Illness-induced exacerbation of Leigh syndrome in a patient with the MTATP6 mutation, m. 9185 T>C
Illness-induced exacerbation of Leigh syndrome in a patient with the MTATP6 mutation, m. 9185 T>C
复制标题
DOI：
10.1016/j.mito.2010.05.006
复制
发表时间：
2010-08-01
期刊：
影响因子：
4.4
通讯作者：
Singh, Keshav K.
中科院分区：
文献类型：
--
作者：
Saneto, Russell P.;Singh, Keshav K.
导致Leigh综合征的最常见的线粒体DNA(MtDNA)突变位于MTATP6基因中。我们报告了一种罕见的突变，m.9185T>；C，它导致进行性的，但部分恢复的间歇性神经损害模式。疾病进展与发热性病毒疾病和核磁共振成像(MRI)改变相对应。患者表现出近100%的同质性，而他无症状的母亲的同质性为30%。表现为肌肉无力加重，伴有耐力不耐受、言语障碍、共济失调和眼睑下垂，并伴有发热性病毒病。此病例表现为发热性疾病所致疾病恶化的间歇性模式，并伴有相应的MRI改变。(C)2010年Elsevier B.V.和线粒体研究会。版权所有。
The most common mitochondrial DNA (mtDNA) mutations giving rise to Leigh syndrome reside in the MTATP6 gene. We report a rare mutation, m. 9185 T>C that gives rise to a progressive, but episodic pattern of neurological impairment with partial recovery. Disease progression corresponded to febrile viral illness and nuclear magnetic resonance imaging (MRI) changes. The patient displayed nearly 100% homoplasmy, while his asymptomatic mother was 30%. Phenotypically, exacerbations of muscle weakness with endurance intolerance, dysarthric speech, ataxia, and eyelid ptosis accompanied febrile viral illness. This case demonstrates an episodic pattern of febrile illness-induced disease exacerbation with corresponding MRI changes. (C) 2010 Elsevier B.V. and Mitochondria Research Society. All rights reserved.