Corelation Study Of Sleep Disorders And Movement Disorders

Part one: Exploring the association between Restless Legs Syndrome and Essential TremorObjective: Several Single Nucleotide Polymorphisms(SNPs)have been reported possibly associated with Restless legs Syndrome(RLS).The aim of our study was to firstly replicate their findings in Chinese RLS population.Meanwhile,we tested RLS genetic factors in ET patients,trying to find genetic link between these two diseases.Methods: Firstly,we examined 20 SNPs in 6 risk loci(MEIS1,BTBD9,PTPRD,MAP2K5/SKOR1,TOX3 and Intergenic region of 2p14)in 200 ET patients and 201 controls,which were found associated with Caucasian RLS in Genome-wide association study(GWAS);Secondly,several candidate genes(HMOX1,HMOX2,VDR,IL17 A,IL1B,NOS1 and ADH1B)for RLS have been reported in case control studies.12 SNPs located in those genes were selected and tested in 158 RLS patients,225 ET patients and 229 controls for investigating their relationship with ET and RLS.Results: A haplotype block of MAP2K5/SKOR1,consisting of five SNPs(rs4489954,rs3784709,rs2241420,rs1026732 and rs6494696: GCGGG),was significantly associated with ET(OR=1.96,p<0.001);rs1143633 of IL1B(OR=2.57,p=0.003,recessive model)was associated with the risk of ET in Chinese population;Candidate genes for RLS,including HMOX1,HMOX2,VDR,IL17 A,IL1B,NOS1 and ADH1 B,were not associated with the risk of RLS in Chinese population.Conclusions: HMOX1,HMOX2,VDR,IL17 A,IL1B,NOS1 and ADH1 B were not associated with the risk of RLS in Chinese population.MAP2K5/SKOR1 and IL1 B rs1143633 were found associated with Chinese RLS patients.There may be a genetic link between RLS and ET,but certainly more studies are needed to verify that.Part two: Exploring the association between Rapid eye movement sleep behavior disorder and ParkinsonismObjective: Rapid eye movement sleep(REM)behavior disorder(RBD)has been well established as a risk factor for neurodegenerative disease.The aim of our study was to estimate the risk for developing Parkinsonism in a large cohort of community populationMethods: Participants,aged 50 years or over,were selected from Wuliiqiao(urban)and Malu(rural).Diagnosis of probable RBD(p RBD)was based on different RBD screening questionnaire.Disease risk was assessed with a Cox proportional hazard model among p RBD-subjects and p RBD+ subjects.We used logistic regression to assess risk factors for conversion in p RBD patients.Results: 84 p RBD+ subjects and 2252 p RBD-subjects were followed for a mean of 65.9 months in Wuliqiao community,7 subjects in the p RBD+ group developed Parkinsonism and 29 subjects in the p RBD-group turned out to have Parkinsonism.166 p RBD+ subjects and 888 p RBD-subjects were followed for a mean of 45.4 months in Malu community,7 p RBD+ subjects and 10 p RBD-subjects turned out to have Parkinsonism.In the full adjusted model,p RBD confers a 6.54-fold increased risk of developing Parkinsonism in Wuliqiao cohort,and in Malu the increased risk would be 6.42-fold.After integration of two cohorts,the increased risk would be 5.19-fold.In addition,we found that RBD patients with higher Mini-Mental State Examination(MMSE)score and moderate physical exercise were at lower risk of developing Parkinsonism,while male and diabetes were more common among those who converted.Conclusions: We found that p RBD is a strong risk factor for Parkinsonism in both urban and rural population.Gender,physical exercise,MMSE score and diabetes may be associated with conversion of p RBD to Parkinsonism.