<HashMap><database>biostudies-literature</database><scores/><additional><submitter>Towns C</submitter><funding>Cure Parkinson&amp;apos;s Trust</funding><funding>Medical Research Council</funding><funding>Janet Owens bequest fund</funding><funding>National Institute for Health Research (NIHR)</funding><funding>Global Parkinson’s Genetics Program</funding><funding>Cure Parkinson’s Trust</funding><funding>Wellcome Trust</funding><pagination>188</pagination><full_dataset_link>https://www.ebi.ac.uk/biostudies/studies/S-EPMC11487259</full_dataset_link><repository>biostudies-literature</repository><omics_type>Unknown</omics_type><volume>10(1)</volume><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</pubmed_abstract><journal>NPJ Parkinson's disease</journal><pubmed_title>Parkinson's families project: a UK-wide study of early onset and familial Parkinson's disease.</pubmed_title><pmcid>PMC11487259</pmcid><funding_grant_id>G0700943</funding_grant_id><pubmed_authors>Bandmann O</pubmed_authors><pubmed_authors>Sveinbjornsdottir S</pubmed_authors><pubmed_authors>Padiachy D</pubmed_authors><pubmed_authors>Wu L</pubmed_authors><pubmed_authors>Raw J</pubmed_authors><pubmed_authors>Asad S</pubmed_authors><pubmed_authors>Schmaderer TM</pubmed_authors><pubmed_authors>Dean S</pubmed_authors><pubmed_authors>Hodgson M</pubmed_authors><pubmed_authors>Gentilini I</pubmed_authors><pubmed_authors>Lange LM</pubmed_authors><pubmed_authors>Wood NW</pubmed_authors><pubmed_authors>Chaudhuri R</pubmed_authors><pubmed_authors>Wickremaratchi M</pubmed_authors><pubmed_authors>Hand A</pubmed_authors><pubmed_authors>Buccoliero R</pubmed_authors><pubmed_authors>Misbahuddin A</pubmed_authors><pubmed_authors>Wiblin L</pubmed_authors><pubmed_authors>Molloy S</pubmed_authors><pubmed_authors>Guptha S</pubmed_authors><pubmed_authors>Houlden H</pubmed_authors><pubmed_authors>Labrum R</pubmed_authors><pubmed_authors>Webster G</pubmed_authors><pubmed_authors>Nacorda A</pubmed_authors><pubmed_authors>Stafford EJ</pubmed_authors><pubmed_authors>Walker R</pubmed_authors><pubmed_authors>Global Parkinson’s Genetics Program (GP2)</pubmed_authors><pubmed_authors>Polke J</pubmed_authors><pubmed_authors>Archibald N</pubmed_authors><pubmed_authors>Jasaityte S</pubmed_authors><pubmed_authors>Kunc M</pubmed_authors><pubmed_authors>Bhatia KP</pubmed_authors><pubmed_authors>Tan MMX</pubmed_authors><pubmed_authors>Schrag A</pubmed_authors><pubmed_authors>Parkinson’s Families Project (PFP) Study Group</pubmed_authors><pubmed_authors>Strens L</pubmed_authors><pubmed_authors>Hartley L</pubmed_authors><pubmed_authors>Pollard M</pubmed_authors><pubmed_authors>Capps E</pubmed_authors><pubmed_authors>Barnes C</pubmed_authors><pubmed_authors>Morris HR</pubmed_authors><pubmed_authors>Jones S</pubmed_authors><pubmed_authors>Williams S</pubmed_authors><pubmed_authors>Paviour D</pubmed_authors><pubmed_authors>Cosgrove J</pubmed_authors><pubmed_authors>Shaik S</pubmed_authors><pubmed_authors>D'Costa D</pubmed_authors><pubmed_authors>Jones E</pubmed_authors><pubmed_authors>Sheridan R</pubmed_authors><pubmed_authors>Tuck S</pubmed_authors><pubmed_authors>Blauwendraat C</pubmed_authors><pubmed_authors>Fang ZH</pubmed_authors><pubmed_authors>Arianayagam S</pubmed_authors><pubmed_authors>Towns C</pubmed_authors><pubmed_authors>Vickers C</pubmed_authors><pubmed_authors>Real R</pubmed_authors><pubmed_authors>Nath U</pubmed_authors><pubmed_authors>Brierley C</pubmed_authors><pubmed_authors>Sophia R</pubmed_authors><pubmed_authors>Singleton AB</pubmed_authors><pubmed_authors>Tilney R</pubmed_authors><pubmed_authors>Saifee T</pubmed_authors><pubmed_authors>Funaki A</pubmed_authors><pubmed_authors>Jarman PR</pubmed_authors><pubmed_authors>Schapira AHV</pubmed_authors><pubmed_authors>Wakeman E</pubmed_authors><pubmed_authors>Gregory R</pubmed_authors><pubmed_authors>Amar K</pubmed_authors><pubmed_authors>Wales E</pubmed_authors><pubmed_authors>Truscott R</pubmed_authors><pubmed_authors>Slaght SJ</pubmed_authors><pubmed_authors>Crouch R</pubmed_authors><pubmed_authors>Klein C</pubmed_authors><pubmed_authors>Tai Y</pubmed_authors><pubmed_authors>Mann C</pubmed_authors><pubmed_authors>Hehir J</pubmed_authors></additional><is_claimable>false</is_claimable><name>Parkinson's families project: a UK-wide study of early onset and familial Parkinson's disease.</name><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</description><dates><release>2024-01-01T00:00:00Z</release><publication>2024 Oct</publication><modification>2026-07-15T13:04:18.566Z</modification><creation>2025-04-04T22:47:48.008Z</creation></dates><accession>S-EPMC11487259</accession><cross_references><pubmed>39420034</pubmed><doi>10.1038/s41531-024-00778-z</doi></cross_references></HashMap>