本文選題：良性成人家族性肌陣攣癲癇 + 皮質(zhì)肌陣攣��； 參考：《中南大學(xué)》2014年博士論文

【摘要】：背景：良性成人家族性肌陣攣癲癇(Benign Adult Familial Myoclonic Epilepsy, BAFME)是一種常染色體顯性遺傳病,以肢體遠(yuǎn)端細(xì)微皮質(zhì)肌陣攣樣震顫(myoclonic tremor)和全面性強(qiáng)直-陣攣發(fā)作(generalized tonic-clonic seizure, GTCS)為特征,呈良性病程。既往關(guān)于該病的神經(jīng)影像學(xué)報道僅有三篇,其中僅有一篇DTI(Diffusion tensor imaging)結(jié)構(gòu)磁共振報道,且局限于小腦,以上影像學(xué)資料與荷蘭和南非類似家系所做的尸檢結(jié)果一致,均提示小腦存在異常。但是,另有體感誘發(fā)電位、經(jīng)顱磁刺激等電生理研究表明該病患者感覺運(yùn)動皮質(zhì)興奮性增高。針對以上報道,有學(xué)者提出小腦-丘腦-皮質(zhì)環(huán)路假說,即由小腦病變導(dǎo)致小腦投射至皮質(zhì)的抑制纖維減少,引起皮質(zhì)興奮性增高,使患者產(chǎn)生肌陣攣樣震顫或癲癇。然而,在某些其他相似的小腦損傷的疾病中,并無皮質(zhì)肌陣攣樣震顫的發(fā)生,可見該假說并不能完全解釋BAFME患者小腦結(jié)構(gòu)和病理異常與皮質(zhì)生理異常的關(guān)系。所以,我們研究BAFME患者全腦白質(zhì)微結(jié)構(gòu),為該病的發(fā)病機(jī)制提供證據(jù)。 方法：對來自一漢族BAFME大家系的12例患者(平均年齡±SD,男／女；42.8±13.2歲,9/3)和15例健康對照者(39.5±14.5歲,9/6)行DTI,用基于白質(zhì)骨架的空間統(tǒng)計(Tract-Based Spatial Statistics, TBSS)分析兩組間全腦白質(zhì)的差異。 結(jié)果：與健康對照組相比,BAFME患者右側(cè)小腦、楔前葉、中央前回和雙側(cè)殼核各向異性分?jǐn)?shù)(fractional anisotropy, FA)值顯著降低(p0.01)。 結(jié)論：BAFME患者小腦、中央前回、殼核和楔前葉腦白質(zhì)分?jǐn)?shù)各向異性值顯著降低可作為BAFME早期輔助診斷的影像學(xué)指標(biāo)。 背景：基于體素的腦形態(tài)學(xué)測量方法(Voxel-based morphometry,VBM)是一種分析MRI數(shù)據(jù)的工具,用來發(fā)現(xiàn)大腦白質(zhì)和灰質(zhì)的異常,目前,該法已被廣泛應(yīng)用于不同癲癇綜合征的腦形態(tài)學(xué)研究,但至今尚無將VBM應(yīng)用于BAFME研究的報道。迄今,多項(xiàng)神經(jīng)影像學(xué)和尸檢報道BAFME患者存在小腦病理改變,同時電生理研究提示皮質(zhì)生理學(xué)改變,即初級感覺運(yùn)動皮質(zhì)興奮性增高,基于以上研究,有學(xué)者提出小腦-丘腦-皮質(zhì)環(huán)路(cerebello-thalamo-cortical loop)假說。既往文獻(xiàn)均局限于小腦的病理生理研究,但BAFME患者的肌陣攣樣震顫可能由于小腦-丘腦-皮質(zhì)環(huán)路不同區(qū)域存在異常,包括初級感覺運(yùn)動皮質(zhì)、基底節(jié)和小腦。所以,本研究將初級感覺運(yùn)動皮質(zhì)、基底節(jié)和小腦作為感興趣區(qū)(region of interest,ROI),研究BAFME患者腦灰質(zhì)結(jié)構(gòu)異常。 方法：對來自一漢族BAFME大家系的12例患者(平均年齡±SD,男／女；42.8±13.2歲,9/3)和15例健康對照者(39.5±14.5歲,9/6)行核磁三維立體成像(3D-T1W),將初級感覺運(yùn)動皮質(zhì)、基底節(jié)和小腦制成ROI模板(mask),用VBM分析兩組間ROI腦灰質(zhì)結(jié)構(gòu)的差異。 結(jié)果：與健康對照組相比,BAFME患者組在雙側(cè)丘腦、小腦蚓和右側(cè)小腦皮質(zhì)區(qū)域存在明顯的灰質(zhì)容積(grey matter volume, g-MV)下降(p0.01)。 結(jié)論：小腦和丘腦灰質(zhì)容積下降提示小腦-丘腦-皮質(zhì)環(huán)路在BAFME的發(fā)病機(jī)制中發(fā)揮重要作用,亦可作為BAFME的輔助診斷指標(biāo)。
[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 鹵 SD , male / female ) from all department of BAFME were analyzed .
DTI was performed in 42.8 鹵 13.2 years , 9 / 3 ) and 15 healthy controls ( 39.5 鹵 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 鹵 SD , male / female ) from all department of BAFME were analyzed .
Three - dimensional nuclear magnetic three - dimensional imaging ( 3D - T1W ) was performed on 42.8 鹵 13.2 years old , 9 / 3 ) and 15 healthy controls ( 39.5 鹵 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 .
【學(xué)位授予單位】：中南大學(xué)
【學(xué)位級別】：博士
【學(xué)位授予年份】：2014
【分類號】：R742.1

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本文編號：2013576