectilerleyici supranüklear felçtr_TR
dc.titleNeurodegenerative Disease Phenotypes in Carriers of MAPT p.A152T, A Risk Factor for Frontotemporal Dementia Spectrum Disorders and Alzheimer Diseasetr_TR
dc.typeArticletr_TR
dc.contributor.authorID143760tr_TR
dc.contributor.authorID2453tr_TR
dc.identifier.wos327742800002
dc.identifier.wos327742800002en
dc.identifier.scopus2-s2.0-84888132252
dc.identifier.scopus2-s2.0-84888132252en
dc.identifier.pubmed23518664
dc.identifier.pubmed23518664en


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