二例先天性肌强直的CLCNl基因突变研究

目的 探讨2例先天性肌强直患者的氯离子通道蛋白-1(chloride channcl 2,CLCN1)基因突变情况和临床特点.方法 收集福建地区1个先天性肌强直家系的先证者和1例散发性先天性肌强直患者的临床资料并进行综合分析.用PCR扩增患者CLCN1基因的全部外显子,通过直接测序检测突变的情况.结果 家系1先证者的CLCN1基因第8外显子存在c.1024 G>A的杂合性错义突变,散发性患者的CLCN1基因第11外显子发现了c.1292 C>T的杂合性错义突变.结论 先天性肌强直症临床表现缺乏特异性,CLCN1基因突变检测是确诊该病的有效方法.     

全面性发作癫(癎)患者记忆功能与海马质子磁共振波谱改变的相关性分析

Objective To investigate the features of the memory function disturbance in patients of generalized seizures and the correlation between the memory function and proton magnetic resonance spectroscopy(1H-MRS).Methods The clinical memory scale of 45 general seizures and 20 normal age and sex-matched controls wss measured and a1 H-MRs was performed in the bilateral hippoeampal.The levels of NAA.Cho.Cr and the ratios of NAA/Cr+Cho were compared between these two groups.Meanwhile,tHe correlation coefficients was calculated and the results of clinical memory scale scoreB and the level of NAA,Cho.Cr and the ratios of NAA/Cr+Cho in groups were compared.Results As compared with the controls.the scores of pointing memory(17.19±5.86),associational learning(20.00±6.77),image free memory(18.44±6.62),association memory of portrait(13.19±6.62)and memory quotient (MQ,79.07±20.20)excepts insignificant figure recognition wcrc significandy decreased in patients of seizures(t=4.794-10.224,all P<0.01);The scores of scale and MQ of both the group of patients who wok antiepileptic drugs(AEDs)and the group of patients whose frequency exceeded 3 per month were significantly lower than the group who didn't take AEDs and the group whose frequency was lower than 3 per month(t=3.267-6.537,all P<0.01).The volumes of hippocampal formations(2.45 ±0.25 on left and 2.56 ±0.31 on right),the level of NAA(12.93 ±1.73 on left and 11.88 ±1.69 on right),Cho(15.02 ±0.86 on left and 14.94 ±0.96 on right),Cr(11.86 ±0.71 on left and 10.71 ±0.42 on right)and the ratios of NAA/Cr+Cho(0.48 ±0.08 on left and 0.39 ±0.07 on riht)in the group of pailents of generalized seizures were significantly difference than those in the controls(t=4.103-5.768,all P<0.01).Patients with seizures showed significant correlation between tlle scores of all items.MQ in clinical memory scale and NAA,NAA/Cr+Cho ratio(r=0.489-0.727,all P<0.01),and inverse correlation between the scores and MQ and Cho of in the bilateral hippocampal(r=-0.604-0.484,all P<0.01).However,there was no correlation between the scores and MQ and Cr of in the bilateral hippocampal.Condusions The patients of the general seizures do have the problem of the disturbance of short-term memory including acoustic memory and some visual memory.Both the high frequency of seizure and AEDs could affect the short-term memory function.The correlation between the scores of all the items and MQ in clinical memory scale proved that lack of nerve cell and hyperplasia of gliocyte was one of the reasons of the short-term memory disorder in epileptic.     

全面性发作癫(癎)患者记忆功能与海马质子磁共振波谱改变的相关性分析

目的 探讨原发性癫(癎)全面性发作患者记忆功能损害的特征以及磁共振波谱(magnetic resonance spectroscopy,MRS)检查与记忆功能的关系.方法 对45例癫(癎)全面性发作的患者和20例健康对照组进行临床记忆量表的测量,双侧海马行1H-MRS检测及体积测量,比较2组间记忆量表的各项量表分、记忆商和1H-MRS的各项指标,并对记忆量表的结果与海马1H-MRS结果进行相关分析.结果 癫(癎)组包括服药组(指向记忆15.68±4.79,联想学习18.70±5.84,图像自由回忆13.19±6.22,人像特点回忆12.02±4.31)与未服药组(指向记忆17.19±5.86,联想学习20.00±6.77,图像自由回忆18.44±6.62,人像特点回忆13.19±6.62)以及不同发作频率组的多数项量表分及记忆商(服药组74.64 ±18.52,未服药组79.07±20.20,≥3次/月组78.10±21.22,<3次/月组73.81±17.72)显著低于对照组(t=4.794-10.224,P<0.01);且癫(癎)服药组和发作频率≥3次/月组的各项量表分及记忆商显著低于服药组和发作频率<3次/月组(t=3.267～6.537,P<0.01).癫(癎)组海马体积(左侧2.45±0.25,右侧2.56±0.31)、N-乙酰天门冬氨酸(NAA,左侧12.93±1.73,右侧11.88±1.69)及NAA/胆碱(Cho)+肌酸(Cr,左侧0.48±0.08,右侧0.39±0.07)显著低于对照组,Cho(左侧15.02±0.86,右侧14.94±0.96)、Cr(左侧11.86±0.71,右侧10.71±0.42)显著高于对照组(t=4.103～5.768,P<0.01);癫(癎)组的各项量表分及记忆商与左右侧NAA浓度、NAA/Cho+Cr均呈明显正相关(r=O.489～0.727,P相似文献   

血管性痴呆患者关联性负变电位的特征

目的探讨血管性痴呆(VaD)患者的关联性负变电位特征。方法测定30例VaD患者、30例正常对照者的关联性负变(CNV)和事件相关电位P300,采用MMSE评定两组的认知功能。结果与正常对照组相比,VaD组CNV的M1和M2潜伏期延迟,M1波幅和平均波幅下降,PINV出现率高(P0.01)。结论 CNV的M1和M2潜伏期及M1波幅、PINV出现率在一定程度上反映VaD患者的认知功能损害,可以作为评价和研究VaD认知功能的电生理客观指标。     

全面性发作癫(癎)患者记忆功能与海马质子磁共振波谱改变的相关性分析

Objective To investigate the features of the memory function disturbance in patients of generalized seizures and the correlation between the memory function and proton magnetic resonance spectroscopy(1H-MRS).Methods The clinical memory scale of 45 general seizures and 20 normal age and sex-matched controls wss measured and a1 H-MRs was performed in the bilateral hippoeampal.The levels of NAA.Cho.Cr and the ratios of NAA/Cr+Cho were compared between these two groups.Meanwhile,tHe correlation coefficients was calculated and the results of clinical memory scale scoreB and the level of NAA,Cho.Cr and the ratios of NAA/Cr+Cho in groups were compared.Results As compared with the controls.the scores of pointing memory(17.19±5.86),associational learning(20.00±6.77),image free memory(18.44±6.62),association memory of portrait(13.19±6.62)and memory quotient (MQ,79.07±20.20)excepts insignificant figure recognition wcrc significandy decreased in patients of seizures(t=4.794-10.224,all P<0.01);The scores of scale and MQ of both the group of patients who wok antiepileptic drugs(AEDs)and the group of patients whose frequency exceeded 3 per month were significantly lower than the group who didn't take AEDs and the group whose frequency was lower than 3 per month(t=3.267-6.537,all P<0.01).The volumes of hippocampal formations(2.45 ±0.25 on left and 2.56 ±0.31 on right),the level of NAA(12.93 ±1.73 on left and 11.88 ±1.69 on right),Cho(15.02 ±0.86 on left and 14.94 ±0.96 on right),Cr(11.86 ±0.71 on left and 10.71 ±0.42 on right)and the ratios of NAA/Cr+Cho(0.48 ±0.08 on left and 0.39 ±0.07 on riht)in the group of pailents of generalized seizures were significantly difference than those in the controls(t=4.103-5.768,all P<0.01).Patients with seizures showed significant correlation between tlle scores of all items.MQ in clinical memory scale and NAA,NAA/Cr+Cho ratio(r=0.489-0.727,all P<0.01),and inverse correlation between the scores and MQ and Cho of in the bilateral hippocampal(r=-0.604-0.484,all P<0.01).However,there was no correlation between the scores and MQ and Cr of in the bilateral hippocampal.Condusions The patients of the general seizures do have the problem of the disturbance of short-term memory including acoustic memory and some visual memory.Both the high frequency of seizure and AEDs could affect the short-term memory function.The correlation between the scores of all the items and MQ in clinical memory scale proved that lack of nerve cell and hyperplasia of gliocyte was one of the reasons of the short-term memory disorder in epileptic.     

全面性发作癫(癎)患者记忆功能与海马质子磁共振波谱改变的相关性分析

Objective To investigate the features of the memory function disturbance in patients of generalized seizures and the correlation between the memory function and proton magnetic resonance spectroscopy(1H-MRS).Methods The clinical memory scale of 45 general seizures and 20 normal age and sex-matched controls wss measured and a1 H-MRs was performed in the bilateral hippoeampal.The levels of NAA.Cho.Cr and the ratios of NAA/Cr+Cho were compared between these two groups.Meanwhile,tHe correlation coefficients was calculated and the results of clinical memory scale scoreB and the level of NAA,Cho.Cr and the ratios of NAA/Cr+Cho in groups were compared.Results As compared with the controls.the scores of pointing memory(17.19±5.86),associational learning(20.00±6.77),image free memory(18.44±6.62),association memory of portrait(13.19±6.62)and memory quotient (MQ,79.07±20.20)excepts insignificant figure recognition wcrc significandy decreased in patients of seizures(t=4.794-10.224,all P<0.01);The scores of scale and MQ of both the group of patients who wok antiepileptic drugs(AEDs)and the group of patients whose frequency exceeded 3 per month were significantly lower than the group who didn't take AEDs and the group whose frequency was lower than 3 per month(t=3.267-6.537,all P<0.01).The volumes of hippocampal formations(2.45 ±0.25 on left and 2.56 ±0.31 on right),the level of NAA(12.93 ±1.73 on left and 11.88 ±1.69 on right),Cho(15.02 ±0.86 on left and 14.94 ±0.96 on right),Cr(11.86 ±0.71 on left and 10.71 ±0.42 on right)and the ratios of NAA/Cr+Cho(0.48 ±0.08 on left and 0.39 ±0.07 on riht)in the group of pailents of generalized seizures were significantly difference than those in the controls(t=4.103-5.768,all P<0.01).Patients with seizures showed significant correlation between tlle scores of all items.MQ in clinical memory scale and NAA,NAA/Cr+Cho ratio(r=0.489-0.727,all P<0.01),and inverse correlation between the scores and MQ and Cho of in the bilateral hippocampal(r=-0.604-0.484,all P<0.01).However,there was no correlation between the scores and MQ and Cr of in the bilateral hippocampal.Condusions The patients of the general seizures do have the problem of the disturbance of short-term memory including acoustic memory and some visual memory.Both the high frequency of seizure and AEDs could affect the short-term memory function.The correlation between the scores of all the items and MQ in clinical memory scale proved that lack of nerve cell and hyperplasia of gliocyte was one of the reasons of the short-term memory disorder in epileptic.     

全面性发作癫(癎)患者记忆功能与海马质子磁共振波谱改变的相关性分析

Objective To investigate the features of the memory function disturbance in patients of generalized seizures and the correlation between the memory function and proton magnetic resonance spectroscopy(1H-MRS).Methods The clinical memory scale of 45 general seizures and 20 normal age and sex-matched controls wss measured and a1 H-MRs was performed in the bilateral hippoeampal.The levels of NAA.Cho.Cr and the ratios of NAA/Cr+Cho were compared between these two groups.Meanwhile,tHe correlation coefficients was calculated and the results of clinical memory scale scoreB and the level of NAA,Cho.Cr and the ratios of NAA/Cr+Cho in groups were compared.Results As compared with the controls.the scores of pointing memory(17.19±5.86),associational learning(20.00±6.77),image free memory(18.44±6.62),association memory of portrait(13.19±6.62)and memory quotient (MQ,79.07±20.20)excepts insignificant figure recognition wcrc significandy decreased in patients of seizures(t=4.794-10.224,all P<0.01);The scores of scale and MQ of both the group of patients who wok antiepileptic drugs(AEDs)and the group of patients whose frequency exceeded 3 per month were significantly lower than the group who didn't take AEDs and the group whose frequency was lower than 3 per month(t=3.267-6.537,all P<0.01).The volumes of hippocampal formations(2.45 ±0.25 on left and 2.56 ±0.31 on right),the level of NAA(12.93 ±1.73 on left and 11.88 ±1.69 on right),Cho(15.02 ±0.86 on left and 14.94 ±0.96 on right),Cr(11.86 ±0.71 on left and 10.71 ±0.42 on right)and the ratios of NAA/Cr+Cho(0.48 ±0.08 on left and 0.39 ±0.07 on riht)in the group of pailents of generalized seizures were significantly difference than those in the controls(t=4.103-5.768,all P<0.01).Patients with seizures showed significant correlation between tlle scores of all items.MQ in clinical memory scale and NAA,NAA/Cr+Cho ratio(r=0.489-0.727,all P<0.01),and inverse correlation between the scores and MQ and Cho of in the bilateral hippocampal(r=-0.604-0.484,all P<0.01).However,there was no correlation between the scores and MQ and Cr of in the bilateral hippocampal.Condusions The patients of the general seizures do have the problem of the disturbance of short-term memory including acoustic memory and some visual memory.Both the high frequency of seizure and AEDs could affect the short-term memory function.The correlation between the scores of all the items and MQ in clinical memory scale proved that lack of nerve cell and hyperplasia of gliocyte was one of the reasons of the short-term memory disorder in epileptic.     

全面性发作癫(癎)患者记忆功能与海马质子磁共振波谱改变的相关性分析

Objective To investigate the features of the memory function disturbance in patients of generalized seizures and the correlation between the memory function and proton magnetic resonance spectroscopy(1H-MRS).Methods The clinical memory scale of 45 general seizures and 20 normal age and sex-matched controls wss measured and a1 H-MRs was performed in the bilateral hippoeampal.The levels of NAA.Cho.Cr and the ratios of NAA/Cr+Cho were compared between these two groups.Meanwhile,tHe correlation coefficients was calculated and the results of clinical memory scale scoreB and the level of NAA,Cho.Cr and the ratios of NAA/Cr+Cho in groups were compared.Results As compared with the controls.the scores of pointing memory(17.19±5.86),associational learning(20.00±6.77),image free memory(18.44±6.62),association memory of portrait(13.19±6.62)and memory quotient (MQ,79.07±20.20)excepts insignificant figure recognition wcrc significandy decreased in patients of seizures(t=4.794-10.224,all P<0.01);The scores of scale and MQ of both the group of patients who wok antiepileptic drugs(AEDs)and the group of patients whose frequency exceeded 3 per month were significantly lower than the group who didn't take AEDs and the group whose frequency was lower than 3 per month(t=3.267-6.537,all P<0.01).The volumes of hippocampal formations(2.45 ±0.25 on left and 2.56 ±0.31 on right),the level of NAA(12.93 ±1.73 on left and 11.88 ±1.69 on right),Cho(15.02 ±0.86 on left and 14.94 ±0.96 on right),Cr(11.86 ±0.71 on left and 10.71 ±0.42 on right)and the ratios of NAA/Cr+Cho(0.48 ±0.08 on left and 0.39 ±0.07 on riht)in the group of pailents of generalized seizures were significantly difference than those in the controls(t=4.103-5.768,all P<0.01).Patients with seizures showed significant correlation between tlle scores of all items.MQ in clinical memory scale and NAA,NAA/Cr+Cho ratio(r=0.489-0.727,all P<0.01),and inverse correlation between the scores and MQ and Cho of in the bilateral hippocampal(r=-0.604-0.484,all P<0.01).However,there was no correlation between the scores and MQ and Cr of in the bilateral hippocampal.Condusions The patients of the general seizures do have the problem of the disturbance of short-term memory including acoustic memory and some visual memory.Both the high frequency of seizure and AEDs could affect the short-term memory function.The correlation between the scores of all the items and MQ in clinical memory scale proved that lack of nerve cell and hyperplasia of gliocyte was one of the reasons of the short-term memory disorder in epileptic.     

全面性发作癫(癎)患者记忆功能与海马质子磁共振波谱改变的相关性分析

Objective To investigate the features of the memory function disturbance in patients of generalized seizures and the correlation between the memory function and proton magnetic resonance spectroscopy(1H-MRS).Methods The clinical memory scale of 45 general seizures and 20 normal age and sex-matched controls wss measured and a1 H-MRs was performed in the bilateral hippoeampal.The levels of NAA.Cho.Cr and the ratios of NAA/Cr+Cho were compared between these two groups.Meanwhile,tHe correlation coefficients was calculated and the results of clinical memory scale scoreB and the level of NAA,Cho.Cr and the ratios of NAA/Cr+Cho in groups were compared.Results As compared with the controls.the scores of pointing memory(17.19±5.86),associational learning(20.00±6.77),image free memory(18.44±6.62),association memory of portrait(13.19±6.62)and memory quotient (MQ,79.07±20.20)excepts insignificant figure recognition wcrc significandy decreased in patients of seizures(t=4.794-10.224,all P<0.01);The scores of scale and MQ of both the group of patients who wok antiepileptic drugs(AEDs)and the group of patients whose frequency exceeded 3 per month were significantly lower than the group who didn't take AEDs and the group whose frequency was lower than 3 per month(t=3.267-6.537,all P<0.01).The volumes of hippocampal formations(2.45 ±0.25 on left and 2.56 ±0.31 on right),the level of NAA(12.93 ±1.73 on left and 11.88 ±1.69 on right),Cho(15.02 ±0.86 on left and 14.94 ±0.96 on right),Cr(11.86 ±0.71 on left and 10.71 ±0.42 on right)and the ratios of NAA/Cr+Cho(0.48 ±0.08 on left and 0.39 ±0.07 on riht)in the group of pailents of generalized seizures were significantly difference than those in the controls(t=4.103-5.768,all P<0.01).Patients with seizures showed significant correlation between tlle scores of all items.MQ in clinical memory scale and NAA,NAA/Cr+Cho ratio(r=0.489-0.727,all P<0.01),and inverse correlation between the scores and MQ and Cho of in the bilateral hippocampal(r=-0.604-0.484,all P<0.01).However,there was no correlation between the scores and MQ and Cr of in the bilateral hippocampal.Condusions The patients of the general seizures do have the problem of the disturbance of short-term memory including acoustic memory and some visual memory.Both the high frequency of seizure and AEDs could affect the short-term memory function.The correlation between the scores of all the items and MQ in clinical memory scale proved that lack of nerve cell and hyperplasia of gliocyte was one of the reasons of the short-term memory disorder in epileptic.