Association between Parkinson’s disease (PD) and Gaucher disease (GD), caused by a defect of glucocerebrosidase activity due to mutations in the gene encoding the lysosomal enzyme glucocerebrosidase (GBA), was first reportedin 1996. In 2004, GBA was first confirmed as a risk gene for PD among Ashkenazi Jews. The precise risk of developing PD for individuals with GBA mutations is not known, but it has been estimated at 4- to 20-fold that of the risk for an individual in the general population. While GBA pathogenic variants have been identified in 5%-10% of individuals with PD, the frequency differs depending on ethnicity. The frequency of GBA variants is 10.7%-31.3% in Ashkenazi Jewish patients with PD, while it is 2.3%-9.4% in non-Ashkenazi Jewish patients with PD. L483P and N409S are the main GBA variants in European, non-Ashkenazi Jewish patients with PD, while L483P is the main GBA variant in Chinese patients with PD. Besides, GBA mutations seem to confer a slight modification of phenotype in PD. PD patients with GBA mutations reportedly exhibit an earlier age at onset, a higher prevalence of the more severe akinetic-rigid form of the disease, and a worse cognitive profile compared to those without GBA mutations.

The Chinese Parkinson's Disease with GBA Variants Registry (CPD-GBAR) study is a multicenter, nationwide PD cohort study initiated by Xiangya Hospital, Central South University (the clinicaltrials.gov identifier isNCT03523065). The CPD-GBAR will provide authorized persons with an online, user-friendly, and encrypted registration platform. The contents of the CPD-GBAR include demographic information, clinical features, environmental factors, family history, comorbid phenomena, brain imaging, genomics, treatment, and assessments of neuropsychology. The CPD-GBAR focuses on the clinical features, imaging features, natural history, and prognosis of GBA-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.