Two pathologically confirmed cases of novel mutations in the MAPT gene causing frontotemporal dementia

MAPT mutations were the first discovered genetic cause of frontotemporal dementia (FTD) in 1998. Since that time, over 60 MAPT mutations have been identified, usually causing behavioral variant FTD and/or parkinsonism clinically. We describe 2 novel MAPT mutations, D252V and G389_I392del, each prese...

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Publicado no:Neurobiol Aging
Main Authors: Shafei, Rachelle, Woollacott, Ione O.C., Mummery, Catherine J., Bocchetta, Martina, Guerreiro, Rita, Bras, Jose, Warren, Jason D., Lashley, Tammaryn, Jaunmuktane, Zane, Rohrer, Jonathan D.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2020
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7082764/
https://ncbi.nlm.nih.gov/pubmed/31870644
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.neurobiolaging.2019.11.009
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