The genetics of Leigh syndrome and its implications for clinical practice and risk management.
The genetics of Leigh syndrome and its implications for clinical practice and risk management.
复制标题
Leigh 综合征的遗传学及其对临床实践和风险管理的影响。
DOI：
10.2147/tacg.s46176
复制
发表时间：
2014
期刊：
影响因子：
--
通讯作者：
Saneto RP
中科院分区：
文献类型：
--
作者：
Ruhoy IS;Saneto RP
Leigh syndrome, also referred to as subacute necrotizing encephalomyelopathy, is a severe, early-onset neurodegenerative disorder that is relentlessly progressive and devastating to both the patient and the patient’s family. Attributed to the ultimate failure of the mitochondrial respiratory chain, once it starts, the disease often results in the regression of both mental and motor skills, leading to disability and rapid progression to death. It is a mitochondrial disorder with both phenotypic and genetic heterogeneity. The cause of death is most often respiratory failure, but there are a whole host of complications, including refractory seizures, that may further complicate morbidity and mortality. The symptoms may develop slowly or with rapid progression, usually associated with age of onset. Although the disease is usually diagnosed within the first year of life, it is important to note that recent studies reveal phenotypic heterogeneity, with some patients having evidence of in utero presentation and others having adult-onset symptoms.
