Description

Parkinson's disease (PD) is a common neurodegenerative disease, characterized by classical motor features including tremor, rigidity, bradykinesia, postural instability and a wide range of non-motor symptoms. Notably, a good deal of research revealed that PD is heterogeneous in clinical manifestations, rate of progression and prognosis. It is crucial to acknowledge the marked heterogeneity of PD and establish compelling biomarkers to predict the disease progression and prognosis. In past decades, there were substantial studies focused on defining the biomarkers of PD, which substantially contributed to improving our knowledge of PD. However, the pathology and clinical heterogeneity of PD are still poorly understood and controversial. Moreover, the information about reliable and well-validated biomarkers for PD has not yet been investigated thoroughly. Investigators aim to characterize the clinical feature, genetic basis, environmental factors and their interactions among different PD subtypes in China, and identify promising biomarkers for PD progression.

Data were collected at baseline, 12±1 months during the routine follow-up visits. Information about detailed disease history, level of education, significant chronic comorbidities, physical examination, medication history, family history, living habits and toxic exposure history, which include smoking, drinking tea, alcoholic consumption, drinking coffee, exposure to pesticide or occupational solvent, history of carbon monoxide poisoning and recurrent head trauma will be recorded at baseline. For each visit evaluation, the same questionnaires will be conducted. A standardized neurological assessment according to the recommendation of Consensus on the construction of clinical database of Parkinson's disease and movement disorders in China. The Unified Parkinson's Disease Rating Scale (UPDRS) part III is conducted for motor assessment, all the patients are evaluated in "OFF" state. The clinical stage of PD is assessed by Hoehn and Yahr scale (H-Y). The non-motor symptoms are evaluated by Non-motor Symptom Scale (NMSS), autonomic symptoms are evaluated by The Scale for outcomes in Parkinson's disease for Autonomic Symptoms (SCOPA-AUT). Constipation was diagnosed by Functional Constipation Diagnostic Criteria Rome. The 39-item Parkinson's Disease Questionnaire (PDQ-39) was used to assess the quality of life. Sleep quality was evaluated by Parkinson's Disease Sleep Scale (PDSS) and excessive daytime sleepiness by Epworth Sleepiness Scale (ESS). Probable rapid eye movement sleep behavior disorder (p-RBD) was diagnosed by rapid eye movement sleep behavior questionnaire-Hongkong (RBDQ-HK). Restless leg syndrome (RLS) was diagnosed with the Cambridge Hopkins Restless Leg syndrome questionnaire (CH-RLSq). Cognition was used by the previously validated scale, Mini Mental State Examination (MMSE) and Montreal Cognitive Assessment (MoCA). Olfaction test was carried out by Hyposmia Rating Scale (HRS), and a proportion of patients was also ascertained by Sniffin's Sticks. Depression was diagnosed by Hamilton Depression Scale (HAMD). Symptom of fatigue was measured by PD fatigue severity scale (PFS). Wearing-off was evaluated by WOQ-9 and freezing gait by new freezing gait questionnaire scores (NFOGQ). Dyskinesis was evaluated by Rush Dyskinesia Rating Scale. DNA samples were extracted from peripheral blood and detected by Whole Exome Sequencing or Whole-genome sequencing. Plasma was obtained from venepuncture. All the participants were scanned by structural MRI to exclude obvious intracranial lesions and other parkinsonism such as MSA, PSP and WD.