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

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 lin ked 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 di sease 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 th e genetic association of a novel tau promoter haplotype with PSP which may influence tau transcription. (C) 2001 Elsevier Science Ireland Ltd. All rig hts reserved.