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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Gradual cerebellar changes; maculopathy with cherry-red spot. SRJ is a prestige metric based on the idea that not all citations are the same.

He died of aspiration pneumonia 8 years after disease onset. Print Send to a friend Export reference Mendeley Statistics.

Their parents were not consanguineous, although both were from the same village of some inhabitants. Lafora disease is clinically characterised by generalised tonic-clonic seizures, myoclonias, progressive mental decline, and pyramidal, extrapyramidal, and cerebellar signs. We present the case of a year-old male whose gestation and birth were uneventful.

Hum Mol Genet, 8pp. Multiple Lafora bodies in myocytes. These hallucinations are typical of Lafora disease. Intermittent light stimulation generated a photoparoxysmal response at low frequencies.

Lafora disease – Wikidata

Psychomotor development and educational level were also normal until the age of In conclusion, doctors should assign a suspected diagnosis of Lafora disease when a young patient in late childhood or adolescence begins experiencing myoclonias followed by ataxia and progressive cognitive decline with no evidence of structural changes in neuroimaging tests and no metabolic changes in the analytical study. Oligosaccharide deficiency in urine and neuraminidase deficiency in fibroblasts.

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

There were no relevant changes in the motor system or in sensitivity. They are especially common in biopsies of axillary skin. Adult-onset moyamoya disease in enfedmedad patient with The disease is caused by a homozygous EPM2 mutation linked to chromosome 6q, which codifies tyrosine phosphatase laforina protein involved in the metabolic control of glycogen. Subscribe to our Newsletter. Rev Neurol, 25pp. He presented bladder and bowel incontinence and tetraparesis, and became confined to bed and armchair.

Slow progression, mild enfermedav late-onset cerebellar impairment; absence of dementia. Both biopsies were compatible with Lafora disease.

He lost functional abilities to the point of becoming completely disabled; nasogastric feeding was required since his frequent palatal myoclonias provoked difficulty swallowing. In theory, doctors can offer genetic counselling and establish a prenatal diagnosis when the genetic anomaly has been detected in a family member.


Are you a health professional able to prescribe or dispense drugs? Rev Cubana Pediatr, 73pp. 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. Axillary skin biopsies Fig. Oafora, the baseline record becomes slower and more disorganised. Differential diagnosis of progressive myoclonic epilepsies.

They are characterised by increasingly frequent spike- or polyspike-wave paroxysms. SNIP measures contextual citation impact by wighting citations based on the total number of citations in a subject field.

The Journal accepts works on basic as well applied research on any field of neurology. Paraneoplastic chorea caused by anti-CRMP5 antibodies During the following months, he presented several generalised tonic-clonic seizures. Occipital seizures are characterised by simple visual hallucinations that are sometimes complex.

Disease progression was aggressive, with multiple generalised tonic-clonic, myoclonic, and partial seizures accompanied by visual symptoms that persisted in spite of treatment with several drug combinations.

Doctors also observed declining academic performance with multiple cognitive deficits mainly affecting visuospatial and literacy abilities.