Gut He presented bladder and bowel incontinence and tetraparesis, and became confined to bed and armchair. Rev Neurol, 29pp. The basophilic intermyofibrillar network was increased by multiples fibres forming small round basophilic deposits, which were PAS-positive according to enzymatic oxidation methods. Paroxysms caused by intermittent light stimulation grow more frequent and gradually become continuous; photoparoxysmal response is typical at low frequencies. Brain MRI shows no relevant changes in initial and intermediate stages of the disease; final stages are characterised by cerebral and cerebellar atrophy.
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Lafora disease LD is autosomal recessive progressive myoclonus epilepsy with late childhood-to teenage-onset caused by loss-of-function mutations in either EPM2A or EPM2B genes encoding laforin or malin, respectively. The main symptoms of LD, which worsen progressively, are: myoclonus, occipital seizures, generalized tonic-clonic seizures, cognitive decline, neuropsychiatric syptoms and ataxia with a fatal outcome. Pathologically, LD is characterized by the presence of polyglucosans deposits named Lafora bodies, LBs , in the brain, liver, muscle and sweat glands.
Diagnosis of LD is made through clinical, electrophysiological, histological and genetic findings. Currently, there is no treatment to cure or prevent the development of the disease. Traditionally, antiepileptic drugs are used for the management of myoclonus and seizures. However, patients become drug-resistant after the initial stage. LD is a rare disease that has serious consequences for patients and their caregivers despite its low prevalence.
Therefore, continuing research in order to clarify the underlying mechanisms and hopefully developing new palliative and curative treatments for the disease is necessary.
El curso es progresivo y fatal. Actualmente, no existe un tratamiento que erradique o prevenga el desarrollo de la enfermedad. La LD es una enfermedad rara que, pese a su baja prevalencia, supone graves consecuencias para los pacientes y sus cuidadores. La primera de ellas es una fosfatasa con especificidad dual, mientras que en el segundo caso se trata de una E3 ubiquitina ligasa.
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