Lafora disease
Loss of GABAergic cortical neurons underlies the neuropathology of Lafora disease
... of Lafora disease are unknown. We hypothesize that, since Lafora disease is a type of epilepsy with GABA neurons impairment, it is possible that neurotrophins may be involved in disease ...
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Progressive Myoclonic Epilepsy: Review Article with A Case Report of Lafora Disease
... The general outcome of LD is gloomy; however, schooling and social activity should be maintained with professional and family cooperation. Regular follow up at the neurology service center should be organized at 6-12 ...
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Treatment with metformin in twelve patients with Lafora disease
... Lafora disease (LD) is a lethal, autosomal recessive, pro- gressive myoclonus ...as Lafora bodies, responsible for disease progression ...
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Nationwide genetic testing towards eliminating Lafora disease from Miniature Wirehaired Dachshunds in the United Kingdom
... the Lafora disease Subcommittee which is part of the Dachshund Breed Council affiliated with the UK Kennel ...The Lafora disease subcommittee instigated data collection but did not play a role ...
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Genotypes and phenotypes of patients with Lafora disease living in Germany
... Lafora disease (LD; EPM2A/B; OMIM #254780) is a se- vere form of progressive myoclonus epilepsy inherited in an autosomal recessive mode and caused by biallelic mu- tations in EPM2A (Laforin) or EPM2B ...
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Genetic diagnosis in Lafora disease: Genotype–phenotype correlations and diagnostic pitfalls
... From the Laboratory of Clinical Biochemistry and Metabolism (J.O.S.), Department of General Pediatrics and Adolescent Medicine, University Children’s Hospital Freiburg, Germany; Department of Pediatric Neurology and ...
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Late-onset Lafora disease with prominent parkinsonism due to a rare mutation in EPM2A
... Exome sequencing was carried out, and we identi- fied candidate genes by prioritizing rare (minor allele frequency , 0.01), homozygous, and nonsynony- mous coding variants. This identified 38 such var- iants, only one of ...
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Genetics of Lafora progressive myoclonic epilepsy: current perspectives
... Lafora disease (LD; OMIM 254780) is an autosomal recessive, progressive metabolic disorder characterized by intractable myoclonus and seizures, inexorable neurological deterioration, cognitive decline, ...
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Clinical Reasoning: Progressive cognitive decline, cerebellar ataxia, recurrent myoclonus, and epilepsy
... Muscle and skin biopsies are effective methods for the dif- ferential diagnosis of PMEs. Further genetic testing is helpful to confirm the diagnosis. Therefore, we carried out muscle and skin biopsies. We also collected ...
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Mystery Case: A young boy with myoclonic jerks
... that Lafora disease “ presents with seizures, usually myo- clonic, clonic or focal, and often has predominant occipital paroxysms on the ...PMEs. Lafora disease is a fatal autosomal recessive ...
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Advancing the application of systems thinking in health: why cure crowds out prevention
... acute disease, called disease A, that is disab- ling, never lethal, and whose duration can be shortened by a visit to a ...condition, disease B, that can never be cured, but which can be prevented ...
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Methodological issues in the design of a rheumatoid arthritis activity score and its cut-offs
... of these were unanimously classified in the same disease activity category by every expert: those of lowest and highest disease activity. Over the whole sample, the mean percentage of judges classifying a ...
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Dysbiosis of the gut microbiota in disease.
... An important pre-requisite for bacteria-based therapy (bacteriotherapy) is defining what constitutes a ‘healthy’ microbiota during and throughout life, which may be defined differently at the population and individual ...
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Pregnancy and periodontal disease
... Periodontal diseases are a group of conditions that cause inflammation and destruction to the supporting structures of the teeth. These chronic oral infections are characterized by the presence of a biofilm matrix that ...
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Noncommunicable disease burden in kerala
... Noncommunicable diseases, especially diabetes, cardiovascular diseases and cancer are common even in rural areas and among younger populations. A large community based study by Thankappan et al revealed that the burden ...
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Importance of neglected disease signaling
... the disease to find viable and effective treatments for the cure and, consequently, a decrease of cases (Oliveira, 2016; Oliveira et ...the disease ranges from 300 to 400 million infections; and according ...
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CT screening: a trade off of risks, benefits, and costs
... atherosclerotic disease and at high risk for a cardiovascular event can be treated effec- tively with aspirin therapy, cholesterol-lowering agents, and, if the patient is hypertensive, with antihyperten- sive ...
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Read PDF
... periodontal disease to cardiovascular dis- ease are inconsistent and lead to conservative ...periodontal disease in weak association as one of the con- founding ...odontal disease in the etiology of ...
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Vol 32, No 10 (2019)
... arterial disease, ischemic heart disease, congestive heart failure, cerebrovascular disease, diabetes mellitus, peripheral venous disease; (3) smoking history; (4) histology, date of ...
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Differential protein profiling as a potential multi marker approach for TSE diagnosis
... the aim of consolidating the results. This type of assay relies on a high degree of reproducibility to achieve robust data for the incorporation into the final disease profile therefore we focused on developing a ...
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