Creating the Pick's disease International Consortium: Association study of <i>MAPT</i> H2 haplotype with risk of Pick's disease.

ABSTRACT:

Background

Pick's disease (PiD) is a rare and predominantly sporadic form of frontotemporal dementia that is classified as a primary tauopathy. PiD is pathologically defined by argyrophilic inclusion Pick bodies and ballooned neurons in the frontal and temporal brain lobes. PiD is characterised by the presence of Pick bodies which are formed from aggregated, hyperphosphorylated, 3-repeat tau proteins, encoded by the MAPT gene. The MAPT H2 haplotype has consistently been associated with a decreased disease risk of the 4-repeat tauopathies of progressive supranuclear palsy and corticobasal degeneration, however its role in susceptibility to PiD is unclear. The primary aim of this study was to evaluate the association between MAPT H2 and risk of PiD.

Methods

SUBMITTER: Valentino RR 

PROVIDER: S-EPMC10168402 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature