Background::Genetic variants of dopaminergic transcription factor-encoding genes are suggested to be Parkinson’s disease (PD) risk factors; however, no comprehensive analyses of these genes in patients with PD have been undertaken. Therefore, we aimed to genetically analyze 16 dopaminergic transcription factor genes in Chinese patients with PD.Methods::Whole-exome sequencing (WES) was performed using a Chinese cohort comprising 1917 unrelated patients with familial or sporadic early-onset PD and 1652 controls. Additionally, whole-genome sequencing (WGS) was performed using another Chinese cohort comprising 1962 unrelated patients with sporadic late-onset PD and 1279 controls.Results::We detected 308 rare and 208 rare protein-altering variants in the WES and WGS cohorts, respectively. Gene-based association analyses of rare variants suggested that MSX1 is enriched in sporadic late-onset PD. However, the significance did not pass the Bonferroni correction. Meanwhile, 72 and 1730 common variants were found in the WES and WGS cohorts, respectively. Unfortunately, single-variant logistic association analyses did not identify significant associations between common variants and PD. Conclusions::Variants of 16 typical dopaminergic transcription factors might not be major genetic risk factors for PD in Chinese patients. However, we highlight the complexity of PD and the need for extensive research elucidating its etiology.

Rare diseases are diseases whose number of patients accounts for 0.065%-0.1% of the total population. The incidence rate of a single rare disease is low, but there are many kinds of rare diseases. According to statistics, there are more than 20 million patients with various rare diseases, which shows that rare diseases are not rare. About 40% of rare diseases are neurorare, including neuroimmune diseases (such as autoimmune encephalitis) and neurogenetic diseases (such as spinocerebellar ataxia, leukodystrophy, and intranuclear inclusion body disease). Neurological rare diseases are progressive and often lifelong, and in severe cases can be life-threatening. However, rare neurological diseases face numerous difficulties and challenges, such as difficulties in seeking medical treatment, diagnosis, and treatment. Therefore, we urgently need to pay attention to rare neurological diseases, strengthen our understanding of rare diseases, improve the level of diagnosis and treatment, service quality, carry out popular science education and innovative clinical research, in order to establish a sound diagnosis and treatment system for rare neurological diseases.

Anti N-methyl-D-aspartate receptor (NMDAR) encephalitis is a rare autoimmune encephalitis, and its diverse etiology and clinical manifestations have attracted attention. However, the etiology and pathogenesis of anti NMDAR encephalitis are not yet fully understood, and its diagnosis and treatment still have certain limitations. This review mainly explores the environmental genetic factors that drive the occurrence of diseases and the biological indicators that are beneficial for diagnosis. It also elaborates on the current immune regulation and emerging treatment pathways, points out potential targeted interventions, and looks forward to the challenges and future development directions they face.

Anti γ-aminobutyric acid B receptor encephalitis is a type of autoimmune encephalitis characterized by the production of self specific antibodies in cerebrospinal fluid and/or serum, with seizures, memory loss, and consciousness disorders as the main clinical manifestations. This type of encephalitis caused by autoantibodies has the same pathological characteristics as other peripheral encephalitis. There are many different etiologies and pathophysiological processes that lead to the occurrence of limbic encephalitis, and it is necessary to understand their heterogeneity in order to find effective treatment methods. This article will systematically review the epidemiology, pathogenesis, clinical characteristics, diagnosis, treatment, and prognosis of anti γ-aminobutyric acid B receptor encephalitis, aiming to enhance clinical doctors' understanding of this disease and provide reference for clinical decision-making.

Scientific and efficient collaborative innovation system plays a key role in driving the construction and development of national clinical medical research centers. As the entity in building the national clinical medical research center for geriatric diseases, Xiangya Hospital of Central South University has carried out the " two-in-one integration" construction of the center hospital based on the principle of " simultaneous construction of the center and the hospital" . Leveraging the research, promotion and application of key technologies for common diseases and frequently occurring diseases among the elderly, a collaborative innovation system has come into being since 2018, consisting of three organically linked platforms of technology support platform, core research platform and public service platform, as well as four support systems of collaborative innovation network support system, innovation management system support system, special innovation fund support system and innovation ability training support system. By 2021, the collaborative innovation system has been completed in general, and desirable results have been achieved in clinical research, achievements translation and technology promotion for geriatric diseases. These achievements have strongly promoted the development of China′s elderly health sector.

Humans ; Parkinson Disease/therapy* ; Phototherapy ; Treatment Outcome

Objective To investigate the effects of DJ-1 A39S mutation in Parkinson’s disease（PD）and SUMO modification of DJ-1 on DJ-1 mitochondrial localization. Methods Five COS-7 cell lines that can stably express wild type，A39S mutant，K130R mutant，A39S K130R double mutant DJ-1 protein and SUMO-1 protein were constructed. The transfection results were detected by Western blot，double enzyme digestion and PCR sequencing. The expression and subcellular localization of DJ-1 protein were observed by Western blotting，confocal microscope and immunofluorescence.Results Immunofluorescence showed that DJ-1 protein was mainly distributed in the cytoplasm and also in the nucleus.Some wild-type and K130R DJ-1 proteins were distributed in mitochondria，most of A39S and A39S-K130R mutant DJ-1 proteins were transferred to mitochondria，and SUMO-1 was mainly distributed in the nucleus and around the nucleus.Immunofluorescence co localization showed that four DJ-1 proteins were colocalize with SUMO-1 protein. Conclusion The pathogenic mutation A39S of DJ-1 transferred DJ-1 protein from cytoplasm to mitochondria；DJ-1 and SUMO-1 have colocalization，and they may interact.mitochondrial localization.Methods Five COS-7 cell lines that can stably express wild type，A39S mutant，K130R mutant，A39S K130R double mutant DJ-1 protein and SUMO-1 protein were constructed. The transfection results were detected by Western blot，double enzyme digestion and PCR sequencing.The expression and subcellular localization of DJ-1 protein were observed by Western blotting，confocal microscope and immunofluorescence.Results Immunofluorescence showed that DJ-1 protein was mainly distributed in the cytoplasm and also in the nucleus.Some wild type and K130R DJ-1 proteins were distributed in mitochondria，most of A39S and A39S-K130R mutant DJ-1 proteins were transferred to mitochondria，and SUMO-1 was mainly distributed in the nucleus and around the nucleus.Immunofluorescence colocalization showed that four DJ-1 proteins were colocalize with SUMO-1 protein.Conclusion The pathogenic mutation A39S of DJ-1 transferred DJ-1 protein from cytoplasm to mitochondria；DJ-1 and SUMO-1 have colocalization，and they may interact.

Excessive daytime sleepiness (EDS) is a common sleep disturbance in Parkinson's disease (PD), and the prevalence of EDS in PD patients is obviously higher than that in the normal population. EDS not only seriously influences the quality of life of PD patients but also increases the risk of accidents while driving and the risk of falling, therefore, timely recognition and intervention of EDS are of great importance. In order to deepen the understanding of EDS, this review will summarize the recent advance in epidemiology, etiology and pathogenesis, clinical significance, neuroimaging, clinical assessment, and clinical management of EDS.