Phenotype variations in Lafora progressive myoclonus epilepsy: possible involvement of genetic modifiers?
نویسندگان
چکیده
منابع مشابه
Progressive myoclonus epilepsy without Lafora bodies.
Many attempts have been made to define consistent clinical and pathological entities within the syndrome of progressive myoclonus epilepsy. The existence of a specific metabolic defect underlying one form of the disease is suggested by the presence of characteristic cerebral inclusion bodies (Lafora and Glueck, 1911) and of material with similar staining properties in liver and muscle (Harriman...
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...
متن کاملRole of genetic modifiers in Lafora progressive myoclonus epilepsy-a neurodegenerative disorder with defects in carbohydrate metabolism
Lafora progressive myoclconus epilepsy, also known as Lafora disease (LD), is the most severe and fatal form of progressive myoclonus epilepsy with its typical onset during the late childhood or early adolescence. LD is characterised by the presence of abnormal glycogen inclusions – called the polyglucosan bodies – in the neurons and various other affected tissues. Therefore defects in the glyc...
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 کاملGenetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22.
BACKGROUND Lafora disease is a progressive myoclonus epilepsy with polyglucosan accumulations and a peculiar neurodegeneration with generalised organellar disintegration. It causes severe seizures, leading to dementia and eventually death in early adulthood. METHODS One Lafora disease gene, EPM2A, has been identified on chromosome 6q24. Locus heterogeneity led us to search for a second gene u...
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ژورنال
عنوان ژورنال: Journal of Human Genetics
سال: 2012
ISSN: 1434-5161,1435-232X
DOI: 10.1038/jhg.2012.29