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Brain Single Photon Emission Computed Tomography in Patients with A3243G Mutation in Mitochondrial DNA tRNA

机译:脑单粒子突变在线粒体DNA TRNA中患者的脑唯一光子发射计算断层扫描

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Brain single photon emission computed tomography (SPECT) studies were conducted in three patients with A3243G mutation of the mitochondrial (mt) DNA tRNA. All were born to mothers suffering from chronic progressive external ophthalmoplegia (CPEO) with the same A3243G point mutation of the mtDNA tRNA. The first case manifested clinically with MELAS, the second case manifested with CPEO, and third case was characterized by recurrent migraine-like headache, tremor, and epilepsy. Brain SPECT of all patients, regardless of whether they had or had not suffered from stroke-like episodes, showed multiple areas of asymmetrical decreased perfusion, particularly in the posterior and lateral head regions, especially the temporal lobes. Crossed-cerebellar diaschisis may occur. Conventional brain magnetic resonance images failed to show some of the lesions. Decreased regional cerebral blood flow, rather than previously proposed hyperemia, is likely to be the cause. We conclude that mitochondrial vasculopathy with regional cerebral hypoperfusion may be seen on brain SPECT in patients with mitochondrial disorders and A3243G mutations, regardless of whether they have or have not suffered from stroke-like episodes.
机译:大脑单光子发射计算断层扫描(SPECT)研究是在三个患有线粒体(MT)DNA TRNA的3243g突变患者中进行的。所有人都出生于患有慢性进展外部眼科(CPEO)的母亲,MTDNA tRNA相同的A3243G点突变。第一种案例临床上用MELAS表现出,第二个案例表现为CPEO,第三种情况表征通过复发性偏头痛,震颤和癫痫表征。所有患者的大脑SPECT,无论它们是否具有或未患上卒中相片,都显示出多个不对称的灌注区域,特别是在后部和侧向头部区域,尤其是颞叶。可能会发生交叉的小脑二硅片。传统的脑磁共振图像未能显示一些病变。区域脑血流量减少,而不是先前提出的充血,可能是原因。我们得出结论,无论它们是否具有或没有患有卒中的发作,都可以在脑SPECT上观察到具有区域性脑下浆液的线粒体血管病变。

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