Hereditary frontotemporal dementia caused by Tau gene mutations.
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.
van Swieten
John
J
Erasmus Medical Centre, Rotterdam, The Netherlands. j.c.vanswieten@erasmusmc.nl
Spillantini
Maria Grazia
MG
D001921:Brain / Q000473:pathology; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D003704:Dementia / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D009154:Mutation / Q000235:genetics; D020734:Parkinsonian Disorders / Q000235:genetics / Q000378:metabolism; D016875:tau Proteins / Q000235:genetics* / Q000378:metabolism
D016875:tau Proteins