% 0期刊文章% Jose Luiz Pedroso %一个朱莉安娜玛丽亚Thereza Drumond伽马%指出夫妻Arita Gustavo Ravagnani % % Felipe马里奥H Barros %一个利维亚renta Sanches %法罗莎Picosse %塔尼亚奥利维拉Lopes % Patricia de卡瓦略Aguiar %马科斯Chiaratti %卡Habermann Macabelli %一个奥兰多Barsottini马塞洛•罗德里格斯Masruha % %卡塔琳娜州米Quinzii % Hirano陆生%克劳迪娅克里斯蒂娜Ferreiro Barros % T线粒体ND5基因突变:神经系统改进后补充辅酶q10 (P5.122) % D J神经病学2017% % P P5.122 X % V % 88% N 16补充目的:描述患者T398A线粒体ND5基因突变后,提出了提高运动技能补充辅酶q10。首页背景:ND5基因突变患者不同的临床条件中描述,如LHON,米拉Leigh-like综合症和重叠mitochondriopathy综合症。mithocondrial基因的正确识别是强制性的,因为他们可能有一个应对辅酶q疗法。设计/方法:一个6岁的男孩出生以来出现延迟的里程碑。神经系统检查披露认知障碍和严重的共济失调。脑部核磁共振成像显示小脑萎缩。全外显子组序列分析描述homoplasmic线粒体基因的突变T398A ND5。结果:患者有显著改善与剂量补充辅酶q10后55毫克/公斤/天。在治疗6个月后,明显改善演讲,观察测距不准,行走速度和共济失调。估计规模评估和评级的共济失调(SARA)有所改善(辅酶q10补充之前)28日至19分(辅酶q10补充后六个月)。结论:该报告表明ND5基因突变应该调查与辅酶q10疑似mithocondrial疾病和治疗应该立即考虑。披露:Pedroso博士没有披露。博士Drumond伽马没有披露。 Dr. Arita has nothing to disclose. Dr. Ravagnani has nothing to disclose. Dr. Barros has nothing to disclose. Dr. Sanches has nothing to disclose. Dr. Picosse has nothing to disclose. Dr. Lopes has nothing to disclose. Dr. Aguiar has nothing to disclose. Dr. Chiaratti has nothing to disclose. Dr. Habermann Macabelli has nothing to disclose. Dr. Masruha has nothing to disclose. Dr. Barsottini has nothing to disclose. Dr. Quinzii Hirano has nothing to disclose. Dr. Hirano has received (royalty or license fee or contractual rights) payments from MitoRainbow Therapeutics, Inc. Dr. Ferreiro Barros has nothing to disclose. %U