青少年肌阵挛癫及其网络连接研究进展

2017-06-22 14:06
武警医学 2017年6期
关键词:网络连接灰质丘脑

孙 伟



专家论坛

孙 伟

青少年肌阵挛性癫;脑结构网络;功能网络

大脑是生物体内结构和功能最复杂的器官,同时它也是极为精巧和完善的信息处理系统。10年前,学者们提出了“脑网络”的概念。“脑网络”主要基于实验测量的反映大脑结构性连接的数据,或大脑功能性连接的数据,计算预先定义的脑区或节点的连接关系,然后构建网络进行分析,这是目前应用最多的一类“脑网络”研究方法。

近年来,越来越多的研究证实,JME患者的脑结构网络和功能网络(包括静息态网络和认知网络等)连接均受到了影响。下面笔者通过对JME相关网络的结构连接及功能连接方面的研究做进一步的综述,以期对近年来JME网络连接进展有更深入的了解。

1 JME患者脑结构及结构网络连接改变

常规磁共振成像(magnetic resonance imaging,MRI)和CT(computered tomography,CT)检查通常不能发现JME患者大脑结构上微小的变化。近年来,随着影像学技术的发展,许多学者通过基于体素形态学分析(voxel-based morphometry,VBM)和弥散张量成像(diffusion tensor imaging,DTI)等技术发现了JME患者大脑的局部结构异常,且异常部位主要集中在额叶结构。VBM是一种基于体素的针对脑组织结构的形态学测量方法,它通过计算磁共振成像(主要是高分辨率的结构扫描图像)中脑的灰质/白质的变化,以定量分析不同群体脑结构的特征和脑组织成分的差异,从而替代了传统上人工勾画感兴趣区域的方法,提高了测量的准确性和可重复性,能够准确、全面评价不同群体脑的神经解剖变化。1999年, Woermann等[12]应用VBM方法首先发现额中回灰质密度发生变化,为JME患者脑局部结构变化提供了依据。Pulsipher等[13]发现,JME患者的丘脑和额叶体积变小。Tae和Betting等[14,15]应用VBM证实了JME患者额叶灰质密度的减少。Kim等[16]发现,JME患者丘脑灰质密度与病程呈负相关关系,并提出JME患者可能有丘脑进行性神经元缺失。

2 JME患者脑功能及功能网络连接改变

除了上述提到的应用较多的VBM、DTI及fMRI手段外,学者们还通过磁共振波谱成像(magnetic resonance spectroscopy, MRS),正电子发射断层显像(positron emission tomography, PET)及经颅磁刺激(transcranial magnetic stimulation,TMS)等技术研究JME患者的脑网络连接变化。Lin等[30]通过MRS发现额中前皮质、初级运动区以及丘脑N-乙酰天门冬氨酸与肌酐的比值(神经元受损的标志)下降;额中前皮层、初级运动区及后扣带回皮质谷氨酸/谷氨酰胺与肌酐的比值减低,说明了广泛的大脑皮质兴奋性降低。Swartz等[31]通过PET发现背外侧前额皮质、运动前区的氟代脱氧葡萄糖减少。同样,利用PET技术,Meschaks等[32]发现JME患者中缝核、海马、背外侧前额皮质的5-羟色胺受体减少。Akgun等[33]通过TMS证实JME患者的运动区皮质兴奋性增加。国内侯文生等[34]也运用同样的方法证实了该结论。

3 小结与展望

[1] Penfield W,Jasper H. Epilepsy and the functional anatomy of the human brain[M].England:Oxford,1954:896-897.

[2] Delgado-Escueta A V, Enrile-Bacsal F E. Juvenile myoclonic epilepsy of Janz[J]. Neurology, 1984,12(10):15-26.

[3] ILAE. Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy[J]. Epilepsia,1989,8(4):389-399.

[4] Genton P, Gélisse P, Thomas P,etal. Juvenile myoclonic epilepsy today: current definitions and limits[J]. Wrightson Biomedial Publishing, 2000,10(9):11-32.

[5] Janz D, Durner M. Epilepsy: a comprehensive textbook[M]. Washington: The National Academies,1998:2389-2400.

[6] Calleja S, Salas-Puig J, Ribacoba R,etal.Evolution of juvenile myoclonic epilepsy treated from the outset with sodium valproate[J]. Seizure,2010,9(6):424-427.

[7] Pedersen S B, Petersen K A.Juvenile myoclonic epilepsy: clinical and EEG features[J]. Acta Neurol Scand,1997, 11(3):160-163.

[8] Genton P,Gelisse P.Juvenile myoclonic epilepsy[J].Arch Neurol, 2001, 58(9): 1487-1490.

[9] Suzuki T, Delgado-Escueta A V, Aguan K,etal. Mutations in EFHC1 cause juvenile myoclonic epilepsy[J]. Nat Genet, 2004,8(8):842-849.

[10] Cossette P, Liu L, Brisebois K,etal. Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy[J]. Nat Genet,2002,7 (2):184-189.

[11] Escayg A, De Waard M, Lee D D,etal. Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia[J]. Am J Hum Genet,2000,5(5):1531-1539.

[12] Woermann F G, Free S L, Koepp M J,etal.Voxel-by-voxel comparison of automatically segmented cerebral gray matter--A rater-independent comparison of structural MRI in patients with epilepsy[J]. Neuroimage, 1999, 10 (4):373-384.

[13] Pulsipher D T, Seidenberg M, Guidotti L,etal. Thalamofrontal circuitry and executive dysfunction in recent-onset juvenile myoclonic epilepsy[J]. Epilepsia, 2009,50(5):1210-1219.

[14] Tae W S, Hong S B, Joo E Y,etal. Structural brain abnormalities in juvenile myoclonic epilepsy patients: volumetry and voxel-based morphometry[J]. Korean J Radiol, 2006, 7 (3):162-172.

[15] Betting L E, Mory S B, Li L M,etal. Voxel-based morphometry in patients with idiopathic generalized epilepsies[J]. Neuroimage, 2006, 32(2):498-502.

[16] Kim J H, Lee J K, Koh S B,etal. Regional grey matter abnormalities in juvenilemyoclonic epilepsy: a voxel-based morphometry study[J]. Neuroimage, 2007, 37(4):1132-1137.

[17] Lin K, Jackowski A P, Carrete J H,etal. Voxel-based morphometry evaluation of patients with photosensitive juvenile myoclonic epilepsy[J]. Epilepsy Res,2009, 86 (2-3):138-145.

[18] Deppe M, Kellinghaus C, Duning T,etal. Nerve fiber impairment of anterior thalamocortical circuitry in juvenile myoclonic epilepsy[J]. Neurology, 2008,71(24):1981-1985.

[19] Vulliemoz S, Vollmar C, Koepp M J,etal. Connectivity of the supplementary motor area in juvenile myoclonic epilepsy and frontal lobe epilepsy[J]. Epilepsia, 2011, 52(3):507-514.

[20] Vollmar C, O’Muircheartaigh J, Symms R S,etal. Altered microstructural connectivity in juvenile myoclonic epilepsy[J]. Neurology,2012,12(78):1555-1559.

[21] Caeyenberghs K, Powell H W R,Thomas R H,etal. Hyperconnectivity in juvenile myoclonic epilepsy: a network analysis[J].NeuroImage, 2015,10(7):98-104.

[22] Devinsky O, Gershengorn J, Brown E,etal. Frontal functions in juvenile myoclonic epilepsy[J]. Neuropsychiatry Neuropsychol Behav Neurol,1997,12(10):243-246.

[23] Fugen S.Cognitive function in juvenile myoclonic epilepsy[J]. Epilepsy & Behavior, 2004,5(7):329-336.

[24] Piazzini A, Turner K, Vignoli A,etal. Frontal cognitive dysfunction in juvenile myoclonic epilepsy[J].Epilepsia, 2008, 49(4): 657-662.

[25] O’Muircheartaigh J, Vollmar C, Barker G J,etal. Focal structural changes and cognitive dysfunction in juvenile myoclonic epilepsy[J]. Neurology, 2011, 76(1):34-40.

[26] Iqbal N, Caswell H L, Hare D J,etal. Neuropsychological profiles of patients with juvenile myoclonic epilepsy and their siblings: A preliminary controlled experimental video-EEG case series[J]. Epilepsy Behav, 2009, 14(3): 516-521.

[27] Vollmar C,O’Muircheartaigh J,Barker G J,etal.Motor system hyperconnectivity in juvenile myoclonic epilepsy: a cognitive functional magnetic resonance imaging study[J].Brain,2011, 12(134) :1710-1719.

[28] Megan L,Devinsky O,Kelly C,etal.Default mode network abnormalities in idiopathic generalized epilepsy[J].Epilepsy Behav,2012,11(23):353-359.

[29] Jiang S,Luo H,xuan L Z, Altered Local Spontaneous Brain Activity in Juvenile Myoclonic Epilepsy: A Preliminary Resting-State fMRI Study[J]. Neural Plasticity,2016,8(24):181-189.

[30] Lin K, Carrete Jr H, Lin J,etal. Magneticresonance spectroscopyreveals an epileptic network in juvenile myoclonic epilepsy[J].Epilepsia, 2009, 50(5):1191-1200.

[31] Swartz B E, Simpkins F, Halgren E.Visual working memory in primary generalized epilepsy:an 18 FDG-PET study[J].Neurology,1996,47 (5):1203-1212.

[32] Meschaks A, Lindstrom P,Halldin C,etal.Regional reductions in serotonin1A receptor bindingin juvenile myoclonic epilepsy[J]. Arch Neurol,2005,62 (6):946-950.

[33] Akgun Y, SoysalA, Atakli D,etal.Cortical excitability in juvenile myoclonic epileptic patients and their asymptomatic siblings:a transcranial magnetic stimulation study[J].Seizure,2009,18 (6):387-391.

[34] 侯文生,张 阳.手指自主按键运动中脑磁图信号的相性分析[J]. 山东大学报(理学版),2011,46(1):1-5.

(2017-04-10收稿 2017-05-05修回)

(责任编辑 梁秋野)

国家自然科学基金(81571267)

孙 伟,博士,主任医师,教授,博士生导师。

100053 北京,首都医科大学宣武医院神经内科

R742.1

猜你喜欢
网络连接灰质丘脑
纤维母细胞生长因子3对前丘脑γ-氨基丁酸能抑制性轴突的排斥作用
个性化设置 Win10 的网络连接信息
运动想象的大尺度动态功能网络连接
人丘脑断面解剖及磁共振图像三维重建
COPD患者认知功能障碍和大脑灰质密度异常的磁共振研究
2型糖尿病对阿尔茨海默病脑灰质的影响:DKI初步研究
丘脑前核与记忆障碍的研究进展
健康成人丘脑体积的磁共振研究*
中小型网络组建技术
基于体素的MR形态学分析对鼻咽癌放疗后脑灰质体积改变的研究