Shafei, R;
Woollacott, IOC;
Mummery, CJ;
Bocchetta, M;
Guerreiro, R;
Bras, J;
Warren, JD;
... Rohrer, JD; + view all
(2019)
Two pathologically confirmed cases of novel mutations in the MAPT gene causing frontotemporal dementia.
Neurobiology of Aging
10.1016/j.neurobiolaging.2019.11.009.
(In press).
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Abstract
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 behavioural variant FTD (bvFTD) and/or parkinsonism clinically. We describe two novel MAPT mutations, D252V and G389_I392del, each presenting in a patient with bvFTD and associated language and cognitive deficits. Neuroimaging revealed asymmetrical left greater than right temporal lobe atrophy in the first case, and bifrontal atrophy in the second case. Disease duration was 8 years and 5 years respectively. Post mortem examination in both patients revealed a 3-repeat predominant tauopathy, similar in appearance to Pick's disease. These two mutations add to the literature on genetic FTD, both presenting with similar clinical and imaging features to previously described cases, and pathologically showing a primary tauopathy similar to a number of other MAPT mutations.
| Type: | Article |
|---|---|
| Title: | Two pathologically confirmed cases of novel mutations in the MAPT gene causing frontotemporal dementia |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1016/j.neurobiolaging.2019.11.009 |
| Publisher version: | https://doi.org/10.1016/j.neurobiolaging.2019.11.0... |
| Language: | English |
| Additional information: | This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ |
| Keywords: | tau,frontotemporal dementia, MAPT |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Movement Neurosciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Neurodegenerative Diseases |
| URI: | https://discovery-pp.ucl.ac.uk/id/eprint/10087298 |
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