Today is:2020年05月27日 星期三
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Parkinson's Disease & Movement Disorders Multicenter Database and Collaborative Network in China(PD-MDCNC)v7.0 中国帕金森病及运动障碍疾病多中心数据库及协作网

CPD-PARKINR

The Chinese Parkinson’s Disease with PARKIN Variants Registry(CPD-PARKINR)

Background

Parkinson's disease (PD) is one of the most common neurodegenerative diseases, and its etiology and pathogenesis are not completely clear. About 10% of patients with PD have a family history thereof. Since the discovery of genetic defects as a causative factor of PD in recent years, the importance of genetic factors in the pathogenesis of PD has attracted much attention. So far, more than 20 disease-causing genes and 90 independent, risk-associatedvariants have been identified. Patients with an onset age less than 50 years are defined as  early-onset PD (EOPD), and the correlation with genetic factors increases with the decrease of onset age. Mutations in parkin are identified in about 40%–50% of patients with autosomal recessive early-onset PD (AREP), and in about 10%–20% of sporadic EOPD.A series of retrospective studies have been conducted on parkin-associated PD at home and abroad, revealing that it is clinically characterized by an early age of onset, slow progression, common presentation as dystonia, relatively low risk of cognitive impairment, excellent response to levodopa, and frequent emergenceof dyskinesias. However, in a subgroup of these patients, there is some variance in the onset age, rate of disease progression, and drug efficacy. There is a lack of prospective studies in which the specific mechanism of EOPD is explored.

The Chinese Parkinson 's Disease with Parkin Variants Registry (CPD-parkinR) is a national, multicenter study launched by Xiangya hospital, Central South University.CPD-parkinR will provide a user-friendly, online, encrypted registration platform for authorized personnel. It includes information on demographics, clinical characteristics, environmental factors, family history, brain imaging, genomics, treatments, neuropsychological evaluation, and life quality assessments. CPD-parkinR focuses on environmental factors, clinical characteristics (motor symptoms, non-motor symptoms, motor complications, etc.), natural history of disease, radiomics, genomics, metagenomics, and molecular markers of parkin-associated PD in China.

Xiangya Hospital was founded in 1906 and is a Grade III, Level A hospital under the direct control of the National Health Commission. It is affiliated to Central South University, a university under direct control of the Ministry of Education. Xiangya Hospital is an important center of clinical diagnosis and treatment, medical education, and scientific and technological innovation. In the early 20th century, Yale alumni created the Yale-China Association. In 1906, Edward H. Hume (1876-1957) was appointed by association to establish Yale Hospital in Changsha. Eight years later, the Yale Hospital was renamed “Xiangya Hospital” when the Hunan Provincial Government entrusted the Yuqun Society and Yale-China Association to start Xiangya Medical School, the first higher medical education institution jointly established by China and the United States.

The Subspecialty of Neurodegenerative and Genetic Diseases, Department of Neurology, Xiangya Hospital, Central South University, is mainly engaged in clinical and basic research of neurodegenerative and genetic diseases such as PD, Alzheimer's disease (AD), essential tremor (ET), motor neuron disease (MND), Spinocerebellar ataxia (SCA), Charcot-Marie-Tooth (CMT) disease, Hereditary spastic paraplegia (SPG), Meuronal intranuclear inclusion disease (NIID), and Huntington's disease (HD). Academic leaders and PI: Beisha Tang, Zhuohua Zhang, Xinxiang Yan, Lu Shen, Hong Jiang, Zhiquan Yang, Weihua Liao, Shuo Hu, Jifeng Guo, Junling Wang, Kai Yuan, Jian Qiu, Zhonghua Hu, Jinchen Li, etc.

Research plan
Establishment of a multicenter parkin cohort of PD in China ...

This clinical cohort consists of three groups: a De novo parkin cohort (disease duration less than 3 years), an early-onset parkin cohort (onset age ≤50 years), and an asymptomatic parkin cohort (members with a parkin mutation but not PD).

Inclusion criteria: 1) clinically diagnosed with PD; 2) having family members with PD; 3) age ≥18 and ≤50 years; 4) having a parkin mutation; 5) willing to provide written informed consent; and 6) willing to cooperate in sample collection and follow-up. Those who meet 1) or 2) and 3), 4), 5), and 6) are eligible for enrollment.

Exclusion criteria: 1) having severe mental illness, severe cardio-cerebrovascular disease, or severe trauma; 2) unwilling to cooperate in sample collection or follow-up; 3) unwilling to provide informed consent. Participants who meet any of the conditions are ineligible for enrollment.

We will collect demographic information (name, gender, ethnicity,age, height, weight, educational degree, home address, and contact information) and clinical data (onset age, disease duration, disease development, medication compliance, patient history, family history, and history of epidemiology) of the participants. Moreover, all of the following assessments will be completed:the Unified Parkinson’s Disease Rating Scale (UPDRS version 3.0), Hoehn and Yahr Scale, Mini-mental State Examination (MMSE), and the Montreal Cognitive Assessment (MoCA), and so on. Serum, plasma, anticoagulant, and fecal samples will be collected, and brain imaging examinations and genomic tests (WGS or WES) will be conducted.

Clinical characteristics of the parkin cohort of PD in China

Based on these works, we started the CPD-parkinR-Clinical Feature Study (CPD-parkinR-CFS) in July 2020, and 300 patients with parkin-associated PD will be recruited in studies of their motor symptoms, non-motor symptoms, motor complications, brain imaging findings, and biomarkers

Modifier of the parkin cohort of PD in China

Based on these works, we  started the CPD-parkinR-Modifier Study (CPD-parkinR-MS). We will recruit 300 patients with parkin-associated PD and conduct WGS and an environmental factor investigations to determine modifying factors.

Administrator: Jifeng Guo Email:pd_mdcnc@163.com。

We sincerely invite all colleagues to join PD-MDCNC health cohort study and achieve collaboration, innovation, co-construction and sharing by multicenter cooperation.