Early-onset ophthalmoplegia in Leigh-like syndrome due to NDUFV1 mutations
Early-onset ophthalmoplegia in Leigh-like syndrome due to NDUFV1 mutations
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DOI：
10.1016/j.pediatrneurol.2006.08.007
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发表时间：
2007-01-01
影响因子：
3.8
通讯作者：
Fischbach, Michel
中科院分区：
文献类型：
--
作者：
Laugel, Vincent;This-Bernd, Valerie;Fischbach, Michel
线粒体疾病可与线粒体和核脱氧核糖核酸的突变相关，对应于各种临床表型。核基因突变，包括NDUFV 1，与婴儿严重脑肌病有关，但基因型-表型相关性仍然难以捉摸。本报告详细介绍了一名7岁男性患者的完整临床、生化和分子数据，该患者在7个月大时出现进行性上眼肌麻痹，后来发展为小脑共济失调、痉挛和肌张力障碍。复合物I缺乏症在肌肉中被证明，NDUFV 1基因中存在两个致病性错义突变。生酮饮食似乎改善了眼麻痹，但无法纠正其他神经症状。考虑到文献中的其他病例，本报告拓宽了我们对NDUFV 1突变的基因型-表型相关性的理解，并说明了生酮饮食在复合物I缺陷患者中的潜在和部分疗效。(c)2007年，Elsevier Inc. All rights reserved.
Mitochondrial disorders can be linked to mutations in both mitochondrial and nuclear deoxyribonucleic acid, corresponding to various clinical phenotypes. Mutations in nuclear genes, including NDUFV1, have been associated with severe encephalomyopathies in infants' but genotype-phenotype correlations have remained elusive. This report details the complete clinical, biochemical, and molecular data of a 7-year-old male who presented at the age of 7 months with progressive oplithalmoplegia and later developed cerebellar ataxia, spasticity, and dystonia. Complex I deficiency was demonstrated in muscle, and two pathogenic missense mutations were present in the NDUFV1 gene. Ketogenic diet has seemingly improved the oculomotor palsy but has been unable to correct other neurologic symptoms. Considering other cases from the literature, this report broadens our understanding of genotype-phenotype correlations for NDUFV1 mutations and illustrates a potential and partial efficacy of ketogenic diet in complex I deficient patients. (c) 2007 by Elsevier Inc. All rights reserved.