ID
45156
Beschrijving
Principal Investigator: Tatiana Foroud, PhD, Indiana University School of Medicine, Indianapolis, IN, USA MeSH: Parkinson Disease https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000376 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.
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Trefwoorden
Versies (2)
- 04-09-22 04-09-22 - Simon Heim
- 12-10-22 12-10-22 - Adrian Schulz
Houder van rechten
Tatiana Foroud, PhD, Indiana University School of Medicine, Indianapolis, IN, USA
Geüploaded op
12 oktober 2022
DOI
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Licentie
Creative Commons BY 4.0
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dbGaP phs000376 Whole Exome Sequencing in Familial Parkinson Disease
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, consent group, subject source, subject source ID, and affection status of participants with family history of Parkinson disease and involved in the "Whole Exome Sequencing in Familial Parkinson Disease" project.
- Subject ID, family ID, father and mother IDs, and sex of participants with family history of Parkinson disease and involved in the "Whole Exome Sequencing in Familial Parkinson Disease" project.
- Sample ID, subject ID, and sample use variable of participants with family history of Parkinson disease and involved in the "Whole Exome Sequencing in Familial Parkinson Disease" project.
- Subject ID, race, ethnicity, sex, age of Parkinson disease onset, asymmetric onset, bradykinesia, resting tremor, postural instability, ridgidity, gait difficulties, supranuclear gaze palsy, dysautonomia, memory loss, activation tremor, oculagyric crisis, Hoehn and Yahr score, history of stroke, head injury, encephalitis, hallucinations, and smoking status of participants with family history of Parkinson disease and involved in the "Whole Exome Sequencing in Familial Parkinson Disease" project.
- Sample ID, body site, and analyte type of samples obtained from participants with family history of Parkinson disease and involved in the "Whole Exome Sequencing in Familial Parkinson Disease" project.
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Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, consent group, subject source, subject source ID, and affection status of participants with family history of Parkinson disease and involved in the "Whole Exome Sequencing in Familial Parkinson Disease" project.
- Subject ID, family ID, father and mother IDs, and sex of participants with family history of Parkinson disease and involved in the "Whole Exome Sequencing in Familial Parkinson Disease" project.
- Sample ID, subject ID, and sample use variable of participants with family history of Parkinson disease and involved in the "Whole Exome Sequencing in Familial Parkinson Disease" project.
- Subject ID, race, ethnicity, sex, age of Parkinson disease onset, asymmetric onset, bradykinesia, resting tremor, postural instability, ridgidity, gait difficulties, supranuclear gaze palsy, dysautonomia, memory loss, activation tremor, oculagyric crisis, Hoehn and Yahr score, history of stroke, head injury, encephalitis, hallucinations, and smoking status of participants with family history of Parkinson disease and involved in the "Whole Exome Sequencing in Familial Parkinson Disease" project.
- Sample ID, body site, and analyte type of samples obtained from participants with family history of Parkinson disease and involved in the "Whole Exome Sequencing in Familial Parkinson Disease" project.
C0220825 (UMLS CUI [1,2])
C1516308 (UMLS CUI [1,3])
C0348026 (UMLS CUI [1,4])
C1707357 (UMLS CUI [1,5])
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