ID
45852
Descrição
Principal Investigator: Tatiana Foroud, PhD, Indiana University, IN, USA MeSH: Parkinson Disease https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001004 A portion of the sample includes multiplex PD families recruited as part of a previously funded study (R01NS037167; PI: Tatiana Foroud). Families were ascertained initially through a living affected sibling pair. Subsequently, ascertainment was loosened to include PD probands having a positive family history of PD in a first degree relative, who was not required to be part of the study. All individuals completed an in-person evaluation at one of the 65 Parkinson Study Group sites participating in this study. Individuals completed a detailed evaluation that included the Unified Parkinson Disease Rating Scale (UPDRS), Mini-Mental State Examination (MMSE), Geriatric Depression Scale (GDS) and a diagnostic checklist that implemented the UK PD Brain Bank inclusion and exclusion criteria. An autopsy program was established in this study and brain tissue for confirmation of diagnosis and further experimental study are available from over 100 participants. Autopsy confirmation of the PD diagnosis was nearly 100% for those who met UK PD Brain Bank criteria. In addition, because this was a cross sectional study and family members were often seen very early in disease course, among those who did not meet UK PD Brain Bank criteria but had a subsequent autopsy, a significant subset (1/3) had autopsy confirmation of PD. The second source of samples is from the NINDS Human Genetics DNA and Cell Line Repository located at the Coriell Institute. Currently DNA from 4,509 PD patients is available from the Coriell Institute. We restricted the selected sample to include only Caucasians and ensured there was no overlap with samples contributed by the PROGENI Study.
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Versões (1)
- 19/09/2023 19/09/2023 - Simon Heim
Titular dos direitos
Tatiana Foroud, PhD, Indiana University, IN, USA
Transferido a
19 de setembro de 2023
DOI
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Licença
Creative Commons BY 4.0
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dbGaP phs001004 Genetic Analysis of Parkinson's Disease
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, consent group, sex, subject source, and source subject ID of participants with or without Parkinson's disease and involved in the "Genetic Analysis of Parkinson's Disease" project.
- Subject ID, family ID, father, mother, and sex of participants with or without Parkinson's disease and involved in the "Genetic Analysis of Parkinson's Disease" project.
- Subject ID, sample ID, and sample use of participants with or without Parkinson's disease and involved in the "Genetic Analysis of Parkinson's Disease" project.
- Subject ID, education, ethnicity, smoking status, Alzheimer disease symptoms, Parkinsonism, Parkinson disease symptoms, Parkinson disease symptoms, bradykinesia, cerebellar signs, Parkinson disease diagnosis, encephalitis, FAM, handedness, history of head injury, hypotension, levodopa induced chorea, MRI, oculogyric crisis, onset greater than 20 years of age, persistent asymmetry, persistent asymmetry, progressive disorder, race, sustained remission, rest tremor, sensory deficits, supranuclear Gaze Palsy, unexplained upper motor neuron signs, affection status, and year of birth of participants with or without Parkinson's disease and involved in the "Genetic Analysis of Parkinson's Disease" project.
- Sample ID, analyte type, and tumor status of sample obtained from participants with or without Parkinson's disease and involved in the "Genetic Analysis of Parkinson's Disease" project.
Similar models
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, consent group, sex, subject source, and source subject ID of participants with or without Parkinson's disease and involved in the "Genetic Analysis of Parkinson's Disease" project.
- Subject ID, family ID, father, mother, and sex of participants with or without Parkinson's disease and involved in the "Genetic Analysis of Parkinson's Disease" project.
- Subject ID, sample ID, and sample use of participants with or without Parkinson's disease and involved in the "Genetic Analysis of Parkinson's Disease" project.
- Subject ID, education, ethnicity, smoking status, Alzheimer disease symptoms, Parkinsonism, Parkinson disease symptoms, Parkinson disease symptoms, bradykinesia, cerebellar signs, Parkinson disease diagnosis, encephalitis, FAM, handedness, history of head injury, hypotension, levodopa induced chorea, MRI, oculogyric crisis, onset greater than 20 years of age, persistent asymmetry, persistent asymmetry, progressive disorder, race, sustained remission, rest tremor, sensory deficits, supranuclear Gaze Palsy, unexplained upper motor neuron signs, affection status, and year of birth of participants with or without Parkinson's disease and involved in the "Genetic Analysis of Parkinson's Disease" project.
- Sample ID, analyte type, and tumor status of sample obtained from participants with or without Parkinson's disease and involved in the "Genetic Analysis of Parkinson's Disease" project.
C0680251 (UMLS CUI [1,2])
C0030567 (UMLS CUI [1,2])