In 2004, the teams of Andrew Singleton and Thomas Gasser first reported the presence of a mutation in the gene encoding leucine-rich repeat kinase 2 (LRRK2) in patients with Parkinson's disease (PD). The frequency of LRRK2 mutations is about 10% in familial PD and about 1% to 5% in sporadic PD. LRRK2-related PD (LRRK2-PD) is one of the most common forms of single-gene, autosomal dominant PD, especially among specific ethnic groups. The most common mutation in LRRK2, G2019S, varies greatly in frequency between ethnic groups: North-African Arabs have the highest mutation frequency, about 40% of the PD population, and the Asian PD population has the lowest mutation frequency, only 0.1%. G2385R and R1628P are common risk sites for LRRK2, and the frequency of those variants in the Chinese PD population is about 5%-10%. In addition, patients with LRRK2-PD usually exhibit a late onsetform, and some cases are similar to idiopathic PD (IPD) in terms of clinical features; other cases of LRRK2-PD exhibit a slower progression of motor and non-motor symptoms and are more prone to motor complications than are IPD cases. LRRK2-PD and IPD cases respond similarly to dopaminergic therapy.

The Chinese Parkinson's Disease with LRRK2 Variants Registry (CPD-LRRK2R) is a multicenter, nationwide PD cohort study initiated by Xiangya Hospital, Central South University (clinicaltrials.gov ID: NCT03523104). The CPD-LRRK2R will provide authorized individuals with an online, user-friendly, encrypted registration platform. The contents of the CPD-LRRK2R include demographic characteristics, clinical features, environmental factors, family history, comorbid phenomena, and findings of brain imaging, genomics, treatment, assessments of neuropsychology, and quality of life. The CPD-LRRK2R focuses on the clinical features, imaging features, natural history, and prognosis of LRRK2-PD in China.

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.