Progress In Clinical,Imaging And Gene Mutation Of MELAS Syndrome

Mitochondrial encephalopathy with lactic acidosis and stroke-like seizure syndrome(MELAS syndrome)is one of the most frequent maternally inherited mitochondrial disorders.MELAS syndrome is a multisystem disease with a wide variety of clinical manifestations,characterized by recurrent stroke-like attacks,progressive mental retardation or dementia.Some rare clinical manifestations have also been reported.The imaging manifestations of MELAS syndrome mainly include stroke-like lesions,basal ganglia calcification,and brain atrophy.The common feature is that the distribution of the lesions does not coincide with the cerebral vascular control region.The head MR has been dominant in its imaging diagnosis.In recent years,with the continuous development of imaging technology,more new imaging techniques have been applied to the diagnosis of MELAS syndrome and the evaluation of disease prognosis.The most common site of mutation associated with MELAS syndrome is A3243 G in the gene encoding t RNALeu.Rare,new mutation sites and new non-invasive gene detection methods need to be further discovered and studied.