Introduction: LaFora Disease (LD) is a rare form of progressive infantile epilepsy where rapid neurological damage that occurs as the disease advances, which causes the patient to a vegetative state and then die, usually within the first decade of the onset of illness. Based on the capacity of the endogenous cannabinoid system (ECS) to modulate several cellular processes commonly altered in many neurodegenerative processes, as well as the antiepileptic properties of certain natural cannabinoids, the aim of this study was to evaluate the role of ECS in LD developments.

Materials and Methods: We tested whether natural cannabis extract highly enriched in cannabidiol (CBD) may be effective in controlling the pathological phenotype master knockout (KO) mice as an animal model LD. Results: Our results show for the first time that changes in the ECS occurred during the evolution of LD, especially at the level of CB1, CB2, and G protein-coupled receptor-coupled 55 (GPR55) receptor expression, and that the extract CBD-enriched (CBDext) is able to reduce interference cognitive demonstrated by master KO mice.

However, contrary to what has previously been reported for other types of refractory epilepsy in childhood, CBD-enriched extract did not reduce the severity of epileptic seizures induced in animal models of LD. Conclusion: In summary, this study revealed that the ECS may play a role in the LD and that the CBD-enriched extract partially alleviate dementia like phenotype, but did not increase susceptibility to epileptic seizures, exhibited by live animals as disease models -threatening.
Keywords: LaFora disease; cannabidiol; cannabinoids; epilepsy; neurodegeneration.

abnormal carbohydrate structure known as polyglucosan body (PGBs) associated with neurological disorders, glycogen storage disease (GSDs), and aging. A hallmark of the disease GSD LaFora (LD), a fatal epilepsy in children caused by recessive mutations in EPM2A or EPM2B gene, which PGBs cytoplasm known as LaFora body (LBS). LBS result from aberrant glycogen metabolism and disease progression drive. They are abundant in the brain, muscles and heart patients and Epm2a LD – / – and Epm2b – / – mice. LBS and histologically PGBs remind starch, carbohydrates semicrystalline synthesized for the storage of glucose in the plant.

In this study, we define the architecture LB, tissue-specific differences, and dynamics. We propose a model for how small polyglucosans aggregate to form LBS. LBS is very similar to PGBs aging and other neurological disorders, so this research has direct relevance to the general understanding of the structure and formation PGB.

disease LaFora

Progressive myoclonic epilepsies (PMEs) is a rare genetic disorder of various age groups (infants, children, youth, or adult-onset) is characterized by progressive myoclonus, epileptic seizures and in most cases, dementia and ataxia. Death is the worst possible outcome.

Genetic research has led to the identification of many genes culprit, and others are expected to be found. PMEs including disease Unverricht-Lundborg (ULD), disease LaFora (LD), lipofuscinoses ceroid neuronal, sialidosis type I, epilepsy myoclonus and fiber red ragged (MERRF), Gaucher disease type 3, dentatorubral-pallidoluysian atrophy (DRPLA), and other rare forms of PMEs.

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This article will review LaFora disease, autosomal recessive PME characterized by loud and photosensitive myoclonic seizures, drop attacks, ataxia, apraxia, cortical blindness, and rapidly progressive dementia. diagnosis requires the presence of pathognomic LaFora bodies (abnormal glycogen inclusions) in tissue biopsies in addition to the exclusion of other forms of PMEs.