Brain, Vol. 123, No. 5, 857-859,
May 2000
© 2000 Oxford University Press
Editorial |
Tau mutations in familial frontotemporal dementia
Brain Repair Centre and Department of Neurology, University of Cambridge Cambridge, UK MRC Laboratory of Molecular Biology, Cambridge, UK
The discovery of close to 20 different mutations in the gene encoding the microtubule-associated protein tau in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) has shown that dysfunction of tau protein causes neurodegeneration and dementia (Hutton et al., 1998; Poorkaj et al., 1998; Spillantini et al., 1998; reviewed in Spillantini et al., 2000). It has implications for an understanding of Alzheimer's disease (AD), Pick's disease (PD), progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD). All these diseases are characterized neuropathologically by an abundant filamentous tau pathology in nerve cells and, for some, in glial cells. The paper by Stanford and colleagues published in this issue of Brain is the latest in a series of studies reporting novel mutations in the tau gene in FTDP-17 (Stanford et al., 2000
).
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