Hereditary Frontotemporal Dementia Caused by Tau Gene Mutations
Top Cited Papers
- 1 January 2007
- journal article
- review article
- Published by Wiley in Brain Pathology
- Vol. 17 (1) , 63-73
- https://doi.org/10.1111/j.1750-3639.2007.00052.x
Abstract
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.Keywords
This publication has 128 references indexed in Scilit:
- TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosisBiochemical and Biophysical Research Communications, 2006
- Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing proteinNature Genetics, 2004
- A novel tau mutation, S320F, causes a tauopathy with inclusions similar to those in Pick's diseaseAnnals of Neurology, 2002
- Amyloid β protein deposition in patients with frontotemporal lobar degeneration: relationship to age and apolipoprotein E genotypeNeuroscience Letters, 2001
- From genotype to phenotype: A clinical, pathological, and biochemical investigation of frontotemporal dementia and parkinsonism (FTDP-17) caused by the P301L tau mutationAnnals of Neurology, 1999
- High Prevalence of Mutations in the Microtubule-Associated Protein Tau in a Population Study of Frontotemporal Dementia in the NetherlandsAmerican Journal of Human Genetics, 1999
- Tau Pathology in Two Dutch Families with Mutations in the Microtubule-Binding Region of TauThe American Journal of Pathology, 1998
- Tau is a candidate gene for chromosome 17 frontotemporal dementiaAnnals of Neurology, 1998
- Autosomal dominant dementia with widespread neurofibrillary tanglesAnnals of Neurology, 1997
- Rapidly progressive autosomal dominant parkinsonism and dementia with pallido‐ponto‐nigral degenerationAnnals of Neurology, 1992