Orsucci Daniele, Caldarazzo Ienco Elena, Montano Vincenzo, Siciliano Gabriele, Mancuso Michelangelo
Unit of Neurology, San Luca Hospital, Lucca, Italy.
Unit of Neurology, San Luca Hospital, Lucca, Italy.
Pharmacol Res. 2022 Jun;180:106228. doi: 10.1016/j.phrs.2022.106228. Epub 2022 Apr 21.
A mitochondrial stroke-like event is an evolving subacute neurological syndrome linked to seizure activity and focal metabolic brain derangement in a genetically determined mitochondrial disorder. The acronym "MELAS" (mitochondrial encephalopathy associated with lactic acidosis and stroke-like lesions) identifies subjects with molecular, biochemical and/or histological evidence of mitochondrial disorder who experience stroke-like lesions. MELAS is a rare inherited mitochondrial disease linked to severe multiorgan involvement and stress-induced episodes of metabolic decompensation and lactic acidosis. Unfortunately, there are no etiopathogenetic therapies for stroke-like episodes to date, and the treatment is mainly based on anti-epileptic drugs and supportive therapies. This perspective opinion article discusses the current care standards for MELAS patients and revises current and innovative emerging therapies for mitochondrial stroke-like episodes.
线粒体卒中样事件是一种逐渐发展的亚急性神经综合征,与遗传性线粒体疾病中的癫痫活动和局灶性脑代谢紊乱有关。首字母缩略词“MELAS”(与乳酸酸中毒和卒中样病变相关的线粒体脑病)用于识别具有线粒体疾病分子、生化和/或组织学证据且出现卒中样病变的患者。MELAS是一种罕见的遗传性线粒体疾病,与严重的多器官受累以及应激诱导的代谢失代偿和乳酸酸中毒发作有关。不幸的是,迄今为止尚无针对卒中样发作的病因治疗方法,治疗主要基于抗癫痫药物和支持性治疗。这篇观点性文章讨论了MELAS患者的当前护理标准,并对线粒体卒中样发作的现有及新兴创新疗法进行了修订。