--- title: "Progressive Supranuclear Palsy (PSP)" id: "1682" type: "cohort" slug: "progressive-supranuclear-palsy-psp" published_at: "2020-02-19T14:55:55+00:00" modified_at: "2024-10-23T16:52:49+00:00" url: "https://dss.niagads.org/cohorts/progressive-supranuclear-palsy-psp/" markdown_url: "https://dss.niagads.org/cohorts/progressive-supranuclear-palsy-psp.md" excerpt: "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 the Mayo Clinic, Harvard Brain Tissue Resource Center at McClean..." taxonomy_cohort_categories: - "ADSP" taxonomy_cohort_countries: - "Australia" - "Canada" - "France" - "Germany" - "Netherlands" - "Spain" - "United Kingdom" - "United States of America" --- ## Description 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 the Mayo Clinic, Harvard Brain Tissue Resource Center at McClean Hospital, and the University of Pennsylvania and additional small numbers of cases were obtained from various other institutions across the US. The neuropathological diagnosis was made according to NINDS neuropathologic diagnostic criteria. DNA was extracted from brain tissue from patients who had consented for brain donation. DNA samples and/or tissue were sent to the University of Pennsylvania for preparation for genotyping. ## Related 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/) - [NG00196- Genotyping short tandem repeats using the ADSP R4 cohort](https://dss.niagads.org/datasets/ng00196/) A two-step pipeline was used to first identify expanded short tandem repeats (STRs) in ADSP samples using ExpansionHunter Denovo and then genotype the identified STRs, along with additional polymorphic STRs… [Learn more](https://dss.niagads.org/datasets/ng00196/) ## Related Studies - [sa000011 - Accelerating Medicines Partnership- Alzheimer’s Disease (AMP-AD)](https://dss.niagads.org/studies/sa000011/) The Accelerating Medicines Partnership- Alzheimer’s Disease Target Discovery and Preclinical Validation (AMP-AD) has supported the generation of whole genome data from three studies: the MAYO RNAseq Study, the Mount Sinai… [Learn more](https://dss.niagads.org/studies/sa000011/) - [sa000016 - CurePSP and Tau Consortium PSP WGS](https://dss.niagads.org/studies/sa000016/) 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… [Learn more](https://dss.niagads.org/studies/sa000016/) - [sa000087 - Genotyping short tandem repeats using ADSP R4](https://dss.niagads.org/studies/sa000087/) Variation in tandem repeats (TRs), particularly large expansions of triplet repeats (e.g., polyCAG), is known to cause a number of late-onset neurological diseases. Due to their repetitive and degenerate nature,… [Learn more](https://dss.niagads.org/studies/sa000087/) - [sa000015 - NIH, CurePSP and Tau Consortium PSP WGS](https://dss.niagads.org/studies/sa000015/) 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… [Learn more](https://dss.niagads.org/studies/sa000015/) - [sa000010 - Progressive Supranuclear Palsy Study (PSP)](https://dss.niagads.org/studies/sa000010/) 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… [Learn more](https://dss.niagads.org/studies/sa000010/) ## Related Sample Sets - [snd10010 - PSP WES](https://dss.niagads.org/sample-sets/snd10010/) Progressive supranuclear palsy samples were sequenced at FGC, IDOM and PGFI at University of Pennsylvania on the HiSeq2000/2500 machine. 705 samples were sequenced using Roche Nimblegen's VCRome v2.1, target capture… [Learn more](https://dss.niagads.org/sample-sets/snd10010/) - [snd10011 - AMP-AD WGS](https://dss.niagads.org/sample-sets/snd10011/) AMP-AD samples from the ROSMAP, MayoRNAseq, and Mount Sinai Brain Bank cohorts were whole-genome sequenced at New York Genome Center on the HiSeqX machine. FASTQ files were sent to GCAD… [Learn more](https://dss.niagads.org/sample-sets/snd10011/) - [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/) - [snd10016 - PSP CurePSP-Tau WGS](https://dss.niagads.org/sample-sets/snd10016/) PSP CurePSP and Tau Consortium samples were whole-genome sequenced at Macrogen on the HiSeqX machine. FASTQ files were sent to GCAD for processing on the VCPA1.1 pipeline. 886 samples passed… [Learn more](https://dss.niagads.org/sample-sets/snd10016/) - [snd10147 - ADSP R4 Short Tandem Repeats (STRs)](https://dss.niagads.org/sample-sets/snd10147/) This dataset comprises short tandem repeat (STR) genotypes from 31,681 whole-genome sequencing (WGS) samples from the ADSP R4 data release. The STRs were genotyped using ExpansionHunter with a custom catalog… [Learn more](https://dss.niagads.org/sample-sets/snd10147/) ```