期刊
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
卷 6, 期 8, 页码 1559-1565出版社
WILEY
DOI: 10.1002/acn3.50844
关键词
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资金
- Rio Hortega post-residency research grant from the Instituto de Salud Carlos III, Spain [CM18/00028]
- Fundacio la Marato de TV3 [20143810]
- Spanish Ministry of Economy and Competitiveness-Instituto de Salud Carlos III
- Fondo Europeo de Desarrollo Regional (FEDER), Union Europea, Una manera de hacer Europa [PI14/00282]
- Departament de Salut de la Generalitat de Catalunya [PERIS 2016-2020 SLT002/16/00329]
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.
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