Strong association of a novel Tau promoter haplotype in progressive supranuclear palsy

doi:10.1016/S0304-3940(01)02109-7

Neuroscience Letters

Volume 311, Issue 3, 5 October 2001, Pages 145-148

https://doi.org/10.1016/S0304-3940(01)02109-7 Get rights and content

Abstract

The microtubule associated protein, tau, is found in fibrillar lesions that characterise progressive supranuclear palsy (PSP) and related tauopathies. Mutations in the tau gene in frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) and genetic association of the H1 haplotype of the tau gene with PSP has firmly established a direct role for tau in disease pathogenesis. However, the functional significance of the tau genetic association in PSP is unknown. We analysed the tau gene promoter sequence and identified two novel single nucleotide polymorphisms. Here we report the genetic association of a novel tau promoter haplotype with PSP which may influence tau transcription.

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Acknowledgements

The first two authors contributed equally to this work. This work was supported by the PSP (Europe) Association (http://www.pspeur.org) the Brain Research Trust, the Reta Lila Weston Trust and the Morris K. Udall Parkinson Disease Center of Research Excellence (ERM; Grant NS 39764-02). R.de.S. is a PSP (Europe) Association Fellow, H.R.M. is an M.R.C. Clinical Training Fellow.

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Strong association of a novel Tau promoter haplotype in progressive supranuclear palsy

Abstract

Section snippets

Acknowledgements

Neurosci. Lett.

Am. J. Hum. Genet.

A tau promoter region without neuronal specificity

J. Neurochem.

Association of an extended haplotype in the tau gene with progressive supranuclear palsy

Hum. Mol. Genet.

Incidence of progressive supranuclear palsy and multiple system atrophy in Olmsted county, Minnesota; 1976 to 1990

Neurology

Overexpression of four-repeat tau mRNA isoforms in progressive supranuclear palsy but not in Alzheimer's disease

Ann. Neurol.

Genetic evidence for the involvement of tau in progressive supranuclear palsy

Ann. Neurol.

Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17

Nature