1.夜发性额叶癫痫散发病例遗传学病因筛查 2.fMRI在药物难治性颞叶癫痫患者术前语言功能评估中的应用研究
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摘要
研究背景及目的
目前世界范围内癫痫的患病率在0.5-1.5%,我国癫痫病人约700-800万左右,大约40%癫痫为特发性,其中遗传因素在特发性癫痫病因中起到重要作用,明确遗传学病因,有利于明确诊断及针对性治疗,促进癫痫控制。常染色体显性遗传夜发性额叶癫痫(autosomal dominant nocturnal frontal lobe epilepsy,ADNFLE)可由烟碱乙酰胆碱受体(neuronal nicotinic acetylcholine receptor,nAChR)α4、β2和α2亚单位编码基因(CHRNA4、CHRNB2、CHRNA2)跨膜区突变所致。ADNFLE与临床中更常见的散发病例夜发性额叶癫痫(nocturnal frontal lobeepilepsy,NFLE)在临床相难于鉴别,并且有报道在散发NFLE患者中发现ADNFLE致病突变CHRNA4-C755T,且为新发突变,并在家系中传递,使NFLE散发病例发展为受累病例更多的ADNFLE家系。结合我国ADNFLE家系罕见、NFLE散发病例多见的实际情况,我们在中国人群NFLE散发病例中筛查nAChR编码基因CHRNA4、CHRNB2和CHRNA2中与ADNFLE相关突变外显子,探讨nAChR相关基因在NFLE发病机制中的作用。
方法
33名中国NFLE患者,经临床资料、家族史及辅助检查VEEG、MRI等综合诊断,男19名,女14名,平均年龄18.76±7.59岁。外周血白细胞酚氯仿法提取基因组DNA,依据CHRNA4、CHRNB2基因序列及其中ADNFLE相关突变位点,应用软件Primer5.0设计聚合酶链反应(PCR)引物及参考文献选取CHRNA2相关引物,PCR分别扩增CHRNA4、CHRNB2、CHRNA2基因中包含跨膜区1-3和与ADNFLE相关已知突变序列,经双向测序筛查突变,通过测序图阅读、文献检索,确认已知突变、单核苷酸多态性与新型变异。对可疑NFLE致病相关新型变异,应用限制性内切酶(Cac8Ⅰ、MscⅠ)酶切及1%琼脂糖凝胶电泳或12%聚丙烯酰胺凝胶电泳鉴定,并以同样方法在100名中国人群健康对照组中筛查新型变异,比较新型变异在病例组及健康对照组的频率,初步确认突变。经突变性质分析、家系传递分析及氨基酸进化保守度分析等遗传学方法比较,探讨突变在NFLE中的作用。
结果
中国人群NFLE散发病例组在CHRNA4筛查中,于一名发病较早、抗癫痫药物效果较差患者中,发现一种新型杂合错义突变G923A,导致位于nAChR-α4亚单位第三、四跨膜区间第二个细胞内环、接近第三跨膜区处发生R308H突变,即精氨酸替换为组氨酸,在100名中国人群健康对照筛查中,未见这一突变;还发现一种可能的新型多态A1054 G,在200条对照染色体中发现1个这种变异。在CHRNA4筛查中,发现一种已知多态T1125G。NFLE散发病例组在CHRNB2和CHRNA2筛查中,未见突变。
结论
1.中国人群散发NFLE病例中存在CHRNA4-E5错义突变R308H,可能为NFLE新型遗传学病因。
2.CHRNA4-E5非跨膜区编码基因突变可能与NFLE/ADNFLE发病相关。
3.CHRNA4为NFLE/ADNFLE相关突变热点,CHRNA2、CHRNB2突变为两者较少见病因。
研究背景及目的
目前世界范围内癫痫的患病率在0.5-1.5%,我国癫痫病人约700-800万左右,其中30-40%为药物难治性,以切除癫痫源为目的的外科手术是治疗难治性癫痫的有效手段,因而对与癫痫源存在密切联系的脑功能区进行精确定位,以较少手术损伤,已成为癫痫术前评估的必要程序和研究热点。大量研究表明,因准确、可靠、无创的优势,功能磁共振成像(functional magnetic resonance imaging,fMRI)已成为癫痫患者术前语言评估中的一种常规应用技术。还有研究表明,应用fMRI显像中感兴趣区激活情况计算的半球侧化指数(laterality index,LI)及语义任务组块设计对语言优势半球(hemispheric language dominance,HLD)的评价准确性更高、局部LI中额部LI较颞顶区LI更显示与Wada试验一致,及LI受患者癫痫发病年龄、癫痫病程等因素影响。同时,也有研究显示在语义任务fMRI中英语等西语系较汉语更易显示偏侧优势。近来,有研究表明癫痫患者术前fMRI评估语言中LI对左前颞叶切除术(left anterior temporal lobectomy,L-ATL)术后患者命名功能下降有预测作用,而颞顶区LI显示更强的预测效力。由于,采用汉语任务、在中国人群颞叶癫痫患者中应用flVIRI的研究还较为缺乏。因此,本研究中,我们应用fMRI技术评估中国药物难治性颞叶癫痫(temporal lobe epilepsy,TLE)患者术前HLD,采用汉语语义任务及额下回、颞顶区总LI为标准判定HLD,并应用语言量表于患者术前术后评估语言功能,探讨fMRI技术在应用汉语语义任务下,于中国颞叶癫痫患者HLD评估中的成像特点、术后语言功能预测作用及LI相关影响因素分析。
方法
在北京协和医院癫痫中心及神经外科就诊且手术的10名药物难治性非病灶性颞叶癫痫患者中进行了一个前瞻性队列研究。通过病史、临床表现、术前综合评估确诊入组病例。收集患者临床资料。患者于术前测量患者语言功能量表(ABC)、fMRI评估语言优势半球。术后6-9个月随访及测量语言功能量表(ABC)。在fMRI评估中,应用汉语语义任务,以左额下回、左颞顶区及对应右侧脑区为感兴趣区,计算LI-总、额下回LI及颞顶区LI,通过Cohen'skappa检验,比较各局部LI与LI-总一致性。通过X~2检验、Spearman's参数计算分析LI与年龄、发病年龄、病程、癫痫源侧等相关性。通过患者术前及术后语言功能量表(ABC)评分变化,分析LI对前颞切除术术后命名功能改变的预测作用。结果
我们采用汉语语义任务fMRI评估中国药物难治性颞叶癫痫患者术前语言功能,结果表明LI-颞顶(kappa=1)较LI-额(kappa=0.375)更准确地指示HLD;同时,本研究显示癫痫发病年龄(r=0.778,p＜0.01)、患病时间(r=-0.744,p＜0.01)与癫痫患者的LI显著相关,及LI-总对L-ATL组患者术后语言命名功能下降预测与命名定性判定间一致性良好(kappa=0.5)、LI-总与R-ATL组患者术后命名改变显著呈负相关(r=-0.924,P＜0.01)。
结论
我们的研究首次表明在应用fMRI汉语语义任务评估颞叶癫痫患者术前HLD中,LI-颞顶而不是LI-额与LI-总指示的HLD更相一致;癫痫发病年龄、癫痫病程对形成非典型HLD起作用;fMRI-LI对前颞叶切除术术后命名功能改变具有预测作用。
Background and Objectives
The prevalence of epilepsy is estimated at 0.5-1.5%in the world and there are at least 7-8 million epileptics in china.Forty percent of them are idiopathic epilepsy, in which the genetic etiology play an important role to the pathogenesis.It is very important to find out the genetic etiology to diagnose and treat the epilepsy.ADNFLE is sometimes associated with mutations in the transmemberane domain(TM) 1-3 in the genes encoding theα4(CHRNA4),β2(CHRNB2)andα2(CHRNA2) subunits of the neuronal nicotinic acetylcholine receptors(nAChRs).Clinically,sporadic cases of nocturnal frontal lobe epilepsy(NFLE) with no demonstrable structural brain lesion are more common than that of ADNFLE and there are no phenotypic difference between sporadic and ADNFLE.In a study,a de novo mutation(CHRNA4-C755T) which had been reported in ADNFLE was found in a lebanese women with sporadic NFLE and was also found in a son with NFLE of the women.Because there is few patient with ADNFLE and a few patients with NFLE in china,we performed a clinical and molecular genetic study in 33 chinese patients of sporadic NFLE to assess the role of the mutations of CHRNA4, CHRNB2 and CHRNA2 in the pathogenesis of sporadic NFLE.
Materials and Methods
We obtained clinical information from 33 unrelated outpatients(19 male) with sporadic NFLE and the diagnosis of these patients was based on the clinical history, EEG/ictal VEEG and cranial magnetic resonance imaging(MRI).DNA was extracted from peripheral blood of these patients and 100 healthy control persons by using a standard proteinase K digestion and phenol-chloroform method,we performed a mutation screening in 33 unrelated patients with sporadic NFLE by amplifying and sequencing bidirectionally the part of CHRNA4,CHRNB2 and CHRNA2 which containing the TM 1-3 and the mutaions reported in ADNFLE.We used PCR-RFLP analysis with restriction enzyme Cac8Ⅰand MscⅠto confirm the novel two substitutions presented in sequencing in CHRNA4 and screen them in 100 healthy controls.We investigated the the role of the mutations of CHRNA4,CHRNB2 and CHRNA2 in the pathogenesis of sporadic NFLE by analysising the mutation property,the transferring of the mutation in family and the conservative extent of the amino acid residue resulted from the mutation among species and other nAChR subunits.
Results
In 33 chinese patients with sporadic NFLE,the segment containing the TM 1-3 of exon 5 in CHRNA4 was sequenced bidirectionally for mutations.It identified a heterozygous mutation in one patient,G923A,while it was a missense mutation and resulted in a change from arginine to histidine(R308H) located in the second intracellular loop between the TM 3 and TM 4 and adjacent to TM 3.We also used the same method to show that the mutation was absent in 100 healthy control individuals.We found a potentially novel polymorphism(A1054G) and the polymorphism T1125G known previously.No mutation was found by sequencing bidirectionally a 468-bp segment containing the TM 1-3 ofexon 5 in CHRNB2 in 33 patients with sporadic NFLE. Nor was in CHRNA2.
Conclusion
1.The missense mutation R308H in CHRNA4 in chinese patients with sporadic NFLE in our study may be a genetic etiology and take a important role in the pathogenesis of sporadic NFLE.
2.Mutations external to TM of exon 5 in CHRNA4 may be associated with NFLE/ADNFLE.
3.Our study seems to confirm that exon 5 of CHRNA4 is an hot spot mutation site for NFLE/ADNFLE,while the mutations in CHRNB2 and CHRNA2 are an extremely rare cause of the diseases.
Background and Objectives
The prevalence of epilepsy is estimated at 0.5-1.5%in the world and there are at least 7-8 million epileptics in china,of which 30-40%are medically refractory. Operation to resetting the epilepsy genesis is an effective therapy for medically refactory epilepsy,while localizating the functional areas around the epilepsy genesis before surgery is important to minimizing the impairment of the surgery and became a hotspot in presurgical assessment in patients with epilepsy.Many studies showed that fMRI has become a routine clinical technique for language lateralization and mapping before epilepsy surgery,because of the noninvasive and reliability.It was demonstrated that using the laterality index and the semantic task in fMRI were the best way to lateralizing the hemispheric language dominance(HLD),while the LI in inferior frontal gyms was more consistent with LI in Wada test than LI in temporopariental region and LI was associated with many factors such as age at onset,epilepsy duration and so on.Several studies suggested that the lateralization were different in reading Chinese characters and English words in same patients in fMRI.Recent studies demonstrated that fMRI-LI in presurgery assessment could predict the naming function decline after left anterior temporal lobectomy(L-ATL),in which the LI in temporopariental had the more predictive effect.However,few studies were performed to investigate the effect of LI aboved in language fMRI in chinese patients with temporal lobe epilepsy.In this study,we used fMRI to evaluated presurgical lateralisation of language in chinese patients with drug-resistant temporal lobe epilepsy,investigating the relationship between the total LI and the focal LI(frontal LI and temporoparietal LI),the predictive effedct of LI in the naming decline after anterior temporal lobectomy and the factories associated with LI.
Methods
A prospective cohort study was performed in PUMCH,including 10 patients with drug-resisitant temporal lobe epilepsy,while the diagnosis of these patients was based on the clinical history,EEG/ictal VEEG and cranial magnetic resonance imaging (MRI),and the temporal lobe origin of epilepsy was determined by natural history, clinical history,ictal and interictal VEEG.interictal PET,interictal and/or ictal SPECT, MRI and MRS.The clinical data of them were reviewed.All subjects were examinated with language examination by Aphasia Battery of Chinese(ABC) before the surgery and 6-9 months after surgery.In assessing HLD by using fMRI with chinese semantic task, We took the left inferior frontal region,the left temporoparietal region and the homologous region in right hemisphere as the distinct region of interest(ROI) to calculate each laterality index.Statistical analysis was performed by Cohen's kappa coefficient of agreement comparing the HLD results of the LI in inferior frontal region (LI-IF) or temporoparietal region(LI-TP) with the LI in total.In addition,the correlation between the LI in total and the demographic factors and the clinical factors was analysised by a spearman's correlation analysis or X~2 test.Base on the score of ABC before and after surgery,we investigated the predictive effect of fMRI-LI for the naming changes in patients suffered the ATL.
Results
The HLD indicated by LI-total showed more a baddish agreement with the HLD indicated by LI-IF(kappa=0.375),whereas the HLD indicated by LI-total showed more a good agreement with the HLD indicated by LI-TP(kappa=1).Among the demographic and clinical factors(actal age,age at onset,epilepsy duration,and the side of epilepsy origin),age at onset(r=0.778,p＜0.01) and epilepsy duration were significantly correlation with LI(r=-0.744,p＜0.01).The naming changes predicted by the LI was agreement with the naming changes determined by the score changes of naming in L-ATL group(kappa=0.5),while the LI were significantly negative correlation with the score changes of naming in R-ATL group(r=-0.924,p＜0.01).
Conclusions
The results showed that the LI-TP was more consistent with LI-total by using fMRI to indicating the HLD in non-lesional temporal epilepsy with senmantic chinese task in presurgical estimate,while the age at onset and duration of epilepsy could influence the generation of HLD.The fMRI-LI could predict naming function changes after ATL.
目前世界范围内癫痫的患病率在0.5-1.5%,我国癫痫病人约700-800万左右,大约40%癫痫为特发性,其中遗传因素在特发性癫痫病因中起到重要作用,明确遗传学病因,有利于明确诊断及针对性治疗,促进癫痫控制。常染色体显性遗传夜发性额叶癫痫(autosomal dominant nocturnal frontal lobe epilepsy,ADNFLE)可由烟碱乙酰胆碱受体(neuronal nicotinic acetylcholine receptor,nAChR)α4、β2和α2亚单位编码基因(CHRNA4、CHRNB2、CHRNA2)跨膜区突变所致。ADNFLE与临床中更常见的散发病例夜发性额叶癫痫(nocturnal frontal lobeepilepsy,NFLE)在临床相难于鉴别,并且有报道在散发NFLE患者中发现ADNFLE致病突变CHRNA4-C755T,且为新发突变,并在家系中传递,使NFLE散发病例发展为受累病例更多的ADNFLE家系。结合我国ADNFLE家系罕见、NFLE散发病例多见的实际情况,我们在中国人群NFLE散发病例中筛查nAChR编码基因CHRNA4、CHRNB2和CHRNA2中与ADNFLE相关突变外显子,探讨nAChR相关基因在NFLE发病机制中的作用。
方法
33名中国NFLE患者,经临床资料、家族史及辅助检查VEEG、MRI等综合诊断,男19名,女14名,平均年龄18.76±7.59岁。外周血白细胞酚氯仿法提取基因组DNA,依据CHRNA4、CHRNB2基因序列及其中ADNFLE相关突变位点,应用软件Primer5.0设计聚合酶链反应(PCR)引物及参考文献选取CHRNA2相关引物,PCR分别扩增CHRNA4、CHRNB2、CHRNA2基因中包含跨膜区1-3和与ADNFLE相关已知突变序列,经双向测序筛查突变,通过测序图阅读、文献检索,确认已知突变、单核苷酸多态性与新型变异。对可疑NFLE致病相关新型变异,应用限制性内切酶(Cac8Ⅰ、MscⅠ)酶切及1%琼脂糖凝胶电泳或12%聚丙烯酰胺凝胶电泳鉴定,并以同样方法在100名中国人群健康对照组中筛查新型变异,比较新型变异在病例组及健康对照组的频率,初步确认突变。经突变性质分析、家系传递分析及氨基酸进化保守度分析等遗传学方法比较,探讨突变在NFLE中的作用。
结果
中国人群NFLE散发病例组在CHRNA4筛查中,于一名发病较早、抗癫痫药物效果较差患者中,发现一种新型杂合错义突变G923A,导致位于nAChR-α4亚单位第三、四跨膜区间第二个细胞内环、接近第三跨膜区处发生R308H突变,即精氨酸替换为组氨酸,在100名中国人群健康对照筛查中,未见这一突变;还发现一种可能的新型多态A1054 G,在200条对照染色体中发现1个这种变异。在CHRNA4筛查中,发现一种已知多态T1125G。NFLE散发病例组在CHRNB2和CHRNA2筛查中,未见突变。
结论
1.中国人群散发NFLE病例中存在CHRNA4-E5错义突变R308H,可能为NFLE新型遗传学病因。
2.CHRNA4-E5非跨膜区编码基因突变可能与NFLE/ADNFLE发病相关。
3.CHRNA4为NFLE/ADNFLE相关突变热点,CHRNA2、CHRNB2突变为两者较少见病因。
研究背景及目的
目前世界范围内癫痫的患病率在0.5-1.5%,我国癫痫病人约700-800万左右,其中30-40%为药物难治性,以切除癫痫源为目的的外科手术是治疗难治性癫痫的有效手段,因而对与癫痫源存在密切联系的脑功能区进行精确定位,以较少手术损伤,已成为癫痫术前评估的必要程序和研究热点。大量研究表明,因准确、可靠、无创的优势,功能磁共振成像(functional magnetic resonance imaging,fMRI)已成为癫痫患者术前语言评估中的一种常规应用技术。还有研究表明,应用fMRI显像中感兴趣区激活情况计算的半球侧化指数(laterality index,LI)及语义任务组块设计对语言优势半球(hemispheric language dominance,HLD)的评价准确性更高、局部LI中额部LI较颞顶区LI更显示与Wada试验一致,及LI受患者癫痫发病年龄、癫痫病程等因素影响。同时,也有研究显示在语义任务fMRI中英语等西语系较汉语更易显示偏侧优势。近来,有研究表明癫痫患者术前fMRI评估语言中LI对左前颞叶切除术(left anterior temporal lobectomy,L-ATL)术后患者命名功能下降有预测作用,而颞顶区LI显示更强的预测效力。由于,采用汉语任务、在中国人群颞叶癫痫患者中应用flVIRI的研究还较为缺乏。因此,本研究中,我们应用fMRI技术评估中国药物难治性颞叶癫痫(temporal lobe epilepsy,TLE)患者术前HLD,采用汉语语义任务及额下回、颞顶区总LI为标准判定HLD,并应用语言量表于患者术前术后评估语言功能,探讨fMRI技术在应用汉语语义任务下,于中国颞叶癫痫患者HLD评估中的成像特点、术后语言功能预测作用及LI相关影响因素分析。
方法
在北京协和医院癫痫中心及神经外科就诊且手术的10名药物难治性非病灶性颞叶癫痫患者中进行了一个前瞻性队列研究。通过病史、临床表现、术前综合评估确诊入组病例。收集患者临床资料。患者于术前测量患者语言功能量表(ABC)、fMRI评估语言优势半球。术后6-9个月随访及测量语言功能量表(ABC)。在fMRI评估中,应用汉语语义任务,以左额下回、左颞顶区及对应右侧脑区为感兴趣区,计算LI-总、额下回LI及颞顶区LI,通过Cohen'skappa检验,比较各局部LI与LI-总一致性。通过X~2检验、Spearman's参数计算分析LI与年龄、发病年龄、病程、癫痫源侧等相关性。通过患者术前及术后语言功能量表(ABC)评分变化,分析LI对前颞切除术术后命名功能改变的预测作用。结果
我们采用汉语语义任务fMRI评估中国药物难治性颞叶癫痫患者术前语言功能,结果表明LI-颞顶(kappa=1)较LI-额(kappa=0.375)更准确地指示HLD;同时,本研究显示癫痫发病年龄(r=0.778,p＜0.01)、患病时间(r=-0.744,p＜0.01)与癫痫患者的LI显著相关,及LI-总对L-ATL组患者术后语言命名功能下降预测与命名定性判定间一致性良好(kappa=0.5)、LI-总与R-ATL组患者术后命名改变显著呈负相关(r=-0.924,P＜0.01)。
结论
我们的研究首次表明在应用fMRI汉语语义任务评估颞叶癫痫患者术前HLD中,LI-颞顶而不是LI-额与LI-总指示的HLD更相一致;癫痫发病年龄、癫痫病程对形成非典型HLD起作用;fMRI-LI对前颞叶切除术术后命名功能改变具有预测作用。
Background and Objectives
The prevalence of epilepsy is estimated at 0.5-1.5%in the world and there are at least 7-8 million epileptics in china.Forty percent of them are idiopathic epilepsy, in which the genetic etiology play an important role to the pathogenesis.It is very important to find out the genetic etiology to diagnose and treat the epilepsy.ADNFLE is sometimes associated with mutations in the transmemberane domain(TM) 1-3 in the genes encoding theα4(CHRNA4),β2(CHRNB2)andα2(CHRNA2) subunits of the neuronal nicotinic acetylcholine receptors(nAChRs).Clinically,sporadic cases of nocturnal frontal lobe epilepsy(NFLE) with no demonstrable structural brain lesion are more common than that of ADNFLE and there are no phenotypic difference between sporadic and ADNFLE.In a study,a de novo mutation(CHRNA4-C755T) which had been reported in ADNFLE was found in a lebanese women with sporadic NFLE and was also found in a son with NFLE of the women.Because there is few patient with ADNFLE and a few patients with NFLE in china,we performed a clinical and molecular genetic study in 33 chinese patients of sporadic NFLE to assess the role of the mutations of CHRNA4, CHRNB2 and CHRNA2 in the pathogenesis of sporadic NFLE.
Materials and Methods
We obtained clinical information from 33 unrelated outpatients(19 male) with sporadic NFLE and the diagnosis of these patients was based on the clinical history, EEG/ictal VEEG and cranial magnetic resonance imaging(MRI).DNA was extracted from peripheral blood of these patients and 100 healthy control persons by using a standard proteinase K digestion and phenol-chloroform method,we performed a mutation screening in 33 unrelated patients with sporadic NFLE by amplifying and sequencing bidirectionally the part of CHRNA4,CHRNB2 and CHRNA2 which containing the TM 1-3 and the mutaions reported in ADNFLE.We used PCR-RFLP analysis with restriction enzyme Cac8Ⅰand MscⅠto confirm the novel two substitutions presented in sequencing in CHRNA4 and screen them in 100 healthy controls.We investigated the the role of the mutations of CHRNA4,CHRNB2 and CHRNA2 in the pathogenesis of sporadic NFLE by analysising the mutation property,the transferring of the mutation in family and the conservative extent of the amino acid residue resulted from the mutation among species and other nAChR subunits.
Results
In 33 chinese patients with sporadic NFLE,the segment containing the TM 1-3 of exon 5 in CHRNA4 was sequenced bidirectionally for mutations.It identified a heterozygous mutation in one patient,G923A,while it was a missense mutation and resulted in a change from arginine to histidine(R308H) located in the second intracellular loop between the TM 3 and TM 4 and adjacent to TM 3.We also used the same method to show that the mutation was absent in 100 healthy control individuals.We found a potentially novel polymorphism(A1054G) and the polymorphism T1125G known previously.No mutation was found by sequencing bidirectionally a 468-bp segment containing the TM 1-3 ofexon 5 in CHRNB2 in 33 patients with sporadic NFLE. Nor was in CHRNA2.
Conclusion
1.The missense mutation R308H in CHRNA4 in chinese patients with sporadic NFLE in our study may be a genetic etiology and take a important role in the pathogenesis of sporadic NFLE.
2.Mutations external to TM of exon 5 in CHRNA4 may be associated with NFLE/ADNFLE.
3.Our study seems to confirm that exon 5 of CHRNA4 is an hot spot mutation site for NFLE/ADNFLE,while the mutations in CHRNB2 and CHRNA2 are an extremely rare cause of the diseases.
Background and Objectives
The prevalence of epilepsy is estimated at 0.5-1.5%in the world and there are at least 7-8 million epileptics in china,of which 30-40%are medically refractory. Operation to resetting the epilepsy genesis is an effective therapy for medically refactory epilepsy,while localizating the functional areas around the epilepsy genesis before surgery is important to minimizing the impairment of the surgery and became a hotspot in presurgical assessment in patients with epilepsy.Many studies showed that fMRI has become a routine clinical technique for language lateralization and mapping before epilepsy surgery,because of the noninvasive and reliability.It was demonstrated that using the laterality index and the semantic task in fMRI were the best way to lateralizing the hemispheric language dominance(HLD),while the LI in inferior frontal gyms was more consistent with LI in Wada test than LI in temporopariental region and LI was associated with many factors such as age at onset,epilepsy duration and so on.Several studies suggested that the lateralization were different in reading Chinese characters and English words in same patients in fMRI.Recent studies demonstrated that fMRI-LI in presurgery assessment could predict the naming function decline after left anterior temporal lobectomy(L-ATL),in which the LI in temporopariental had the more predictive effect.However,few studies were performed to investigate the effect of LI aboved in language fMRI in chinese patients with temporal lobe epilepsy.In this study,we used fMRI to evaluated presurgical lateralisation of language in chinese patients with drug-resistant temporal lobe epilepsy,investigating the relationship between the total LI and the focal LI(frontal LI and temporoparietal LI),the predictive effedct of LI in the naming decline after anterior temporal lobectomy and the factories associated with LI.
Methods
A prospective cohort study was performed in PUMCH,including 10 patients with drug-resisitant temporal lobe epilepsy,while the diagnosis of these patients was based on the clinical history,EEG/ictal VEEG and cranial magnetic resonance imaging (MRI),and the temporal lobe origin of epilepsy was determined by natural history, clinical history,ictal and interictal VEEG.interictal PET,interictal and/or ictal SPECT, MRI and MRS.The clinical data of them were reviewed.All subjects were examinated with language examination by Aphasia Battery of Chinese(ABC) before the surgery and 6-9 months after surgery.In assessing HLD by using fMRI with chinese semantic task, We took the left inferior frontal region,the left temporoparietal region and the homologous region in right hemisphere as the distinct region of interest(ROI) to calculate each laterality index.Statistical analysis was performed by Cohen's kappa coefficient of agreement comparing the HLD results of the LI in inferior frontal region (LI-IF) or temporoparietal region(LI-TP) with the LI in total.In addition,the correlation between the LI in total and the demographic factors and the clinical factors was analysised by a spearman's correlation analysis or X~2 test.Base on the score of ABC before and after surgery,we investigated the predictive effect of fMRI-LI for the naming changes in patients suffered the ATL.
Results
The HLD indicated by LI-total showed more a baddish agreement with the HLD indicated by LI-IF(kappa=0.375),whereas the HLD indicated by LI-total showed more a good agreement with the HLD indicated by LI-TP(kappa=1).Among the demographic and clinical factors(actal age,age at onset,epilepsy duration,and the side of epilepsy origin),age at onset(r=0.778,p＜0.01) and epilepsy duration were significantly correlation with LI(r=-0.744,p＜0.01).The naming changes predicted by the LI was agreement with the naming changes determined by the score changes of naming in L-ATL group(kappa=0.5),while the LI were significantly negative correlation with the score changes of naming in R-ATL group(r=-0.924,p＜0.01).
Conclusions
The results showed that the LI-TP was more consistent with LI-total by using fMRI to indicating the HLD in non-lesional temporal epilepsy with senmantic chinese task in presurgical estimate,while the age at onset and duration of epilepsy could influence the generation of HLD.The fMRI-LI could predict naming function changes after ATL.
引文
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