一汉族良性成人家族性肌阵挛癫痫家系的结构磁共振研究

发布时间：2018-06-13 09:39

本文选题：良性成人家族性肌阵挛癫痫 + 皮质肌阵挛　；参考：《中南大学》2014年博士论文

【摘要】：背景：良性成人家族性肌阵挛癫痫(Benign Adult Familial Myoclonic Epilepsy, BAFME)是一种常染色体显性遗传病,以肢体远端细微皮质肌阵挛样震颤(myoclonic tremor)和全面性强直-阵挛发作(generalized tonic-clonic seizure, GTCS)为特征,呈良性病程。既往关于该病的神经影像学报道仅有三篇,其中仅有一篇DTI(Diffusion tensor imaging)结构磁共振报道,且局限于小脑,以上影像学资料与荷兰和南非类似家系所做的尸检结果一致,均提示小脑存在异常。但是,另有体感诱发电位、经颅磁刺激等电生理研究表明该病患者感觉运动皮质兴奋性增高。针对以上报道,有学者提出小脑-丘脑-皮质环路假说,即由小脑病变导致小脑投射至皮质的抑制纤维减少,引起皮质兴奋性增高,使患者产生肌阵挛样震颤或癫痫。然而,在某些其他相似的小脑损伤的疾病中,并无皮质肌阵挛样震颤的发生,可见该假说并不能完全解释BAFME患者小脑结构和病理异常与皮质生理异常的关系。所以,我们研究BAFME患者全脑白质微结构,为该病的发病机制提供证据。方法：对来自一汉族BAFME大家系的12例患者(平均年龄±SD,男／女；42.8±13.2岁,9/3)和15例健康对照者(39.5±14.5岁,9/6)行DTI,用基于白质骨架的空间统计(Tract-Based Spatial Statistics, TBSS)分析两组间全脑白质的差异。结果：与健康对照组相比,BAFME患者右侧小脑、楔前叶、中央前回和双侧壳核各向异性分数(fractional anisotropy, FA)值显著降低(p0.01)。结论：BAFME患者小脑、中央前回、壳核和楔前叶脑白质分数各向异性值显著降低可作为BAFME早期辅助诊断的影像学指标。背景：基于体素的脑形态学测量方法(Voxel-based morphometry,VBM)是一种分析MRI数据的工具,用来发现大脑白质和灰质的异常,目前,该法已被广泛应用于不同癫痫综合征的脑形态学研究,但至今尚无将VBM应用于BAFME研究的报道。迄今,多项神经影像学和尸检报道BAFME患者存在小脑病理改变,同时电生理研究提示皮质生理学改变,即初级感觉运动皮质兴奋性增高,基于以上研究,有学者提出小脑-丘脑-皮质环路(cerebello-thalamo-cortical loop)假说。既往文献均局限于小脑的病理生理研究,但BAFME患者的肌阵挛样震颤可能由于小脑-丘脑-皮质环路不同区域存在异常,包括初级感觉运动皮质、基底节和小脑。所以,本研究将初级感觉运动皮质、基底节和小脑作为感兴趣区(region of interest,ROI),研究BAFME患者脑灰质结构异常。方法：对来自一汉族BAFME大家系的12例患者(平均年龄±SD,男／女；42.8±13.2岁,9/3)和15例健康对照者(39.5±14.5岁,9/6)行核磁三维立体成像(3D-T1W),将初级感觉运动皮质、基底节和小脑制成ROI模板(mask),用VBM分析两组间ROI脑灰质结构的差异。结果：与健康对照组相比,BAFME患者组在双侧丘脑、小脑蚓和右侧小脑皮质区域存在明显的灰质容积(grey matter volume, g-MV)下降(p0.01)。结论：小脑和丘脑灰质容积下降提示小脑-丘脑-皮质环路在BAFME的发病机制中发挥重要作用,亦可作为BAFME的辅助诊断指标。
[Abstract]:Background : In the case of benign adult familial myoclonic seizures ( BAFME ) , there are only three cases of autosomal dominant hereditary disorder characterized by myoclonic seizure and generalized tonic - clonic seizure ( GTCS ) .

Methods : 12 patients ( mean age 卤 SD , male / female ) from all department of BAFME were analyzed .
DTI was performed in 42.8 卤 13.2 years , 9 / 3 ) and 15 healthy controls ( 39.5 卤 14.5 years , 9 / 6 ) , and the difference of whole brain white matter was analyzed with spatial statistics based on white matter skeleton ( TBSS ) .

Results : Compared with the healthy control group , the values of the right cerebellum , wedge anterior lobe , central anterior gyrus and bilateral shell nuclear anisotropy fraction ( FA ) of BAFME patients were significantly lower ( p < 0.01 ) .

Conclusion : The anisotropy value of white matter in cerebellum , anterior central gyrus , shell nucleus and wedge anterior lobe of BAFME patients decreased significantly , which could be used as imaging index for early diagnosis of BAFME .

BACKGROUND : Voxel - based cortical loop ( VBM ) is a tool for analyzing MRI data . It has been widely used in brain morphological studies of different epilepsy syndromes .

Methods : 12 patients ( mean age 卤 SD , male / female ) from all department of BAFME were analyzed .
Three - dimensional nuclear magnetic three - dimensional imaging ( 3D - T1W ) was performed on 42.8 卤 13.2 years old , 9 / 3 ) and 15 healthy controls ( 39.5 卤 14.5 years , 9 / 6 ) . The primary sensory motor cortex , basal ganglia and cerebellum were made into ROI template ( mask ) .

Results : Compared with the healthy control group , the grey matter volume ( g - MV ) of the patients with BAFME was decreased ( p < 0.01 ) .

Conclusion : The decrease of gray matter volume in cerebellum and thalamus suggests that the cerebellar - thalamus - cortical loop plays an important role in the pathogenesis of BAFME , and can also be used as an auxiliary diagnostic index for BAFME .
【学位授予单位】：中南大学
【学位级别】：博士
【学位授予年份】：2014
【分类号】：R742.1

【参考文献】