Parkinson's Families Project: a UK-wide study of early onset and familial Parkinson's disease

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. 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). The files contain the cleaned datasets used to perform statistical and polygenic risk score analyses.帕金森家庭项目（Parkinson’s Families Project）是一项覆盖全英国的研究，旨在识别与家族性及早发性帕金森病（Parkinson's disease, PD）相关的遗传变异。本研究招募了经临床确诊为帕金森病，且运动症状起病年龄≤45岁，和/或在至多三级亲属中存在帕金森病家族史的受试者。研究团队采用单核苷酸多态性（single nucleotide polymorphism, SNP）阵列基因分型、多重连接依赖性探针扩增（multiplex ligation-dependent probe amplification, MLPA）与全基因组测序（whole-genome sequencing, WGS）相结合的方法对DNA样本进行了分析。本研究探究了已鉴定的致病性突变与人口统计学及临床特征（如运动症状起病年龄、家族史、运动症状相关评分[运动障碍协会统一帕金森病评定量表（Movement Disorder Society-Unified Parkinson's Disease Rating Scale, MDS-UPDRS）]以及认知功能表现[蒙特利尔认知评估量表（Montreal Cognitive Assessment, MoCA）]）之间的关联。本数据集包含用于开展统计学分析及多基因风险评分分析的已清洗数据集。