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

CEOPDR

The China Early-Onset Parkinson’s Disease Registry(CEOPDR)

Background

Parkinson's disease (PD) is a common degenerative disease characterized by bradykinesia, resting tremor and rigidity. Although PD is more common in the older population, some patients experience onset before the age of 50, in which case the disease is known as early-onset PD (EOPD). Depending on the age of onset, EOPD can be further subdivided into juvenile PD (JPD) and young-onset PD (YOPD). EOPD accounts for about 10% of the PD population. Compared to late-onset PD (LOPD), EOPD has an early onset age, a long course of disease, relatively atypical clinical symptoms, and is prone to be misdiagnosed. Genetic studies revealed that an earlier age of onset is associated with a higher probability of carrying PD disease-causing gene mutations, suggesting that genetic factors play an important role in the pathogenesis of EOPD. There are an estimated 200,000 EOPD patients in China, and the vast majority of EOPD patients do not receive early diagnosis, treatment, or professional genetic counseling.

The China Early-Onset Parkinson's Disease Registry (CEOPDR) study, registered on ClinicalTrials.gov (NCT03508960), is a multicenter, national EOPD cohort study initiated by Xiangya Hospital, Central South University. The CEOPDR will provide a user-friendly and encrypted registration platform for authorized persons. The registry includes demographic information, clinical characteristics, environmental factors, family history, brain imaging, genomics, treatment, and neuropsychological assessment. The CEOPDR focuses on EOPD epidemiology, genetic factors, environmental factors, clinical phonotypes (motor symptoms, non-motor symptoms, motor complications, etc.), natural history of disease, imaging, genomics, etc. Its aim is to provide patients with EOPD and their families with a professional consultation and patient registration platform, and also to provide a research and cooperation platform for PD researchers as China's EOPD clinical research platform and resource base.

Xiangya Hospital was founded in 1906 and is a Class-A, Grade-3 (top level in China) hospital under the direct control of the National Health Commission. It is affiliated to Central South University which is under the 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, American medical doctor Edward H. Hume (1876-1957) was appointed to China by the Yale-China Association and founded Yale Hospital in Xipailou Street, Changsha. In 1914, entrusted by the Hunan provincial government, the Yuqun Society collaborated with the Yale-China Association to set up Xiangya Medical School—the first higher medical education institution that was cofounded by China and the United States. Yale Hospital was renamed “Xiangya Hospital.” “Xiang” is the abbreviation of Hunan Province and “ya” is a transliteration of Yale.

The Subspecialty of Neurodegeneration and Genetic Diseases, Department of Neurology, Xiangya Hospital, Central South University, is mainly engaged in clinical and basic research of neurodegeneration 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: Prof. Beisha Tang, Prof. Zhuohua Zhang, Prof. Xinxiang Yan, Prof. Lu Shen, Prof. Hong Jiang, Prof. Zhiquan Yang, Prof. Weihua Liao, Prof. Shuo Hu, Associate Prof. Jifeng Guo, Associate Prof. Junling Wang, Prof. Kai Yuan, Prof. Jian Qiu, Prof. Zhonghua Hu, Prof. Jinchen Li, etc.

Research plan
Establishing a large and multi-center EOPD cohort in China (...

According to the Chinese Expert Consensus in the Diagnosis and Treatment of Early-Onset Parkinson's Disease, patients with EOPD are recruited in multiple centers across China. Demographic information and clinical characteristics need to be included in this registry. A comprehensive neurological assessment will be performed with standardized questionnaires, including the Unified Parkinson's Disease Rating Scale (UPDRS), the Hoehn and Yahr scale (H&Y), the Non-Motor Symptoms Scale (NMSS), the Mini-Mental State Examination (MMSE), the Scale for Outcomes in Parkinson's Disease-Autonomic Dysfunction (SCOPA-AUT), the Rome III criteria for functional constipation, the 39-item Parkinson's Disease Questionnaire (PDQ-39), the Parkinson Disease Sleep Scale (PDSS), the Epworth Sleepiness Scale (ESS), the RBD Questionnaire-Hong Kong (RBDQ-HK), the Cambridge-Hopkins diagnostic questionnaire for RLS (CH-RLSq), the Hyposmia Rating Scale (HRS), the Hamilton Rating Scale for Depression (HAMD), the Parkinson Fatigue Scale (PFS), the New Freezing of Gait Questionnaire (NFOG-Q), and the 9-Item Wearing-Off Questionnaire (WOQ-9). Cranial magnetic resonance imaging and whole genome or whole exome sequencing will be performed.

Investigating the clinical characteristics of EOPD

Based on the above mentioned work, the CEOPDR Clinical Feature Study (CEOPDR-CFS) was launched in July 2020 to conduct research on motor symptoms, motor complications, non-motor symptoms, brain imaging characteristics, and genotype-phenotype analysis combined with genetic test results in the large multicentric EOPD cohort

Decoding the genetic architecture of EOPD

The CEOPDR Genomics Study (CEOPDR-GS), which was launched in July 2020, aims to screen the known PD pathogenic genes related to PD, and identify novel PD-related genes in EOPD using multiplex ligation-dependent probe amplification (MLPA) and next generation sequencing (NGS) in 3,000 EOPD cases

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.