Long-term outcome of Leigh syndrome caused by the NARP-T8993C mtDNA mutation
Long-term outcome of Leigh syndrome caused by the NARP-T8993C mtDNA mutation
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DOI：
10.1002/ajmg.a.31880
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发表时间：
2007-09-01
影响因子：
2
通讯作者：
Mitchell, Grant A.
中科院分区：
文献类型：
--
作者：
Debray, Francois-Guillaume;Lambert, Marie;Mitchell, Grant A.
线粒体DNA （mtDNA）核苷酸8993突变可引起神经源性虚弱、共济失调和视网膜色素变性（NARP综合征），或母系遗传Leigh综合征（LS）， mtDNA突变量与神经系统疾病的严重程度相关。临床上一般认为T8993C突变比T8993G突变更轻，但当异质性水平超过90%时，就会发现进行性神经退行性变。我们报告了一个长期随访的患者谁在4岁时提出了典型的LS，但显示了一个意想不到的解决他的症状和良好的结果。18岁时，神经系统检查接近正常，无周围神经病变和视网膜病变。mtDNA分析发现患者血液白细胞中存在高水平（> 95%）的T8993C突变。本病例报告和文献综述强调了T8993C突变表型表达的可变性，以及对此类患者进行预测性咨询时需要谨慎。(c) 2007 Wiley-Liss, Inc。
Mutations at mitochondrial DNA (mtDNA) nucleotide 8993 can cause neurogenic weakness, ataxia and retinitis pigmentosa (NARP syndrome), or maternally inherited Leigh syndrome (LS), with a cot-relation between the amount of mutant mtDNA and the severity of the neurological disease. The T8993C mutation is generally considered to be clinically milder than the T8993G mutation but when the level of heteroplasmy exceeds 90%, progressive neurodegeneration has been found. We report on a long-term follow-Lip of a patient who presented at 4 years of age with typical LS but showed an unexpected resolution of his symptoms and a favorable outcome. At 18 years of age, his neurological examination was near normal, with neither peripheral neuropathy nor retinopathy. mtDNA analysis identified the presence of T8993C mutation at high level (> 95%) in the patient's blood leukocytes. This case report and literature review emphasizes the variability of the phenotypic expression of the T8993C mutation and the need for caution in predictive counseling in such patients. (c) 2007 Wiley-Liss, Inc.