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Basic Science and Pathogenesis.

Linde L Jacobs1

  • 1Cure MAPT FTD, Denver, CO, USA.

Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association
|December 24, 2025
PubMed
Summary
This summary is machine-generated.

Families impacted by MAPT gene mutations in frontotemporal dementia (FTD) formed a global organization to share information and advocate for research. This initiative aims to support affected families and accelerate the development of new FTD therapies.

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Area of Science:

  • Neuroscience
  • Genetics
  • Public Health

Background:

  • Frontotemporal dementia (FTD) is the most common dementia in individuals under 60.
  • Approximately 30% of FTD cases have a genetic basis, linked to mutations in GRN, C9orf72, and MAPT genes.
  • Despite MAPT gene mutations being identified in 1998, no targeted therapies or multisite clinical trials exist.

Purpose of the Study:

  • To establish a collaborative network for families affected by MAPT gene mutations.
  • To facilitate information sharing, advocacy, and support for individuals and families impacted by MAPT-related FTD.
  • To address the lack of resources for diagnosing and treating FTD.

Main Methods:

  • A non-profit organization and database were established in November 2023 by family kindreds impacted by MAPT mutations.

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  • Information was gathered from 42 family kindreds across 6 generations and 10 countries.
  • The database includes individuals with symptomatic disease, pre-symptomatic carriers, tested non-carriers, and at-risk or untested members, totaling over 500 individuals.

    • Main Results:

    • The organization has organized 42 family kindreds globally, encompassing over 500 individuals.
    • The network spans 6 generations and includes diverse family members (symptomatic, pre-symptomatic, non-carriers, at-risk).
    • This international effort connects families across North America, South America, Europe, Australia, and Asia.

    Conclusions:

    • There is a significant burden of FTD on patients and families, compounded by a lack of efficient diagnostic and treatment resources.
    • The organization is collaborating with other FTD groups and institutions to expand reach to MAPT families worldwide.
    • The initiative aims to provide support, identify advocacy areas, promote research, and contribute to future therapeutics for MAPT-related FTD.