NINDS Parkinson's Disease

Epidemiological studies have estimated a cumulative prevalence of PD of greater than 1 per thousand. When prevalence is
limited to senior populations, this proportion increases nearly 10-fold. The estimated genetic risk ratio for PD is
approximately 1.7 (70% increased risk for PD if a sibling has PD) for all ages, and increases over 7-fold for those under
age 66 years. The role for genes contributing to the risk of PD is therefore significant.
This study utilized the well characterized collection of North American Caucasians
with Parkinson's disease, and neurologically normal controls from the sample
population which are banked in the National Institute of Neurological Disorders and Stroke (NINDS Repository) collection
for a first stage whole genome analysis. Genome-wide, single nucleotide polymorphism (SNP) genotyping of these publicly
available samples was originally done in 267 Parkinson's disease patients and 270 controls, and this has been extended
to include genome wide genotyping in 939 Parkinson's disease cases and 802 controls.
The NINDS repository was established in 10-2001 towards the goal of developing standardized, broadly useful diagnostic
and other clinical data and a collection of DNA and cell line samples to further advances in gene discovery of neurological
disorders. All samples, phenotypic, and genotypic data are available to the research community including to academics and
industry scientists. In addition, well characterized neurologically normal control subjects are a part of the collection.
This collection formed the basis of this first stage study by Fung et al., and the expanded study by Simon-Sanchez et al.
The genotyping data was generated and provided by the laboratory of Dr. Andrew Singleton NIA, and Dr. John Hardy
NIA (NIH Intramural, funding from NIA and NINDS).
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Control Clinical Data ElementsParkinsonism Clinical Data ElementsSAMPLE INFORMED CONSENT LANGUAGENational Institute of Neurological Disorders and Stroke (NINDS) was computed by the dbGaP group at NCBI. It contained 269 cases and 266 neurologically normal controls which were derived from the NINDS Neurogenetics repository at Coriell Cell Repositories. The genotyping data was generated and provided by the laboratory of Dr. Andrew Singleton, NIA and Dr. John Hardy, NIA using the " Illumina Infinium I " and " HumanHap 300 " chips (NIH Intramural funding from NIA and NINDS).
]]>National Institute of Neurological Disorders and Stroke (NINDS) was computed by the dbGaP group at NCBI. It contained 269 cases and 266 neurologically normal controls which were derived from the NINDS Neurogenetics repository at Coriell Cell Repositories. The genotyping data was generated and provided by the laboratory of Dr. Andrew Singleton, NIA and Dr. John Hardy, NIA using the " Illumina Infinium I " and " HumanHap 300 " chips (NIH Intramural funding from NIA and NINDS).
]]>To assess the homogeneity of our cohort, pair-wise Identity by State distances were calculated using HapMap data as a reference. The results of these analyses reveal that our samples share common Caucasian ancestry. Power calculations showed that our sample had 80% power to detect variants conferring an odds ratio (OR) of 1.3 with an allele frequency of 10%. Each SNP was tested for association using a trend model.
The genotype data being made available within the dbGaP Study Accession phs000089.v3.p2, consist of cases and controls from the United States from the stage I analysis that are eligible for inclusion in dbGap. Samples for this study are available through Coriell under the NINDS Repository Collection.
]]>Cases: All cases were evaluated by a neurologist. Each participant underwent a detailed evaluation for Parkinson's disease,
and met either the Gelb criteria or the UK Brain Bank Criteria (both below). All were white and from the USA, ranking in age of
onset from 55 to 84 years. Disease onset was 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, postural instability. Those with and without a family
history of Parkinson's disease were included, but those who had three or more relatives with parkinsonism, or apparent Mendelian
inheritance of neurodegenerative disease were excluded.

Diagnostic Criteria for Parkinson's Disease (Gelb et al)
UK Parkinson's Disease Society Brain Bank Clinical Diagnostic
Criteria

Controls: Blood samples were drawn from neurologically normal, unrelated, white individuals at many different sites in the USA.
Each participant underwent a detailed medical history interview and had no family history on specific query of Alzheimer's disease,
amyotrophic lateral sclerosis, ataxia, autism, bipolar disorder, brain aneurysm, dementia, dystonia, or Parkinson's disease. Folstein
Mini-mental state examination scores ranged from 26-30. All participants were interviewed for family history in detail and specifically
had no first degree relative with any of the following: amyotrophic lateral sclerosis, ataxia, autism, brain aneurysm, dystonia,
Parkinson's disease, and schizophrenia. The mean age of participants at sample collection was 68 (range 55-88 years).]]>