Parkinson's Disease (PD) is a common neurodegenerative disease that affects 1.7% of the population over 65 and up to 4% in those elder than 80. Approximately 10 percent of individuals with PD have a family history of this disorder. Familial PD (FPD) is mainly inherited in an autosomal dominant (AD) or autosomal recessive (AR) pattern. AD-PD is diagnosed when an affected individual has at least one affected parent, and AR-PD is diagnosed when there are two or more affected siblings with unaffected parents, or one affected individual with unaffected parents who are close relatives of each other. There are an estimated 200,000 patients with FPD in China, but the vast majority of whom do not receive early diagnosis, treatment, and professional genetic counseling.

Mutations in more than 20 genes have been reported to cause FPD. Genetic screening for known causative mutations in patients with FPD can result in the genetic diagnosis of FPD and early detection of asymptomatic carriers. Early diagnosis and intervention may effectively delay the progression of PD. Moreover, the elucidation of FPD-related pathogenic mutations also may bring new hope for FPD treatment, and clinical drug trials for LRRK2, SNCA, GBA, and other gene mutations are expected to yield precise treatment of FPD. Future interventional therapies will likely be targeted at specific PD subgroups based on the genotype (e.g., LRRK2-related, SNCA-related, or GBA-related).

The Chinese Familial Parkinson's Disease Registry (CFPDR) study, which was registered on ClinicalTrials.gov (NCT03508986), is a multicenter, national FPD cohort study initiated by Xiangya Hospital, Central South University. The CFPDR will provide a user-friendly and encrypted registration platform for authorized persons. The registry includes demographic information, clinical characteristics, environmental factors, family history, and brain imaging, genomics, treatment, and neuropsychological assessment. The CFPDR focuses on FPD epidemiology, genetic factors, environmental factors, clinical phonotypes (motor symptoms, non-motor symptoms, motor complications, etc.), natural history, imaging, and genomics. Its aim is to provide patients with FPD and their families with a professional consultation and patient registration platform, and to provide a research and cooperation platform for PD researchers as China's FPD clinical research platform and resource database.

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), 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.