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• W2884518336 startingPage "649" @default.
• W2884518336 abstract "Progressive myoclonus epilepsies (PMEs) constitute a rare and heterogeneous group of genetic disorders with a distinctive triad of myoclonus, seizures, and progressive neurological deterioration. PMEs, even though rare, are arguably the severest form of epilepsies accounting for <1% of all epilepsies with age at onset varying from infancy to adulthood, depending on the disease. A majority are inherited as autosomal recessive traits, however rare types following autosomal dominant and mitochondrial inheritance are also present. Areas covered: This review discusses the genetics, molecular pathogenesis, and diagnosis of six major forms of PMEs, the current pharmacological interventions under practice and alternative treatment strategies. It also provides an update on the contemporary attempts, such as gene therapy, for etiological treatment of PMEs. Finally, it comments on the autophagy and lysosomal dysfunction, which has emerged as a unifying mechanism underlying the neurodegeneration in PMEs. Expert commentary: Despite the tremendous progress made in identifying the defective genes and dissecting their functional pathways, no etiological treatment is currently available. Thus, an integrated approach to personalized medicine with new drugs, gene therapy, and enzyme replacement therapy hold the promise in pursuit of neurotherapeutic treatment of PMEs." @default.
• W2884518336 created "2018-08-03" @default.
• W2884518336 creator A5015767586 @default.
• W2884518336 creator A5030371784 @default.
• W2884518336 date "2018-08-03" @default.
• W2884518336 modified "2023-10-13" @default.
• W2884518336 title "New discoveries in progressive myoclonus epilepsies: a clinical outlook" @default.
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