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Related Experiment Videos

Frontotemporal dementia genetics

K C Wilhelmsen1

  • 1Gallo Clinic & Research Center, University of California, San Francisco 94110, USA.

Journal of Geriatric Psychiatry and Neurology
|January 7, 1999
PubMed
Summary
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Frontotemporal dementia (FTD) is a common neurodegenerative syndrome affecting frontal lobes. Mutations in the tau gene linked to chromosome 17q21-22 suggest tau

Area of Science:

  • Neuroscience
  • Genetics
  • Neuropathology

Background:

  • Frontotemporal dementia (FTD) is the leading cause of neurodegeneration in the frontal lobes.
  • FTD often has a familial component, with a susceptibility locus identified on chromosome 17q21-22.
  • Some families with the 17q21-22 linkage exhibit mutations in the tau gene and tau protein aggregates.

Purpose of the Study:

  • To investigate the role of tau gene mutations in the pathogenesis of frontotemporal dementia.
  • To explore the link between chromosome 17q21-22 susceptibility locus and tau pathology in FTD.
  • To determine if tau mutations can directly cause neurodegeneration.

Main Methods:

  • Genetic analysis of tau gene in familial FTD cases.
  • Linkage analysis for chromosome 17q21-22 in affected families.

Related Experiment Videos

  • Histopathological examination for hyperphosphorylated tau aggregates.

    • Main Results:

    • Identification of tau gene mutations in some 17q21-22-linked FTD families.
    • Microscopically visible aggregates of hyperphosphorylated tau are common in these families.
    • Evidence suggesting a direct link between tau mutations and neurodegeneration.

    Conclusions:

    • Mutations in the tau gene are implicated in the pathogenesis of certain forms of FTD.
    • The findings necessitate a reevaluation of tau's role in neurodegenerative diseases with disrupted tau biology.
    • Tau pathology is a critical factor in the development of FTD.