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Study Description

We have an ongoing study that has recruited families having at least a sibling pair with Parkinson disease (PD). Families have been screened for mutations in known PD causative genes (LRRK2, parkin, etc). Following review of families without a causative mutation, we selected families for whole exome sequencing that had the strongest history of PD and with the most definitive diagnosis. All families have at least 3 affected family members who were evaluated as part of this study. Only affected family members were included for whole exome sequencing.

  • Study Weblink: PROGENI
  • Study Type: Family
  • Number of study subjects that have individual level data available through Authorized Access: 44

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Publicly Available Data (Public ftp)

Connect to the public download site. The site contains release notes and manifests. If available, the site also contains data dictionaries, variable summaries, documents, and truncated analyses.

Study Inclusion/Exclusion Criteria

Family members were evaluated, whenever possible, in person using a series of standard case report forms. The UK Brain Bank criteria were implemented as a Diagnostic Checklist (Pankratz et al., 2002) and all individuals included for sequencing met the modified UK Brain Bank criteria. The modified criteria allows for a family history of PD.

Molecular Data
TypeSourcePlatformNumber of Oligos/SNPsSNP Batch IdComment
Whole Genome Genotyping Illumina HumanOmni2.5 2443179 N/A
Study History

This study ascertained families having 2 living siblings diagnosed with Parkinson disease (PD). The families were screened for mutations in known genes (Nichols et al., Lancet, 2005; Pankratz et al., Neurology, 2009). Linkage analysis (Pankratz et al., HMG, 2003) was performed as well as a genomewide association study (Pankratz et al., Human Genetics, 2009).

Selected publications
Diseases/Traits Related to Study (MESH terms)
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Study Attribution