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Neurodegenerative Disease Phenotypes in Carriers of MAPT p.A152T, A Risk Factor for Frontotemporal Dementia Spectrum Disorders and Alzheimer Disease

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Neurodegenerative Disease Phenotypes in Carriers of MAPT p.A152T, A Risk Factor for Frontotemporal Dementia Spectrum Disorders and Alzheimer Disease.pdf (232.2Kb)
Author
Lee, Suzee E.
Tartaglia, Maria C.
Yener, Görsev
Genç, Sermin
Seeley, William W.
Sanchez-Juan, Pascual
Moreno, Fermin
Mendez, Mario F.
Klein, Eric
Rademakers, Rosa
Lopez de Munain, Adolfo
Combarros, Onofre
Kramer, Joel H.
Kenet, Robert O.
Boxer, Adam L.
Geschwind, Michael D.
Gorno-Tempini, Maria-Luisa
Karydas, Anna M.
Rabinovici, Gil D.
Coppola, Giovanni
Geschwind, Daniel H.
Miller, Bruce L.
Type
Article
Date
2013-12
Language
en_US
Metadata
Show full item record
Abstract
Recently, 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.
Subject
all cognitive disorders
dementia
Alzheimer disease
frontotemporal dementia
corticobasal degeneration
progressive supranuclear palsy
tüm bilişsel bozukluklar
bunaklık
Alzheimer hastalığı
frontotemporal demans
kortiküsobazal dejenerasyon
ilerleyici supranüklear felç
URI
http://hdl.handle.net/11413/1770
Collections
  • Makaleler / Articles [147]
  • Pubmed Publications [149]
  • Scopus Publications [724]
  • WoS Publications [1016]

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İstanbul Kültür University

Hakkında |Politika | Kütüphane | İletişim | Send Feedback | Admin

Istanbul Kültür University, Ataköy Campus E5 Karayolu Üzeri Bakırköy 34158, İstanbul / TURKEY
Copyright © İstanbul Kültür University

Creative Commons Lisansı
IKU Institutional Repository, Creative Commons Alıntı-GayriTicari-Türetilemez 4.0 Uluslararası Lisansı ile lisanslanmıştır.

Designed by  UNIREPOS