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

CETR

The Chinese Essential Tremor Registry (CETR)

Background

Essential tremor (ET) is one of the most common movement disorders. Epidemiological studies revealed that the prevalence of ET is about 0.9% in the population, rises to 4.6% in those over 65 years of age, and risesto 20% in those over 95 years of age. Patients with ET often have varying degrees of motor impairment or disability, resulting in loss of work capacity and decline in living ability, which causes a serious personal and socio-economic burden. ET is mainly characterized by action tremor of 4-12 Hz in both upper limbs, and the tremor could also involve the head, lower limbs, trunk, and other regions. ET–PLUS may be accompanied by impaired tandem gait, questionable dystonic posturing, mild memory impairment, and other neurological soft signs. There are also non-motor symptoms such as depression, anxiety, and fatigue. Approximately 30%-70% of patients with ET exhibit familial aggregation, most of which are inherited in an autosomal dominant pattern. According to incomplete estimates, there are about six million patients with ET in China.

The Chinese Essential Tremor Registry (CETR) study is a multi-center, national ET cohort study initiated by Xiangya hospital, Central South University. The CETR will provide an online, user-friendly, encrypted registration platform for authorized personnel. The contents of the CETR include demographic information, clinical features of tremor, environmental factors, family history, comorbidities, imaging data, detailed information concerning treatment and prognosis, health-related quality of life, and neuropsychological assessment. The CETR will be helpful in understanding the epidemiological characteristics, environmental factors, genetic factors, genomics, radiomics, clinical features (tremor classification and neurological soft signs, such as impaired tandem gait, questionable dystonic posturing, mild memory impairment, etc.), and the natural history of ET in China. The CETR will also serve as China's ET clinical research platform and resource base for rapid identification and follow-up of potential patients.

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 Schoolthe 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), Neuronal 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 multicenter cohort of 5,000patients with ET a...

We will recruit 5,000 patients with ET and ET plus using diagnostic criteria from the 2017 International Parkinson and Movement Disorder Society (MDS) consensus statement. Demographic information (name, gender, age, height, weight, and ethnicity), clinical data (present status, clinical history, family history, and treatment), TETRAS, MMSE, MOCA, gait and balance scale, and dystonia questionnaires will be obtained from each patient. In addition, each patient will undergo brain magnetic resonance imaging and genomic testing (WGS or WES)

Clinical characteristics of ET and ET plus in China

The CETR-Clinical Feature Study (CETR-CFS) of the Chinese multicenter ET and ET Plus cohort was launched in July 2020. The CETR-CFS plan isto recruit 1,000 patients with ET and ET Plus for studies on tremor typing, cognitive function, gait and balance disturbance, dystonia, and brain magnetic resonance imaging

Genome-wide association study (GWAS) of ET and ET Plus in Ch...

Based on the above work, we started the genome-wide association study (GWAS) research of ET and ET Plus in China (CETR-GWAS) in July 2020. First, we will recruit 2,000 patients with ET and normal controls (“found queue”) and perform WGS and the genome-wide association study (GWAS), to explore susceptibility loci associated with ET (candidate susceptibility loci). A further 3,000 patients with ET patients and normal controls (“validation queue”) will be recruited for validation of the candidate susceptibility loci.

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.