TY - JOUR
T1 - Neurodegenerative disease phenotypes in carriers of MAPT P.A152T, a risk factor for frontotemporal dementia spectrum disorders and alzheimer disease
AU - Lee, Suzee E.
AU - Tartaglia, Maria C.
AU - Yener, Görsev
AU - Genç, Sermin
AU - Seeley, William W.
AU - Sanchez-Juan, Pascual
AU - Moreno, Fermin
AU - Mendez, Mario F.
AU - Klein, Eric
AU - Rademakers, Rosa
AU - Munain, Adolfo López De
AU - Combarros, Onofre
AU - Kramer, Joel H.
AU - Kenet, Robert O.
AU - Boxer, Adam L.
AU - Geschwind, Michael D.
AU - Gorno-Tempini, Maria Luisa
AU - Karydas, Anna M.
AU - Rabinovici, Gil D.
AU - Coppola, Giovanni
AU - Geschwind, Daniel H.
AU - Miller, Bruce L.
PY - 2013/10
Y1 - 2013/10
N2 - 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.
AB - 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.
KW - Alzheimer disease
KW - all cognitive disorders/dementia
KW - corticobasal degeneration
KW - frontotemporal dementia
KW - progressive supranuclear palsy
UR - http://www.scopus.com/inward/record.url?scp=84888132252&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84888132252&partnerID=8YFLogxK
U2 - 10.1097/WAD.0b013e31828cc357
DO - 10.1097/WAD.0b013e31828cc357
M3 - Article
C2 - 23518664
AN - SCOPUS:84888132252
SN - 0893-0341
VL - 27
SP - 302
EP - 309
JO - Alzheimer disease and associated disorders
JF - Alzheimer disease and associated disorders
IS - 4
ER -