OBJECTIVE:To examine the neuropsychologic profile of MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes) and relate it to neuropathologic findings. BACKGROUND:MELAS is one of over 40 mitochondrial disorders. Symptoms include seizures, strokelike episodes, headaches, memory impairment, hemianopsia, hearing loss, short stature, diffuse limb weakness, exercise intolerance, nausea, and vomiting. Age of onset ranges from 2 to 40 years. A hallmark of MELAS is normal development until the first symptoms appear. METHOD:Because information regarding the neuropsychologic functioning of these individuals is sparse, we report findings from detailed neuropsychologic evaluations for a 13-year-old white male and a 33-year-old African-American male with MELAS. RESULTS:Results revealed global patterns of deterioration in executive function, attention, language, memory, visuospatial, and motor functioning. In both patients, brain scans revealed posterior pathology in the absence of frontal pathology. CONCLUSIONS:We compared our findings with other documented cases and concluded that MELAS is characterized by a pattern of global deterioration. This pattern differs from that observed in other mitochondrial disorders. The absence of identifiable frontal lobe pathology despite the presence of deficits in executive functioning may be related to the distribution patterns of deficient mitochondria and neuronal projection patterns.

译文

目的:研究MELAS的神经心理学特征(线粒体肌病,脑病,乳酸性酸中毒和中风样发作),并将其与神经病理学发现相关联。
背景:MELAS是40多种线粒体疾病之一。症状包括癫痫发作,中风样发作,头痛,记忆力减退,偏瘫,听力下降,身材矮小,肢体弥漫无力,运动不耐受,恶心和呕吐。发病年龄为2至40岁。 MELAS的标志是正常发展,直到出现第一个症状。
方法:由于有关这些人的神经心理功能的信息稀少,因此我们报告了详细的神经心理学评估结果,这些评估是针对一名13岁的白人男性和33岁的非洲裔美国男性与MELAS进行的。
结果:结果揭示了执行功能,注意力,语言,记忆,视觉空间和运动功能下降的整体模式。在这两名患者中,脑部扫描显示在没有额叶病理的情况下为后部病理。
结论:我们将我们的发现与其他已记录的病例进行了比较,得出的结论是,MELAS的特征在于全球恶化的模式。这种模式不同于其他线粒体疾病中观察到的模式。尽管执行功能存在缺陷,但缺乏可识别的额叶病理可能与线粒体缺乏和神经元投射模式的分布模式有关。

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