Neurodegenerative disease phenotypes in carriers of MAPT p.A152T, a risk factor for frontotemporal dementia spectrum disorders and Alzheimer's disease

Recently, Coppola and colleagues demonstrated that a rare MAPT sequence variant, c.454G>A (p.A152T), significantly increases the risk of frontotemporal dementia (FTD) spectrum disorders and Alzheimer's disease (AD) in a screen of 15,369 subjects(1). We describe clinical features of 9 patient...

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Hauptverfasser: Lee, Suzee E., Tartaglia, Maria Carmela, Yener, Görsev, Genç, Sermin, Seeley, William W., Sanchez-Juan, Pascual, Moreno, Fermin, Mendez, Mario F., Klein, Eric, Rademakers, Rosa, de Munain, Adolfo López, 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, Miller, Bruce L.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2013
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3796183/
https://ncbi.nlm.nih.gov/pubmed/23518664
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/WAD.0b013e31828cc357
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