{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Towns C"],"funding":["Cure Parkinson's Trust","Medical Research Council","Janet Owens bequest fund","National Institute for Health Research (NIHR)","Global Parkinson’s Genetics Program","Cure Parkinson’s Trust","Wellcome Trust"],"pagination":["188"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11487259"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["10(1)"],"pubmed_abstract":["The Parkinson's Families Project is a UK-wide study aimed at identifying genetic variation associated with familial and early-onset Parkinson's disease (PD). We recruited individuals with a clinical diagnosis of PD and age at motor symptom onset ≤45 years and/or a family history of PD in up to third-degree relatives. Where possible, we also recruited affected and unaffected relatives. We analysed DNA samples with a combination of single nucleotide polymorphism (SNP) array genotyping, multiplex ligation-dependent probe amplification (MLPA), and whole-genome sequencing (WGS). We investigated the association between identified pathogenic mutations and demographic and clinical factors such as age at motor symptom onset, family history, motor symptoms (MDS-UPDRS) and cognitive performance (MoCA"],"journal":["NPJ Parkinson's disease"],"pubmed_title":["Parkinson's families project: a UK-wide study of early onset and familial Parkinson's disease."],"pmcid":["PMC11487259"],"funding_grant_id":["G0700943"],"pubmed_authors":["Bandmann O","Sveinbjornsdottir S","Padiachy D","Wu L","Raw J","Asad S","Schmaderer TM","Dean S","Hodgson M","Gentilini I","Lange LM","Wood NW","Chaudhuri R","Wickremaratchi M","Hand A","Buccoliero R","Misbahuddin A","Wiblin L","Molloy S","Guptha S","Houlden H","Labrum R","Webster G","Nacorda A","Stafford EJ","Walker R","Global Parkinson’s Genetics Program (GP2)","Polke J","Archibald N","Jasaityte S","Kunc M","Bhatia KP","Tan MMX","Schrag A","Parkinson’s Families Project (PFP) Study Group","Strens L","Hartley L","Pollard M","Capps E","Barnes C","Morris HR","Jones S","Williams S","Paviour D","Cosgrove J","Shaik S","D'Costa D","Jones E","Sheridan R","Tuck S","Blauwendraat C","Fang ZH","Arianayagam S","Towns C","Vickers C","Real R","Nath U","Brierley C","Sophia R","Singleton AB","Tilney R","Saifee T","Funaki A","Jarman PR","Schapira AHV","Wakeman E","Gregory R","Amar K","Wales E","Truscott R","Slaght SJ","Crouch R","Klein C","Tai Y","Mann C","Hehir J"],"additional_accession":[]},"is_claimable":false,"name":"Parkinson's families project: a UK-wide study of early onset and familial Parkinson's disease.","description":"The Parkinson's Families Project is a UK-wide study aimed at identifying genetic variation associated with familial and early-onset Parkinson's disease (PD). We recruited individuals with a clinical diagnosis of PD and age at motor symptom onset ≤45 years and/or a family history of PD in up to third-degree relatives. Where possible, we also recruited affected and unaffected relatives. We analysed DNA samples with a combination of single nucleotide polymorphism (SNP) array genotyping, multiplex ligation-dependent probe amplification (MLPA), and whole-genome sequencing (WGS). We investigated the association between identified pathogenic mutations and demographic and clinical factors such as age at motor symptom onset, family history, motor symptoms (MDS-UPDRS) and cognitive performance (MoCA","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Oct","modification":"2026-07-15T13:04:18.566Z","creation":"2025-04-04T22:47:48.008Z"},"accession":"S-EPMC11487259","cross_references":{"pubmed":["39420034"],"doi":["10.1038/s41531-024-00778-z"]}}