Serra G, Piccinnu R, Tondi M, Muntoni F, Zeviani M, Mastropaolo C
Institute of Child Neuropsychiatry, University of Sassari, Italy.
Brain Dev. 1996 May-Jun;18(3):185-91. doi: 10.1016/0387-7604(95)00147-6.
A study of mitochondrial DNA disease was carried out on 12 members belonging to three generations of a family from northern Sardinia. On the basis of the diagnostic criteria currently used in the classification of mitochondrial diseases a typical MERRF-MELAS overlap phenotype was seen in 11 patients with the mtDNA tRNA(lys) mutation at nucleotide position 8356. Clinical and instrumental investigations (EEG in particular) were made. Patients were divided into two groups: severely and mildly affected cases. The follow-up was reported. The aim of this study was to identify, through EEG, the early signs of the disease. The EEG findings recorded during the clinical evolution allowed us to recognize four degrees of cerebral involvement, and could also suggest the prognosis.
对来自撒丁岛北部一个家族三代的12名成员进行了线粒体DNA疾病研究。根据目前线粒体疾病分类中使用的诊断标准，在11例核苷酸位置8356处存在线粒体DNA tRNA(lys)突变的患者中观察到典型的肌阵挛性癫痫伴破碎红纤维-线粒体脑肌病伴乳酸酸中毒及卒中样发作重叠表型。进行了临床和仪器检查（尤其是脑电图）。患者被分为两组：重度和轻度受累病例。报告了随访情况。本研究的目的是通过脑电图识别该疾病的早期迹象。临床病程中记录的脑电图结果使我们能够识别出四个脑受累程度，也可以提示预后。
