A unique common ancestor introduced P301L mutation in MAPT gene in frontotemporal dementia patients from Barcelona (Baix Llobregat, Spain)

Leire Palencia-Madrid, Raquel Sánchez-Valle, Ierai Fernández de Retana, Sergi Borrego, Oriol Grau-Rivera, Ramón Reñé, Isabel Hernández, Consuelo Almenar, Giacomina Rossi, Paola Caroppo, Veronica Redaelli, Isabelle Le Ber, Agnès Camuzat, Alexis Brice, Anna Antonell, Mircea Balasa, Ellen Gelpi, Albert Lladó, Marian M. de Pancorbo

Research output: Contribution to journalArticle

Abstract

The County of Baix Llobregat (Barcelona, Catalonia, Spain) presents a high prevalence of familial frontotemporal dementia (FTD) in the presence of P301L mutation in the MAPT gene. To evaluate a possible unique founder effect of P301L, and its age, the analysis of 20 single-nucleotide polymorphisms covering 50 kb and 12 single-nucleotide polymorphisms located along 30 Mb around the mutation was performed by developing 2 multiplex single-base extension reactions. In addition, families with affected and healthy individuals from France and Italy were analyzed. The FTD-affected individuals from Barcelona carried the same 50-kb haplotype linked to P301L mutation, suggesting a unique common ancestor, as opposed to French patients. Italian patients are also probably descendants of a unique ancestor, which would be different from that of Barcelona. Diversity of 30-Mb haplotypes found in Barcelona and the inference of the mutation age in these populations, among other reasons, suggest that prevalence of FTD linked to P301L MAPT mutation is the result of a locally originated mutation.

Original languageEnglish
Pages (from-to)236.e9-236.e15
JournalNeurobiology of Aging
Volume84
DOIs
Publication statusPublished - Dec 2019

Keywords

  • Common ancestor
  • Founder effect
  • Frontotemporal dementia FTD
  • MAPT
  • Mutational event
  • rs63751273

ASJC Scopus subject areas

  • Neuroscience(all)
  • Ageing
  • Clinical Neurology
  • Developmental Biology
  • Geriatrics and Gerontology

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  • Cite this

    Palencia-Madrid, L., Sánchez-Valle, R., Fernández de Retana, I., Borrego, S., Grau-Rivera, O., Reñé, R., Hernández, I., Almenar, C., Rossi, G., Caroppo, P., Redaelli, V., Le Ber, I., Camuzat, A., Brice, A., Antonell, A., Balasa, M., Gelpi, E., Lladó, A., & de Pancorbo, M. M. (2019). A unique common ancestor introduced P301L mutation in MAPT gene in frontotemporal dementia patients from Barcelona (Baix Llobregat, Spain). Neurobiology of Aging, 84, 236.e9-236.e15. https://doi.org/10.1016/j.neurobiolaging.2019.08.015