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.

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

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.

Essential tremor(ET)is one of the most common movement disorders, with a prevalence of 4.6% in people over 65 years old.Action tremor of both upper limbs at 4-12 Hz action tremor in both upper limbs is the main clinical feature of ET patients.ET was previously considered to be a benign isolated symptomatic disease, but in recent years, researches have found that ET is a family of diseases with high clinical and genetic heterogeneities.In addition to tremor, it can also be accompanied by soft neurological signs and various non-motor symptoms, leading to different degrees of function impairment in patients.Early comprehensive evaluation and long-term follow-up of patients with ET are essential.The standardized scale is the most important tool for ET assessment.This article reviews various tremor assessment scales.

Parkinson′s disease (PD) is a common degenerative disease of central nervous system. PD is closely related to gastrointestinal diseases in comorbidity studies, and the “gut brain axis” disorder may be involved in their relationship. In recent years, relevant studies have suggested that there are genetic and epidemiological evidences to link PD with inflammatory bowel disease (IBD). This article reviews the relationship between PD and IBD from the genetic evidence and the relevant concept of “gut brain axis”.

TAF1 gene encodes TATA-box binding protein-associated factor-1, which serves as a scaffold for the assembly of the transcription factor ⅡD and participates in the transcription of many genes in eukaryotic cells. Human TAF1 possesses intrinsic protein kinase activity, histone acetyltransferase activity as well as ubiquitin-activating and conjugating activity, and these activities have been mapped to different domains. Currently, TAF1 has been identified as the causative gene of X-linked dystonia-parkinsonism and X-linked mental retardation. What′s more, a series of functional analysis have demonstrated the importance of TAF1 gene in cell cycle and cell growth, and its relationship with neurodevelopment and tumorigenesis has also been reported. This review summarizes the research progress of TAF1 including structure, phenotypes and biological function.

Objective:To summarize and analyze the clinical data of Chinese patients with colony-stimulating factor 1 receptor (CSF1R)-related leukoencephalopathy, and clarify the phenotypic and genetic characteristics of Chinese patients.Methods:Medical history of patients with CSF1R-related leukoencephalopathy diagnosed from April 1, 2018 to January 31, 2021 in the department of neurology of 22 hospitals in China was collected, and scores of Mini-Mental State Examination (MMSE), Montreal Cognitive Assessment Scale (MoCA), magnetic resonance severity scale were evaluated. Group comparison was performed between male and female patients.Results:A total of 62 patients were included, and the male-female ratio was 1∶1.95. The age of onset was (40.35±8.42) years. Cognitive impairment (82.3%, 51/62) and motor symptoms (77.4%,48/62) were the most common symptoms. The MMSE and MoCA scores were 18.79±7.16 and 13.96±7.23, respectively, and the scores of two scales in male patients (22.06±5.31 and 18.08±5.60) were significantly higher than those in females (15.53±7.41 , t=2.954, P=0.006; 10.15±6.26, t=3.328 , P=0.003). The most common radiographic feature was bilateral asymmetric white matter changes (100.0%), and the magnetic resonance imaging severity scale score was 27.42±11.40, while the white matter lesion score of females (22.94±8.39) was significantly higher than that of males (17.62±8.74 , t=-2.221, P<0.05). A total of 36 CSF1R gene mutations were found in this study, among which c.2381T>C/p.I794T was the hotspot mutation that carried by 17.9% (10/56) of the probands. Conclusions:The core phenotypic characteristics of CSF1R-related leukoencephalopathy in China are progressive motor and cognitive impairment, with bilateral asymmetrical white matter changes. In addition, there exist gender differences clinically, with severer cognitive impairment and imaging changes in female patients. Thirty-six CSF1R gene mutations were found in this study, and c.2381T>C/p. I794T was the hotspot mutation.