SCARB2mutations in progressive myoclonus epilepsy (PME) without renal failure
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 کاملProgressive familial myoclonus epilepsy.
Seven cases of progressive familial myoclonus epilepsy occurring in three families are presented. The patients were in different stages of the illness. The EEG was abnormal in all. It is suggested that these cases belong clinically to the Lafora bodies group. Nystagmus and optic atrophy, seen in one patient, have not been described previously. Myoclonic jerks did not respond to treatment with d...
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 کاملMutation in the mitochondrial tRNAIle gene causes progressive myoclonus epilepsy
PURPOSE The group of the rare progressive myoclonic epilepsies (PME) include a wide spectrum of mitochondrial and metabolic diseases. In juvenile and adult ages, MERRF (myoclonic epilepsy with ragged red fibres) is the most common form. The underlying genetic defect in most patients with the syndrome of MERRF is a mutation in the tRNALys gene, but mutations were also detected in the tRNAPhe gen...
متن کاملProgressive myoclonus epilepsy associated with SACS gene mutations
Pathogenic variants in the SACS gene (OMIM #604490) cause autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). ARSACS is a neurodegenerative early-onset progressive disorder, originally described in French Canadians, but later observed elsewhere.(1) Whole-exome sequencing of a large group of patients with unclassified progressive myoclonus epilepsies (PMEs) identified 2 patients ...
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ژورنال
عنوان ژورنال: Annals of Neurology
سال: 2009
ISSN: 0364-5134,1531-8249
DOI: 10.1002/ana.21765