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.

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.

Parkinson's disease (PD) is a common neurodegenerative disease characterized by bradykinesia,resting tremor,muscle rigidity,and abnormal gait posture.Ocular motor function test plays an important part in neurological examinations.It has been widely accepted that specific ocular motor patterns contribute to diagnosis of Parkinsonian syndrome including progressive supranuclear palsy and multiple system atrophy.However,recent studies have shown that patients of PD may also exhibit specific eye movement disorders,which will be helpful in the early diagnosis,evaluation and differential diagnosis of PD.In 2015,the Movement Disorder Society clinical diagnostic criteria for Parkinson's disease suggested that sustained staring evoked nystagmus could be used as an exclusive criterion for PD.The clinical features,detection methods and clinical significance of oculomotor dysfunction in PD are reviewed in this article.

Objective To explore the correlated factors and clinical features of cognitive impariment in parkinson's disease (PD).Methods A total of 419 patients with PD were collected from Xiangya Hospital of Centre-South University during Mar 1st,2017 to Nov 30th,2017.The cognitive functions of patients were assessed with the Mini-Mental State Examination (MMSE),and the basic information and the motor symptoms of 419 PD patients were selected at the same time.The PD patients were classified into three groups according to the MMSE score:PD with no cognitive impairment (PD-NC),mild cognitive impairment in PD (PD-MCI),and Dementia in PD (PD-D).The data were analyzed by SPSS 20.0.Results There were 156 patients with PD-MCI (37.2％) and 64 patients with PD-D (15.3％).The difference of sex and disease duration among three groups were not statistically significant (P ＞ 0.05).The significant difference was found among PD-D,PD-MCI,and PD-NC groups in age of onset,age,educational attainment,Unified Parkinson's disease Rating Scale (UPDRS)-Ⅱ score,UPDRS-Ⅲ score and Hoehn-Yahr stage (P ＜ 0.05).There were significant differences among three groups in MMSE score and its items (P ＜ 0.01).Logistics regression analysis found that the age of onset,educational attainment,and Hoehn-Yahr stage were the risk factors of cognitive impairment in PD patients (P ＜ 0.05).Conclusions Cognitive impairment is common in PD patients,and it is relevant to the age of onset,educational attainment and the severity of illness of PD patients.

Objective To investigate the prevalence of fatigue symptoms and investigate its related factors in patients with Parkinson's disease (PD).Methods The Parkinson's Fatigue Scale (PFS-16) was used to assess the fatigue status of 453 PD patients.These patients were divided into fatigue group (mean PFS-16≥3.3 defined as fatigue) and non-fatigue group.All of them completed the assessment of the relevant scale.Results Among 453 PD patients,there were 169 patients (37.3％) in fatigue group and 284 patients (62.7％) in non-fatigue group.Unified Parkinson's disease Rating Scale (UPDRS) and HoehnYahr (H-Y) staging in fatigue group were significantly higher than non-fatigue group (P ＜0.05).Motor symptoms,mental and emotional status and daily living ability are positively correlated with fatigue symptoms.Conclusions The motor symptoms and non-motor symptoms are more serious in PD patients with fatigue.The motor symptoms,mental and emotional status,daily living ability and Hoehn-Yahr (H-Y) stage are the main related factors of fatigue symptoms in PD patients.

Objective o investigate the clinical characteristics and relevant risk factors of freezing gait in patients with Parkinson's disease (PD).Methods A total of 570 consecutive PD patients were registered basic information and evaluated by Unified Parkinson's Disease Rating Scale (UPDRS) and New Freezing of gait questionnaire (NFOG-Q).They were divided into the PD with freezing gait group (188 cases) and non-freezing gait group.Results UPDRS score in each part (UPDRS-Ⅰ,UPDRS-Ⅱ,UPDRS-Ⅲ,UPDRS-Ⅳ) and Hoehn & Yahr stage of the PD freezing gait group was significantly higher than that of the non frozen gait group (P ＜ 0.05).Conclusions PD patients with frozen gait group experience more rapid PD progression than those without freezing of gait.The appearance of FOG is associated with the mental behavior and emotion,treatment complication,disease severity,and course of PD.

Objective To analyze the types and epidemiological characteristics of influenza virus in Xi'an during 2009 to 2017.Methods A total of 21 856 samples of throat swabs from patients with influenza like illness ( ILI) were collected from 5 national influenza sentinel surveillance hospitals from August 2009 to December 2017.Influenza virus nucleic acid was detected by real-time fluorescence quantitative PCR and virus types were confirmed , chick-embryo cells or Madin-Darby canine kidney (MDCK) cells were used to isolate influenza virus.SPSS 18.0 software was used for data analysis.Results The positive detection rate of influenza virus was 16.19%(3 539/21 856), the seasonal influenza A virus subtypes including H1, H3, the new type H1and H7 accounted for 62.39%(2 208/3 539), influenza B virus subtypes including Victoria , Yamagata and unclassified type B accounted for 37.50%( 1 327/3 539), and the mixed influenza virus infection accounted for 0.11%(4/3 539).The positive rate of influenza virus detected in different years was significantly different ( χ2＝357.651, P ＜0.01).During January to March the major influenza A viruses accounted for 49.07%(947/1 930), influenza B viruses accounted for 50.93%(983/1 930); during October to December , the influenza A viruses accounted for 78.07%( 1 061/1 359 ), and influenza B viruses accounted for 21.93%( 298/1 359 ); there was significant difference in composition of type A virus and type B virus between different seasons ( χ2＝ 550.06, P＜0.05).The positive detection rate of influenza virus in patients with ILI of age groups 0-3 years,＞3-7 years,＞7-13 years,＞13-18 years,＞18-24 years,＞24-60 years and ＞60 years were 12.61%, 19.41%, 19.66%, 22.98%, 14.91%, 13.50% and 12.84%, respectively ( χ2＝202.52, P＜0.05).Conclusion Influenza A virus is common in Xi'an,winter and spring are the peak seasons for influenza epidemics.It is recommended for susceptible people to take influenza vaccination .

Diverticulum ; diagnosis ; Eyelids ; pathology ; Fistula ; diagnosis ; Humans ; Infant ; Male

OBJECTIVE: To investigate the mutation of small sequence changes in microRNA-7 gene in Chinese patients with Parkinson's disease (PD). METHODS: We analyzed miR-7 variants in 225 PD patients from Chinese Han group by DNA sequence. RESULTS: None of the patients had miR-7 variants. CONCLUSION MiR-7 variation is not associated with PD in Chinese patients.
Aged ; Base Sequence ; China ; ethnology ; Female ; Humans ; Male ; MicroRNAs ; genetics ; Middle Aged ; Molecular Sequence Data ; Mutation ; Parkinson Disease ; genetics

OBJECTIVETo study pantothenate kinase 2 (PANK2) gene mutations in Chinese patients with Hallervorden-Spatz syndrome (HSS).

METHODSPANK2 gene mutations were detected by PCR, DNA sequence analyses, restriction enzyme digestion and PCR-single strand conformation polymorphism in 5 patients, 3 unaffected family members and 51 unrelated healthy persons.

RESULTSNovel compound heterozygous PANK2 gene mutations, A803G and T1172A, in exons 3 and 5, respectively, were found in one patient. At the same time, 3 types of single nucleotide polymorphisms, -38 t>a in 5'-UTR, IVS1+42 c>a and G77C in exon 1, were confirmed; among them, -38 t>a, IVS1+42 c>a, were first reported.

CONCLUSIONPANK2 gene mutations can cause HSS in Chinese patients.

Adolescent ; Adult ; Base Sequence ; Child ; China ; DNA Mutational Analysis ; Female ; Humans ; Male ; Middle Aged ; Mutation ; Pantothenate Kinase-Associated Neurodegeneration ; genetics ; Pedigree ; Phosphotransferases (Alcohol Group Acceptor) ; genetics ; Polymerase Chain Reaction ; Polymorphism, Single-Stranded Conformational ; Young Adult