Enfermedad de Lafora y efecto fundador en una pequeña localidad neotropical. Rev. biol. trop [online]. , vol, n, pp. ISSN Lafora disease (LD) is a rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations. La Metformina, designada medicamento huérfano para la enfermedad de Lafora en Estados Unidos.

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Oligosaccharide deficiency in urine and neuraminidase deficiency in fibroblasts. CNS Drugs, 24pp. Letter to the Editor.

Subsequently, the baseline record becomes slower and more disorganised. Brain MRI showed moderate overall cerebral and cerebellar atrophy. Macular degeneration and visual impairment except in the adult form.

During the following months, he presented several generalised tonic-clonic seizures. It is edited by Dr.

La Metformina, designada medicamento huérfano para la enfermedad de Lafora en Estados Unidos

Subscribe to our Newsletter. This disease presents no sex-related differences and it is predominantly found in southern European countries. He was initially diagnosed with juvenile myoclonus epilepsy and treated with valproic acid mg per day associated with clonazepam 40 enferemdad per day.


His different types of epileptic seizures were classified as atypical absence seizures, multifocal cortical myoclonus, and generalised tonic-clonic seizures. Their parents were not consanguineous, although both were from the same village of some inhabitants.

Enferemdad light stimulation generated a photoparoxysmal response at low frequencies. Brain MRI showed moderate overall cerebral and cerebellar atrophy. Differential diagnosis of progressive myoclonic epilepsies. Psychomotor development and educational level were also normal until the age of Rev Cubana Pediatr, 73pp.

The Journal accepts works on basic as well applied research on any field of neurology.

Lafora disease – Wikidata

SRJ is a prestige metric based on the idea that not all citations are the same. Multiple Lafora bodies in myocytes. Analytical tests, including a haemogram, renal, liver, and thyroid profiles, copper, ceruloplasmin, creatine kinase, antineuronal antibodies, and baseline and post-exercise lactate levels, all yielded normal results.

Cranial CT yielded normal results; EEG revealed overall slowing of the background activity plus some diffuse spike-wave complexes. Se continuar a navegar, consideramos que aceita o seu uso. Results from the lysosomal enzyme study were also unremarkable.


Brain MRI shows no relevant changes in initial and intermediate stages of the disease; final stages are characterised by cerebral and cerebellar atrophy.

Epilepsia, 31pp. Polyglucosan inclusions Lafora bodies. SJR uses a similar algorithm as the Google page rank; it provides a quantitative and qualitative measure of the journal’s impact.

There were no relevant changes in the motor system or in sensitivity. The Impact Factor measures the average number of citations received in a particular year by papers published in the journal during the two receding years.

They are characterised by different types of epileptic seizures mainly myoclonicintellectual impairment, and other clinical manifestations mainly involving the cerebellum. Adult-onset moyamoya disease in a patient with General physical examination revealed no cutaneous stigmata phacomatosisvisceromegalies, or retinal cherry-red spots. The basophilic intermyofibrillar network was increased by multiples fibres forming small round basophilic deposits, which were PAS-positive according to enzymatic oxidation methods.

Paraneoplastic chorea caused by anti-CRMP5 antibodies