Novel P397S MAPT variant associated with late onset and slow progressive frontotemporal dementia

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• dc.contributor.author Borrego-Ecija, Sergi
• dc.contributor.author Antonell Boixader, Anna
• dc.contributor.author Puig-Butille, Joan Anton
• dc.contributor.author Pericot, Inmaculada
• dc.contributor.author Prat-Bravo, Carme
• dc.contributor.author Abellan-Vidal, María Teresa
• dc.contributor.author Mallada, Javier
• dc.contributor.author Olives, Jaume
• dc.contributor.author Falgas, Neus
• dc.contributor.author Oliva, Rafael
• dc.contributor.author Lladó, Albert
• dc.contributor.author Sanchez-Valle, Raquel
• dc.date.accessioned 2019-11-07T07:33:39Z
• dc.date.available 2019-11-07T07:33:39Z
• dc.date.issued 2019
• dc.description.abstract Mutations in the MAPT gene cause frontotemporal dementia with tau deposits. We report the novel p.P397S MAPT variant in eight subjects from five apparently nonrelated families suffering from frontotemporal dementia with autosomal dominant pattern of inheritance. In silico analysis reported conflicting evidence of pathogenicity. The segregation analysis support that this variant is likely pathogenic. The mean age at onset (61.4 years) and mean disease duration (13.9 years) of these subjects and their affected relatives were significantly higher compared with our series of p.P301L MAPT mutation carriers. These findings suggest that p.P397S variant could be a new MAPT mutation associated with a less aggressive phenotype than other MAPT mutations.
• dc.format.mimetype application/pdf
• dc.identifier.citation Borrego-Écija S, Antonell A, Puig-Butillé JA, Pericot I, Prat-Bravo C, Abellan-Vidal MT. et al. Novel P397S MAPT variant associated with late onset and slow progressive frontotemporal dementia. Ann Clin Transl Neurol. 2019 Aug;6(8):1559-1565. DOI 10.1002/acn3.50844
• dc.identifier.doi http://dx.doi.org/10.1002/acn3.50844
• dc.identifier.issn 2328-9503
• dc.identifier.uri http://hdl.handle.net/10230/42770
• dc.language.iso eng
• dc.publisher American Neurological Association
• dc.rights Copyright © 2019 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals, Inc on behalf of American Neurological Association. This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
• dc.rights.accessRights info:eu-repo/semantics/openAccess
• dc.rights.uri http://creativecommons.org/licenses/by-nc-nd/4.0/
• dc.subject.other Genètica
• dc.subject.other Demència
• dc.title Novel P397S MAPT variant associated with late onset and slow progressive frontotemporal dementia
• dc.type info:eu-repo/semantics/article
• dc.type.version info:eu-repo/semantics/publishedVersion