---
title: "NIH, CurePSP and Tau Consortium PSP WGS"
id: "2370"
type: "study"
slug: "sa000015"
published_at: "2021-02-25T20:06:25+00:00"
modified_at: "2021-02-25T23:05:54+00:00"
url: "https://dss.niagads.org/studies/sa000015/"
markdown_url: "https://dss.niagads.org/studies/sa000015.md"
excerpt: "Progressive supranuclear palsy (PSP) is the most common frontotemporal lobar degeneration associated with tau pathology. The majority of patients with PSP can be accurately diagnosed antemortem due to a characteristic clinical syndrome; however, there are atypical clinicopathologic forms of PSP..."
---

## Description

Progressive supranuclear palsy (PSP) is the most common frontotemporal lobar degeneration associated with tau pathology. The majority of patients with PSP can be accurately diagnosed antemortem due to a characteristic clinical syndrome; however, there are atypical clinicopathologic forms of PSP that can mimic Parkinson’s disease, frontotemporal dementia, progressive nonfluent aphasia and corticobasal syndrome. While rare pathogenic variants, common risk factors, and – more recently – rare risk-associated variants have been identified in PSP, a significant proportion of the heritability for neurodegenerative tauopathies and other frontotemporal lobar degenerations remains unexplained, strongly suggesting that additional genetic risk factors await discovery. We assembled PSP samples for whole-genome sequencing (WGS) of neuropathologically characterized PSP, with the majority coming from the Mayo Clinic in Jacksonville. Other major contributors were the University of Pennsylvania and University College London.

The SeqLab Core at the Henry M. Jackson Foundation for the Advancement of Military Medicine, Inc., Uniformed Services University of the Health Sciences (HJF/USU) conducted genomic sequencing of de-identified DNA samples. Library preparation used the Illumina PCR-free DNA workflow on SeqLab automated Hamilton STAR liquid handling platforms. Clustered libraries were sequenced using the Illumina HiSeq X platform. FASTQ data were generated and genomic variants called after quality control, alignment and calling performed on HAS 2.0 software algorithm. The Genome Center for Alzheimer’s Disease (GCAD), at the University of Pennsylvania, processed the sequence data using a standardized pipeline.

## PI

Giovanni Coppola, MD  
 *University of California Los Angeles*

Dennis Dickson, MD  
 *Mayo Clinic Jacksonville*

Gerard D. Schellenberg, PhD  
 *University of Pennsylvania*

Judith Steen, PhD  
 *Boston Children’s Hospital*

Li-San Wang, PhD  
 *University of Pennsylvania*

## Associated Datasets

- [NG00067 - ADSP Umbrella](https://dss.niagads.org/datasets/ng00067/) This dataset includes sequencing data and harmonized phenotypes from cohorts sequenced by the Alzheimer’s Disease Sequencing Project and other AD and Related Dementia’s studies. Samples are processed using a common… [Learn more](https://dss.niagads.org/datasets/ng00067/)

## Associated Sample Sets

- [snd10015 - PSP NIH-CurePSP-Tau WGS](https://dss.niagads.org/sample-sets/snd10015/) PSP NIH, CurePSP and Tau consortium samples were whole-genome sequenced at USUHS on the HiSeqX machine. FASTQ files were sent to GCAD for processing on the VCPA1.1 pipeline. 617 samples… [Learn more](https://dss.niagads.org/sample-sets/snd10015/)

## Cohorts

- [NIA Alzheimer's Disease Research Centers (ADRC)](https://dss.niagads.org/cohorts/nia-alzheimers-disease-research-centers-adrc/) The NIA ADRC cohort included subjects ascertained and evaluated by the clinical and neuropathology cores of the 32 NIA-funded ADRCs. Data collection is coordinated by the National Alzheimer’s Coordinating Center… [Learn more](https://dss.niagads.org/cohorts/nia-alzheimers-disease-research-centers-adrc/)
- [Progressive Supranuclear Palsy (PSP)](https://dss.niagads.org/cohorts/progressive-supranuclear-palsy-psp/) Patients with a clinical Parkinsonism in life and neuropathological confirmation of Progressive Supranuclear Palsy (PSP) were identified from brain banks, research hospitals and neuropathologists. The top three contributing sites were… [Learn more](https://dss.niagads.org/cohorts/progressive-supranuclear-palsy-psp/)

## Grants

UG3NS104095 “Impact of Coding and Non-coding Variation in Progressive Supranuclear Palsy”

## Acknowledgement

### 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.

### For investigators using NIH, CurePSP and Tau Consortium PSP WGS data:

This project was funded by the NIH grant UG3NS104095 and supported by grants U54NS100693 and U54AG052427. Queen Square Brain Bank is supported by the Reta Lila Weston Institute for Neurological Studies and the Medical Research Council UK. The Mayo Clinic Florida had support from a Morris K. Udall Parkinson's Disease Research Center of Excellence (NINDS P50 #NS072187), CurePSP and the Tau Consortium. The samples from the University of Pennsylvania are supported by NIA grant P01AG017586.