National Institute of Neurological Disorders and Stroke (NINDS) Exome Sequencing in Parkinson's Disease

This sub-study phs001103 PD Exome contains whole exome sequence data and selected phenotype of subjects available from the phs001103 study. Summary level phenotypes for the NINDS Parkinson's Disease Cohort participants can be viewed at the top-level study page phs001172 NINDS Parkinson's Disease Cohort. Individual level phenotype data and molecular data for all NINDS Parkinson's Disease Cohort top-level study and sub-study are available by requesting Authorized Access to the NINDS Parkinson's Disease Cohort phs001172 study.

Genome wide exome DNA sequencing was done in 618 Parkinson's disease samples deposited in Coriell NINDS repository. The DNA comes from a mixture of blood, and from cell lines (lymphoblast cell lines) derived from blood. The exome sequencing data was generated and provided by the laboratory of Neurogenetics lead by Dr. Andrew Singleton, NIA, NIH.

• Study Weblinks:
  • NINDS Parkinson's Disease Information Page
• Study Design:
  • Case Set
• Study Type:
  • Case Set
  • Longitudinal Cohort
• dbGaP estimated ancestry using GRAF-pop
• Total number of consented subjects: 618
• Subject Sample Telemetry Report (SSTR)

In order to be included in the Parkinson's disease collection, all cases are evaluated by a neurologist. Each participant is evaluated for Parkinson's disease, and meets either the Gelb criteria or the UK Brain Bank Criteria (both below). Disease onset is defined as the time when symptoms of the disease were first noted, including at least one of the following: resting tremor, rigidity, bradykinesia, gait disorder, and postural instability.

• Primary Phenotype: Parkinson Disease

• Principal Investigator
  • Dr. Andrew Singleton. National Institute of Aging, National Institutes of Health, Bethesda, MD, USA.