lafora disease การใช้

• Lafora disease, Landau-Kleffner syndrome ( e . g.
• Polyglucosan bodies appear with age; in Lafora disease, their numbers have increased enormously.
• It was further concluded that Lafora disease is a complex neurodegenerative disease and also a glycogen metabolism disorder.
• Lafora disease usually occurs in late childhood and usually leads to death around 10 years after first signs of the disease.
• Lafora disease is also known as Lafora progressive myoclonus epelepsy, which is an autosomal recessive inherited disorder involving recurrent seizures and degradation of mental capabilities.
• Malin, another protein mutated in Lafora disease, aids in the degradation of PTG, with assistance from laforin via the ubiquitin proteasome system ( UPS ).
• In a later study, Lafora disease has been and is now viewed as a neurodegenerative disease, since prior to the actual formation of Lafora bodies there has been seen to be an impairment in the development of cerebral cortical neurons.
• "' Lafora disease "', also called "'Lafora progressive myoclonic epilepsy "'or "'MELF "', is a fatal autosomal recessive genetic disorder characterized by the presence of inclusion bodies, known as Lafora bodies, within the cytoplasm of the cells of the heart, liver, muscle, and skin.