Novel P397S MAPT variant associated with late onset and slow progressive frontotemporal dementia
Year: 2019
Type: article
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.
DOI: 10.1002/acn3.50844
Institutions: Consorci Institut D'Investigacions Biomediques August Pi I Sunyer, Universitat de Barcelona, Centre for Biomedical Network Research on Rare Diseases, Centro de Investigación Biomédica en Red, Hospital Clínic de Barcelona, Hospital Santa Caterina, Corporació Sanitària Parc Taulí, Parc de Salut, Hospital General de Elda
Language: English
Subfield: Cellular and Molecular Neuroscience
Field: Neuroscience
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $3,000
OpenAlex ID: W2962385508