Progressive supranuclear palsy (PSP) is a brain disease with tau aggregates in neurons, oligodendrocytes, and astrocytes. Previous work identified two genetic variants that elevate PSP risk. This study used whole exome sequencing to search for additional genetic risk factors. A collection of autopsy-confirmed PSP samples of European ancestry from approximately 20 sites across the United States were assembled. Over half are from the Mayo Clinic, Jacksonville. 764 PSP samples were sequenced initially, and additional sequencing was done for samples where coverage did not reach 20X coverage for more than 80% targeted region and 10X coverage for more than 90% of the targeted regions. 550 PSP samples passed quality checks.  WES data was processed using the Alzheimer’s Disease Sequencing Project (ADSP) protocol for quality control procedures and for generating a project level variant call format file (VCF).

Gerard D. Schellenberg, Ph.D.

Funded by CurePSP.

Acknowledgment statement for any data distributed by NIAGADS:

Data for this study were prepared, archived, and distributed by the National Institute on Aging Alzheimer's Disease Data Storage Site (NIAGADS) at the University of Pennsylvania (U24-AG041689), funded by the National Institute on Aging.