Unusual Course of Lafora Disease
نویسندگان
چکیده
منابع مشابه
Unusual Course of Lafora Disease
A 42-year-old male was admitted for refractory status epilepticus. At the age of 25, he had been diagnosed with juvenile myoclonic epilepsy. He had a stable clinical course for over a decade until a recent deterioration of behavior and epilepsy. After exclusion of acquired disorders, diagnostic work-up included application of next-generation sequencing (NGS), with a gene panel targeting progres...
متن کاملLafora disease diagnosed by liver biopsy.
A patient with progressive myoclonus epilepsy and Lafora bodies in the central nervous system also has a material with staining properties similar to polyglucosans in other organs. This suggests that Lafora disease is a glycometabolic disorder (Harriman et al. 1955). Liver biopsy (Inoue et al. 1974; Nishimura et al. 1980), muscle biopsy (Carpenter et al. 1974) and skin biopsy (Carpenter et al. ...
متن کاملPTG Depletion Removes Lafora Bodies and Rescues the Fatal Epilepsy of Lafora Disease
Lafora disease is the most common teenage-onset neurodegenerative disease, the main teenage-onset form of progressive myoclonus epilepsy (PME), and one of the severest epilepsies. Pathologically, a starch-like compound, polyglucosan, accumulates in neuronal cell bodies and overtakes neuronal small processes, mainly dendrites. Polyglucosan formation is catalyzed by glycogen synthase, which is ac...
متن کاملLafora progressive myoclonus epilepsy: glycogen storage disease vs neurodegenerative disease.
Neurology 2012;79:21–22 Two disease mechanisms operate in Lafora progressive myoclonus epilepsy (Lafora PME) to produce 3 phenotypes (epilepsy, rapid neurologic deterioration, and Lafora polyglucosan inclusion bodies). These 2 disease mechanisms are 1) an error in glycogen metabolism and 2) neurodegeneration. The question is, which comes first and which is primary and more important in disease ...
متن کاملLafora disease: a progressive myoclonus epilepsy.
Lafora disease is a rare inborn error of metabolism resulting in storage of a polyglucosan in tissues including the brain, skin and liver. Four children are described with progressive myoclonus epilepsy and intellectual deterioration in whom this diagnosis was made. In two the diagnosis was confirmed by the presence of periodic acid schiff (PAS) positive, diastase resistant, colloidal iron stai...
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ژورنال
عنوان ژورنال: Epilepsia Open
سال: 2016
ISSN: 2470-9239
DOI: 10.1002/epi4.12009