中华神经科杂志最新文献

{"title":"Impacts of chronic sleep deprivation on learning and memory, autophagy and neuronal apoptosis in mice","authors":"Hongyan Qiu, Song Li, W. Le","doi":"10.3760/CMA.J.ISSN.1006-7876.2015.07.005","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.1006-7876.2015.07.005","url":null,"abstract":"Objective \u0000To establish chronic sleep deprivation mouse model, evaluate the learning and memory ability of mice and observe autophagy and apoptosis levels in mouse brain. \u0000 \u0000 \u0000Methods \u0000C57BL/6 mice (n=20) were randomly separated into sleep deprivation group and control group. After 2-month sleep deprivation by using an adapted multiple platform method, the behavioral performance of mice was measured by IntelliCage system. The expression of microtubule associated protein 1 light chain 3-Ⅱ (LC3-Ⅱ) and Beclin-1 was detected by Western blotting. Confocol microscopy was used to observe autophagosome. In addition, terminal deoxynucleotidyl transferase-mediated dUTP nick-end labeling (TUNEL) staining was performed to detect neuronal apoptosis level in mouse brain. \u0000 \u0000 \u0000Results \u0000The results of behavioral test showed that the incorrect visit ratio was much higher in sleep deprivation group than that in control group. Moreover, the expression of LC3-Ⅱ(sleep deprivation group 1.681±0.186, control group 1.125±0.048, t=2.892, P=0.027 6) and Beclin-1(sleep deprivation group 1.144±0.048, control group 1.006±0.017, t=2.721, P=0.018 6) in mouse hippocampus and cortex was significantly elevated in sleep deprivation group than those in control group. Accordingly, the confocal microscopy observation also revealed an increased nuclear LC3-positive puncta in hippocampus and cortex of sleep deprived mice (hippocampus in sleep deprivation group 1.665±0.153, in control group 0.819±0.072, t=5.024, P=0.002 4; cortex in sleep deprivation group 1.925±0.175, in control group 1.195±0.111, t=3.521, P=0.012 5). In addition, TUNEL staining showed a much higher percentage of TUNEL-positive nuclei in these brain regions (hippocampus in sleep deprivation group 47.24±4.15, in control group 19.26±3.72, t=5.025, P=0.007 4; cortex in sleep deprivation group 42.25±1.25, in control group 27.50±3.23, t=4.262, P=0.005 3). \u0000 \u0000 \u0000Conclusions \u0000Chronic sleep deprivation can impair the learning and memory, increase the expression of LC3-Ⅱ and Beclin-1, elevate the formation of autophagosome, and promote apoptosis in mouse brain. These findings suggest that autophagy and apoptosis might be involved in the cognitive impairment induced by chronic sleep deprivation. \u0000 \u0000 \u0000Key words: \u0000Sleep deprivation; Neurons; Autophagy; Apoptosis; Memory disorders; Disease models, animal","PeriodicalId":10143,"journal":{"name":"中华神经科杂志","volume":"50 1","pages":"564-569"},"PeriodicalIF":0.0,"publicationDate":"2015-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84874827","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Autophagy and neurologic disease: from genetic to environment","authors":"W. Le","doi":"10.3760/CMA.J.ISSN.1006-7876.2015.07.001","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.1006-7876.2015.07.001","url":null,"abstract":"","PeriodicalId":10143,"journal":{"name":"中华神经科杂志","volume":"5 1","pages":"545-546"},"PeriodicalIF":0.0,"publicationDate":"2015-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76074717","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Wiskott-Aldrich syndrome complicated with demyelinating disease of the central nervous system:report of one case and literature review","authors":"Xiaoxia Yu, Baomin Li","doi":"10.3760/CMA.J.ISSN.1006-7876.2015.06.015","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.1006-7876.2015.06.015","url":null,"abstract":"Objective \u0000To discuss the correlation of Wiskott-Aldrich syndrome (WAS) with autoimmune disease of the central nervous system and its possible pathogenesis by reporting one case of the disease and reviewing related literature. \u0000 \u0000 \u0000Methods \u0000One case of WAS complicated with demyelinating disease of the central nervous system was reported. The patient's clinical symptoms, laboratory examinations (such as blood tests, immune function tests, etc) and imaging features were analyzed. The patient's blood DNA was extracted and performed gene testing. And related literature was reviewed. \u0000 \u0000 \u0000Results \u0000The patient showed typical clinical symptoms of WAS, including eczema, thrombocytopenia and immune deficiency, complicated with demyelinating disease of the central nervous system. The DNA testing showed C400G>C p. (ALa134Pro) mutation, which is a missense mutation. The 134th amino acid in protein was changed from alanine to proline. The patient also showed the symptoms of demyelinating disease of the central nervous system, which drew our attention. This was the first report on WAS complicated with demyelinating disease of the central nervous system, which was perhaps caused by a gene mutation. \u0000 \u0000 \u0000Conclusions \u0000WAS complicated with demyelinating disease of the central nervous system is possibly resulted from the gene mutation, which leads to the expression disorder of WAS protein. And then non-red hematopoietic cells lead to signal transduction and cytoskeleton recombination disorders in response to environment stimulus, which produces lymphocytes immigration, signal transduction and immune synaps formation disorders. \u0000 \u0000 \u0000Key words: \u0000Wiskott Aldrich syndrome; Demyelinating diseases; Central nervous system diseases; Autoimmune diseases","PeriodicalId":10143,"journal":{"name":"中华神经科杂志","volume":"54 1","pages":"514-520"},"PeriodicalIF":0.0,"publicationDate":"2015-06-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86706674","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Amide proton transfer MR imaging at 3. 0 T of the basal ganglia in Parkinson's disease","authors":"Rui Wang, Chunmei Li, Min Chen, Chen Zhang, Jinyuan Zhou, W. Su","doi":"10.3760/CMA.J.ISSN.1006-7876.2015.01.010","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.1006-7876.2015.01.010","url":null,"abstract":"Objective To explore the feasibility of amide proton transfer (APT) MR imaging for the detection of basal ganglia abnormalities in patients with Parkinson's disease (PD). Methods Twenty-seven patients with PD and twenty-three age-matched normal control subjects underwent cerebral APT and structural MR imaging. The magnetic resonance ratio asymmetry (MTRasym) values at 3.5 ppm of bilateral globus pallidus, putamen and caudate were measured on APT images. MTRasym (3.5 ppm) values of cerebral structures between PD patients and control subjects were compared with independent-samples t test. Paired-samples t test was used to compare the difference of MTRasym (3.5 ppm) between the side of onset and contralateral side in patients with PD. The difference of MTRasym (3.5 ppm) among normal controls, early-stage PD, and advanced-stage PD patients was assessed with one-way analysis of variance. Results Compared to normal controls, MTRasym (3.5 ppm) values of globus pallidus, putamen and caudate were significantly increased in PD patients ((0.89±0.12)% vs (0.57±0.16)%, (1.05±0.11)% vs (0.82±0.15)%, (1.15±0.13)% vs (0.78±0.19)%; t=3.311, 2.562, 3.277 respectively, all P values <0.05). Significant differences in MTRasym (3.5 ppm) values of these cerebral structures were observed among normal controls, early-stage PD and advanced-stage PD patients. And MTRasym (3.5 ppm) values in globus pallidus, putamen and caudate were significantly higher in early-stage PD patients than normal controls. In PD patients, even not statistically significant, MTRasym (3.5 ppm) values of sides of onset were slightly lower than contralateral sides. Conclusions APT MR imaging can sensitively identify the difference of MTRasym (3.5 ppm) in the basal ganglia between PD patients and normal controls. APT might be a useful tool to evaluate abnormal metabolite in basal ganglia of PD patients. Key words: Parkinson disease; Basal ganglia; Magnetic resonance imaging; Amide proton transfer","PeriodicalId":10143,"journal":{"name":"中华神经科杂志","volume":"88 1","pages":"40-43"},"PeriodicalIF":0.0,"publicationDate":"2015-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75381496","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Abnormal expression of connexin 36 plays a role in the pathogenesis of levodopa induced dyskinesia in rat model of Parkinson’ s disease","authors":"Mian Gao, Lei Huang, Hai-lei Wang, Lie-cheng Wang, Xianwen Chen","doi":"10.3760/CMA.J.ISSN.1006-7876.2014.06.005","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.1006-7876.2014.06.005","url":null,"abstract":"Objective \u0000To explore whether gap junction disturbances are involved in the pathogenesis of levodopa-induced dyskinesia (LID). \u0000 \u0000 \u0000Methods \u0000The hemi-parkinsonian (PD) rat was treated intraperitoneally with L-dopa methylester (20 mg/kg) and benserazid (10 mg/kg) for 21 days and abnormal involuntary movement was evaluated to establish LID rat model. The experimental animals were divided into three groups: LID group, PD group and normal control group，respectively．The behavior responses of intraperitoneal injection of different doses of carbenoxolon and intracerebroventricular injection of quinine were observed to estimate the effects of gap junctional blockade on the abnormal involuntary movement (AIM) in the rat model of LID. Double immunofluorescence labeling was used to analyze the expression of connexin 36 (Cx36) in enkephalin positive medium spiny neurons and parvalbumin (PV) positive interneurons in the striatum. Western blottings was used to observe the expression of Cx36 in the striatum and moter cortex. \u0000 \u0000 \u0000Results \u0000Behavioral characteristics indicated that high dose of carbenoxolone (>60 mg/kg) intraperitoneal injection and intracerebroventricular injection of quinine (0.5，1.0，2.0 μmol/L, >2.5 μmol/L) could decrease the AIM score of LID rats. Western blotting indicated that expression of Cx36 in lesioned striatum and motor cortex of LID rat model was 219.56%±18.12% and 226.03%±16.33%, respectively, which induced a significant upregulation in comparison with the normal control group (104.05%±3.82%, t=15.389, P<0.01; 105.27%±2.82%，t=8.074, P<0.01) and untreated PD group (119.31%±8.92%, t=13.356, P<0.01; 138.20%±17.88%, t=5.872, P<0.01). Double immunofluorescence labeling staining revealed that Cx36 expression was increased in Enk-positive striatum neurons in LID model (57.59%±5.36%) compared with that in normal control group (32.67%±4.22%) and PD group (37.24%±0.86%, F=78.060, P<0.01). The expression of Cx36 in PV-positive interneurons was also elevated in LID group (68.49%±11.60%) in comparison with normal control group (40.43%±2.30%) and PD group (31.92%±5.68%, F=39.567, P<0.01). \u0000 \u0000 \u0000Conclusions \u0000The Cx36 expression is generally increased in lesioned striatum and motor cortex of LID rat model. In the striatum, the up-regulation of Cx36 is specifically observed in Enk-positive striatum neurons and in PV-positive interneurons. The dyskinesia behavior of LID rats can be significantly reduced by treatment with gap junction blockade. All these results suggest that gap junction dysfunction may play an important role in the pathogenesis of LID. \u0000 \u0000 \u0000Key words: \u0000Parkinson disease; Dyskinesias; Connexins; Gap junctions; Disease models, animal","PeriodicalId":10143,"journal":{"name":"中华神经科杂志","volume":"7 1","pages":"375-381"},"PeriodicalIF":0.0,"publicationDate":"2014-06-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84690789","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Analysis of the clinical phenotypes of Charcot-Marie-Tooth disease type 2A2 patients with mitofusin2 mutation","authors":"X. Duan, W. Gu, C. Klein, Y. Hao, Guo-xiang Wang, Ren-bin Wang, D. Fan","doi":"10.3760/CMA.J.ISSN.1006-7876.2014.02.003","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.1006-7876.2014.02.003","url":null,"abstract":"Objective \u0000To investigate the characteristics of mitofusin2(MFN2) mutation and the clinical variability of Charcot-Marie-Tooth disease type 2(CMT2) patients. \u0000 \u0000 \u0000Methods \u0000MFN2 mutation analysis were performed in 8 autosomal dominant CMT2 families and 24 sporadic CMT2 cases by PCR and direct sequencing. The clinical features of the positive cases were precisely analyzed. \u0000 \u0000 \u0000Results \u0000Sequencing of the MFN2 gene revealed 4 different missense mutations，and detection rate was 4 of 32 (12.5%) in patients with CMT2. c.281G＞A (R94Q) and c.2240 T＞C（M747T）were detected in 2 autosomal dominant pedigrees, and intrafamilial clinical phenotype variability was present；c.1090 C＞T （R364W）and c.2198 T＞C （L733P）were detected in 2 sporadic cases，and the latter was a novel mutation which had not been reported. In addition to weakness and atrophy in the distal limbs，the former sporadic case was optic atrophy，and the latter case was hyperkeratosis of the skin. \u0000 \u0000 \u0000Conclusions \u0000Divergent MFN2 mutations are frequently found among axonal varieties of CMT2 in the Chinese population，and analysis of phenotypes in the CMT2A2 patients indicate the high clinical variability of this disease. \u0000 \u0000 \u0000Key words: \u0000Charcot-Marie-Tooth disease; Mitochondrial proteins; Mutation; Phenotype","PeriodicalId":10143,"journal":{"name":"中华神经科杂志","volume":"79 1","pages":"77-83"},"PeriodicalIF":0.0,"publicationDate":"2014-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75752744","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The relationship between frizzled 6 gene polymorphisms and neural tube defects in children of northern Han Chinese population","authors":"Chunquan Cai, O. Shi, Yongxiang Shen, Xiao Ma","doi":"10.3760/CMA.J.ISSN.1006-7876.2013.10.012","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.1006-7876.2013.10.012","url":null,"abstract":"Objective \u0000To study the association of single nucleotide polymorphisms (SNPs) of the frizzled 6 (FZD6) gene with neural tube defects (NTDs) in a northern Han Chinese population. \u0000 \u0000 \u0000Methods \u0000Three nonsynonymous SNPs in the FZD6 gene (rs827528，rs3808553，rs12549394) were examined.The SNPs were genotyped by polymerase chain reaction (PCR) and sequencing in 135 NTD patients and matched normal controls.The allele，genotype and haplotype frequencies were calculated and analyzed to examine the association between FZD6 SNPs and NTDs. \u0000 \u0000 \u0000Results \u0000Both T allele and TT genotype frequencies of the rs3808553 polymorphism in the NTDs group were significantly higher than those in the controls，and children with T allele and TT genotype were associated with increased risk of NTDs (OR=1.575，95% CI 1.112-2.230，P=0.010 and OR=2.811，95% CI 1.325-5.967，P=0.023 respectively).There were no significant differences among different genotypes or alleles in both rs827528 and rs12549394.Haplotypes A-G-C and A-T-C were found associated with NTDs in the case-control study (OR=0.560，95% CI 0.378-0.830，P=0.004 and OR=1.670，95% CI 1.126-2.475，P=0.011 respectively). \u0000 \u0000 \u0000Conclusions \u0000The rs3808553 polymorphism of FZD6 s obviously associated with NTDs in children of northern Han Chinese population.The TT genotype may increase the risk for NTDs.The rs827528 and rs12549394 polymorphisms of FZD6 may have no association with NTDs. \u0000 \u0000 \u0000Key words: \u0000Neural tube defects; Frizzled receptors; Polymorphisms，single nucleotide","PeriodicalId":10143,"journal":{"name":"中华神经科杂志","volume":"360 1","pages":"697-701"},"PeriodicalIF":0.0,"publicationDate":"2013-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82634495","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical and radiological features in patients with DYT6 dystonia","authors":"Lin Wang, X. Wan, F. Cheng, Ying-mai Yang, Ling-yan Ma, L. Cui","doi":"10.3760/CMA.J.ISSN.1006-7876.2013.03.002","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.1006-7876.2013.03.002","url":null,"abstract":"Objective \u0000To summarize the clinical and radiological features of DYT6 dystonia with mutations based on the data of our patient cohort as well as the report by others. \u0000 \u0000 \u0000Methods \u0000Clinical data of the 11 patients with DYT6 dystonia in Peking Union Medical College Hospital from June 2009 to May 2012 were retrospectively reviewed and analyzed.Clinical data included gender，onset age，initiative symptom of onset，the sites of involvemet，family history，etc.All patients were examined for brain MRI scan，6 patients were examined for DTI. \u0000 \u0000 \u0000Results \u0000Of the eleven geneconfirmed DYT6 dystonia patients，7 were male and 4 were female，with an onset-age ranged from 5 years to 36 years，the mean age of onset was 19.4 years.Eight patients had a family history.There were 10 patients with early onset dystonia and only 1 patient with late onset dystonia.The most common site of onset was the neck (7/11)，and the next was the right arm，1-5 body areas were affected at the time of neurological assessment，the average amount was 2.8，and the most frequently affected anatomical site was the neck (10/11)，next came lower face，jaw and tongue.Among all the patients，6 patients presented with segmental dystonia，4 patients presented with focal dystonia，only 1 patient presented with generalized dystonia.All the patients with thanatos-associated protein domain-containing apoptosis-associated protein (THAP) domain affected had a family history，but the patients with the same mutant gene varied with clinical manifestation.Only 1 patients with non-THAP domain affected had a family history，but in most families，there were adult asymptomatic mutant gene carriers.Mutations within the THAP domain were associated with an earlier age of onset than non-THAP domain (17.3 and 21.8 years old).Routine MRI of all patients were normal and DTI of 6 patients showed that fractional anisotropy values in the bilateral sensorimotor area in DYT6 dystonia were reduced.A detailed description of a patient with TOR1A and THAP1 gene mutations was given. \u0000 \u0000 \u0000Conclusions \u0000Early onset dystonia is the main manifestation in patients with DYT6 dystonia in China.The most common site of onset is the neck，and the next is the right arm.The most frequently affected anatomical site is the neck，next come lower face，jaw and tongue.Laryngeal dystonia is absent.The patients with same mutant gene show high heterogeneity in the clinical manifestations，mutations within the THAP domain of THAP1 tend to manifest at an earlier age and higher penetration than mutations localized to non-THAP domain.Reduction of fractional anisotropy values indicates that the axonal integrity and coherence in the region of sensorimotor area is damaged in DYT6 dystonia. \u0000 \u0000 \u0000Key words: \u0000Dystonia; DNA-binding proteins; Nuclear proteins; Apoptosis regulatory proteins; Mutation; Magnetic resonance imaging","PeriodicalId":10143,"journal":{"name":"中华神经科杂志","volume":"69 1","pages":"148-151"},"PeriodicalIF":0.0,"publicationDate":"2013-03-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90428763","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association between Clock T3111C and T257G gene polymorphisms and sleep epilepsy in a Hunan Han population","authors":"Jie Liu, Guo-liang Li, Ya-yuan Luo, Chen Li, Hanwen Li","doi":"10.3760/CMA.J.ISSN.1006-7876.2012.08.007","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.1006-7876.2012.08.007","url":null,"abstract":"Objective \u0000To investigate the association between the Clock T3111C and T257G gene polymorphisms and sleep epilepsy patients in Han population of Hunan province. \u0000 \u0000 \u0000Methods \u0000Three hundred and eleven subjects with epilepsy(sleep epilepsy group(n=112), aperiodic group(n=95), awakening epilepsy group(n=104)) and 300 sex- and age-matched healthy controls were enrolled in the study. Genomic DNAs were extracted from peripheral blood leucocytes by phenol-chloroform methods. The Clock T3111C and T257G polymorphisms were detected by polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP). \u0000 \u0000 \u0000Results \u0000(1) Two genotypes(TT and TC) were detected in Clock T3111C. The frequency of Clock site T3111C genotypes in all of the people was 86.09%(TT，526/611), 13.91%(TC,85/611), 0(CC), T allele gene frequency was 93.04%(1134/1222) and C allele gene frequency was 6.96%(85/1222). There was no significant difference in genotype and gene distribution of Clock gene T3111C polymorphism between sleep epilepsy group, aperiodic group, awakening epilepsy group and control group.(2)Two genotypes(TT and TG) were detected in Clock T257G. The frequency of Clock site T257G genotypes in all of the people was 85.92%(TT,525/611), 14.08%(TG,86/611), 0(GG), T allele gene frequency was 92.96% (1136/1222) and G allele gene frequency was 7.04%(86/1222). There was no significant difference in genotype and gene distribution of Clock gene T257G polymorphisms between sleep epilepsy group, aperiodic epilepsy group, awakening epilepsy group and control group.(3)There was an almost complete correspondence(complete linkage disequilibrium) of bases between the positions 257 and 3111. \u0000 \u0000 \u0000Conclusion \u0000Clock gene T3111C and T257G polymorphisms are not associated with sleep epilepsy in Han population of Hunan province. \u0000 \u0000 \u0000Key words: \u0000Circadian rhythm; CLOCK proteins; Epilepsy; Polymorphism;  single nucleotide","PeriodicalId":10143,"journal":{"name":"中华神经科杂志","volume":"30 1","pages":"575-580"},"PeriodicalIF":0.0,"publicationDate":"2012-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82878881","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Phenotype in 6 patients with mitochondrial DNA G13513A mutation","authors":"Zhaoxia Wang, Dan-hua Zhao, X. Qi, Man-fu Han, Liqun Feng, Yun Yuan","doi":"10.3760/CMA.J.ISSN.1006-7876.2011.05.007","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.1006-7876.2011.05.007","url":null,"abstract":"：Objective To report 6Chinese patients with mitochondrial encephalomyopathy caused by mitochondrialDNA(mtDNA)G13513A mutation and discuss the mitochondrial phenotype associated with thismutation based on the data of our patient series as well as the reports by others.MethodsDirect sequencing of polymerase chain reaction(PCR)products or PCR-RFLP analysis Wasperformed to screen mtDNA G13513A mutation in 35 cases with mitoehondrialencephalomyopathy.who carried no mtDNA common mutations(1arge 8eale deletion,A3243G,T3271C,A8344G,or T8993G/C).The clinical features,MRI changes were retrospectively collected andanalyzed.Published studies of all patients with mtDNA G13513A mutation were alsoreviewed.Results Six patients were identified carrying mtDNA G13513A mutation.All patientspresented stroke-like episodes with hemianopsia.hemiparesis or hemiparesthesia.Three adultpatients presented clinical and radiological features of adult-onset mitochondrialmyopathy,encephalopathy,lactic acidosis,and stroke-like episodes(MELAS),includingstroke-like episodes,epilepsy,headache,short stature,sensorineural deafness,multifocallesions on parietal,occipital and temporal lobes on cranial MRI scans.Three iuvenile.onsetpatients presented the clinical and brain MRI features of MELAS-Leigh syndrome(LS)overlapsyndrome.In addition to the stroke-like episodes,they also showed brain stem lesions withdysarthria,ataxia,and ophthalmopJegia. Brain MRI revealed asymmetrical lesions in thecortex of the oecipital and temporal lobes,as well as symmetrical lesions in the bilateralbasal ganglia and brainstem.Muslce biopsy showed ragged redfibem in 5 patients.Theinfant-onset LS or Leigh-like syndrome with mtDNA G135 13A was described in the Englishliterature.Conclusions mtDNA G13513A mutation is a common pathogenic mutmion formitochondrial encephalomyopathy,which can result in Leigh syndrome,MELAS-LS overlapsyndrome and adult MELAS.The onset of various phenotypes is relatively age-dependent.","PeriodicalId":10143,"journal":{"name":"中华神经科杂志","volume":"26 1","pages":"322-326"},"PeriodicalIF":0.0,"publicationDate":"2011-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74676763","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}