Open AccessHereditary Frontotemporal Dementia Caused by Tau Gene Mutations
Author(s) -
Van Swieten John,
Spillantini Maria Grazia
Publication year - 2007
Publication title -
brain pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.986
H-Index - 132
eISSN - 1750-3639
pISSN - 1015-6305
DOI - 10.1111/j.1750-3639.2007.00052.x
Subject(s) - frontotemporal dementia , neurodegeneration , tau protein , parkinsonism , gene isoform , biology , neuroscience , gene , progressive supranuclear palsy , dementia , mutation , genetics , medicine , disease , pathology , alzheimer's disease , atrophy
Tau protein is involved in microtubule assembly and stabilization. Filamentous deposits made of tau constitute a defining characteristic of several neurodegenerative diseases. The relevance of tau dysfunction for neurodegeneration has been clarified through the identification of mutations in the Tau gene in cases with frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP‐17). Although the mechanisms by which these mutations lead to nerve cell death are only incompletely understood, it is clear that they cause the formation of tau filaments with distinct morphologies and isoform compositions. The range of tau pathology identified in FTDP‐17 recapitulates that in sporadic tauopathies, indicating a major role for tau dysfunction in these diseases.