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

Sergi Borrego-Écija1, Anna Antonell1, Joan Anton Puig-Butillé2

  • 1Alzheimer's Disease and Other Cognitive Disorders Unit, Neurology Service, Hospital Clinic, Institut d'Investigació Biomèdica August Pi i Sunyer (IDIBAPS), University of Barcelona, Barcelona, Spain.

Annals of Clinical and Translational Neurology
|August 13, 2019
PubMed

Insights

A new mutation in the MAPT gene, p.P397S, is linked to frontotemporal dementia. This genetic variant may cause a milder form of the disease compared to other MAPT mutations.

Area of Science:

  • Neuroscience
  • Genetics
  • Neurology

Background:

  • Mutations in the MAPT gene are a known cause of frontotemporal dementia (FTD).
  • FTD is characterized by progressive neurodegeneration and tau protein deposits.

Observation:

  • A novel MAPT variant, p.P397S, was identified in eight individuals across five families with frontotemporal dementia.
  • The inheritance pattern observed was autosomal dominant.
  • In silico analyses provided conflicting results regarding the variant's pathogenicity.

Findings:

  • Segregation analysis indicated that the p.P397S variant is likely pathogenic.
  • Individuals with the p.P397S variant had a later age of onset (mean 61.4 years) and longer disease duration (mean 13.9 years) compared to carriers of the p.P301L MAPT mutation.
  • These findings suggest p.P397S is associated with a less aggressive FTD phenotype.

Implications:

  • The p.P397S variant represents a new genetic cause of frontotemporal dementia.
  • This discovery expands the spectrum of MAPT mutations associated with FTD.
  • The identification of a less aggressive phenotype associated with p.P397S could inform future diagnostic and therapeutic strategies for FTD.

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