Neurodegenerative Disease Phenotypes in Carriers of MAPT p.A152T, A Risk Factor for Frontotemporal Dementia Spectrum Disorders and Alzheimer Disease
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
Date
2013-12Language
en_USMetadata
Show full item recordAbstract
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.
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