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

Rohan De Silva, Markus Weiler, Huw R. Morris, Eden R. Martin, Nicholas W. Wood, Andrew J. Lees

Research output: Contribution to journalArticlepeer-review

45 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)145-148
Number of pages4
JournalNeuroscience Letters
Volume311
Issue number3
DOIs
StatePublished - Oct 5 2001
Externally publishedYes

Keywords

  • Neurodegeneration
  • Parkinsonism, Polymorphism
  • Progressive supranuclear palsy
  • Promoter
  • Tau
  • Tauopathy

ASJC Scopus subject areas

  • Neuroscience(all)

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