de novo MAPT mutation G335A causes severe brain atrophy, 3R and 4R PHF-tau pathology and early onset frontotemporal dementia-Reference-Cited by-同舟云学术

de novo MAPT mutation G335A causes severe brain atrophy, 3R and 4R PHF-tau pathology and early onset frontotemporal dementia

Published:2020-06-29 Issue:1 Volume:8 Page:
ISSN:2051-5960
Container-title:Acta Neuropathologica Communications
language:en
Short-container-title:acta neuropathol commun

Author:

Ando Kunie,Ferlini Lorenzo,Suain Valérie,Yilmaz Zehra,Mansour Salwa,Le Ber Isabelle,Bouchard Cécile,Leroy Karelle,Durr Alexandra,Clot Fabienne,Sarazin Marie,Bier Jean-Christophe,Brion Jean-Pierre^ORCID

Funder

Fonds De La Recherche Scientifique - FNRS

the Fund Aline (King Baudoin Foundation).

the Belgian Alzheimer Research Foundation

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Neurology (clinical),Pathology and Forensic Medicine

Link

https://link.springer.com/content/pdf/10.1186/s40478-020-00977-8.pdf

Reference10 articles.

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2. Brion JP, Hanger DP, Bruce MT, Couck AM, Flament-Durand J, Anderton BH (1991) Tau in Alzheimer neurofibrillary tangles. N- and C-terminal regions are differentially associated with paired helical filaments and the location of a putative abnormal phosphorylation site. Biochem J 273(Pt 1):127–133

3. Bronner IF, ter Meulen BC, Azmani A, Severijnen LA, Willemsen R, Kamphorst W et al (2005) Hereditary Pick's disease with the G272V tau mutation shows predominant three-repeat tau pathology. Brain 128:2645–2653

4. Greaves CV, Rohrer JD (2019) An update on genetic frontotemporal dementia. J Neurol 266:2075–2086

5. Hogg M, Grujic ZM, Baker M, Demirci S, Guillozet AL, Sweet AP et al (2003) The L266V tau mutation is associated with frontotemporal dementia and pick-like 3R and 4R tauopathy. Acta Neuropathol 106:323–336

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