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Article

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

Neurobiology of aging - 1 Mar 2020

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

Abstract excerpt

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 presenting in a patient with behavioral variant FTD and associated language and cognitive deficits. Neuroimaging revealed...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 31870644
DOI: 10.1016/j.neurobiolaging.2019.11.009
PMCID: PMC7082764

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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