Vagus nerve stimulation in Lafora body disease

Hajnšek, Sanja; Gadže, Željka Petelin; Borovečki, Fran; Nanković, Sibila; Mrak, Goran; Gotovac, Kristina; Šulentić, Vlatko; Kovačević, Ivana; Kovač, Andreja Bujan

doi:10.1016/j.ebcr.2013.08.002

Cited by 15 publications

(11 citation statements)

References 9 publications

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“…Besides AEDs, vagal nerve stimulation resulted in temporary cessation of generalized tonic-clonic seizures and status epilepticus in two single-case studies 103,104 . The ketogenic diet was also tried in a group of patients with relatively advanced disease but was shown to be ineffective 99 .…”

Section: Current Management Strategiesmentioning

confidence: 99%

Lafora disease — from pathogenesis to treatment strategies

et al. 2018

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Lafora disease is a severe, autosomal recessive, progressive myoclonus epilepsy. The disease usually manifests in previously healthy adolescents, and death commonly occurs within 10 years of symptom onset. Lafora disease is caused by loss-of-function mutations in EPM2A or NHLRC1, which encode laforin and malin, respectively. The absence of either protein results in poorly branched, hyperphosphorylated glycogen, which precipitates, aggregates and accumulates into Lafora bodies. Evidence from Lafora disease genetic mouse models indicates that these intracellular inclusions are a principal driver of neurodegeneration and neurological disease. The integration of current knowledge on the function of laforin-malin as an interacting complex suggests that laforin recruits malin to parts of glycogen molecules where overly long glucose chains are forming, so as to counteract further chain extension. In the absence of either laforin or malin function, long glucose chains in specific glycogen molecules extrude water, form double helices and drive precipitation of those molecules, which over time accumulate into Lafora bodies. In this article, we review the genetic, clinical, pathological and molecular aspects of Lafora disease. We also discuss traditional antiseizure treatments for this condition, as well as exciting therapeutic advances based on the downregulation of brain glycogen synthesis and disease gene replacement.

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Section: Current Management Strategiesmentioning

confidence: 99%

Lafora disease — from pathogenesis to treatment strategies

et al. 2018

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“…Our patient showed improvement in her various types of seizures. This is similar to the previously reported case of the effectiveness of VNS in LBD in which, after one year of follow‐up, the patient demonstrated cessation of the GTCS and status epilepticus episodes, in addition to a significant decrease in myoclonus and moderate reduction in cerebellar symptomatology (Hajnsek et al ., ). One general limitation of the case report that can be noted is that we are dealing with a retrospective single case and the placebo effect cannot be eliminated when assessing the usefulness of VNS in decreasing the frequency of the seizures discussed above.…”

Section: Discussionmentioning

confidence: 99%

“…Patients with LBD may respond at first to anticonvulsants but with time they become pharmaco‐resistant (Andrade et al ., ). To date, only one case is reported in the literature showing the utility of VNS in LBD (Hajnsek et al ., ); herein, we report the second such case.…”

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confidence: 99%

Managing Lafora body disease with vagal nerve stimulation

Mikati

Tabbara

2017

Epileptic Disorders

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A 17‐year‐old female, of consanguineous parents, presented with a history of seizures and cognitive decline since the age of 12 years. She had absence, focal dyscognitive, generalized myoclonic, and generalized tonic‐clonic seizures, all of which were drug resistant. The diagnosis of Lafora body disease was made based on a compatible clinical, EEG, seizure semiology picture and a disease‐causing homozygous mutation in the EPM2A gene. A vagus nerve stimulator (VNS) was inserted and well tolerated with a steady decrease and then stabilization in seizure frequency during the six months following insertion (months 1–6). At follow‐up, at 12 months after VNS insertion, there was a persistent improvement. Seizure frequency during months 7–12, compared to pre‐VNS, was documented as follows: the absence seizures observed by the family had decreased from four episodes per month to 0 per month, the focal dyscognitive seizures from 300 episodes per month to 90 per month, the generalized myoclonic seizures from 90 clusters per month to eight per month, and the generalized tonic‐clonic seizures from 30 episodes per month to 1.5 per month on average. To our knowledge, this is the second case reported in the literature showing efficacy of VNS in the management of seizures in Lafora body disease.

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“…-Estimulación del nervio vago. Se han descrito dos casos de pacientes en los que se ha producido una mejora de los síntomas mediante el implante de un estimulador del nervio vago [62,63]. El mecanismo por el cual esta técnica funciona no está claro, pero debe implicar alteraciones en la modulación de neurotransmisores de la irritabilidad cortical [62].…”

Section: Manejo Y Tratamiento Multidisciplinar En La Enfermedad De Launclassified

Enfermedad de Lafora: revisión de la bibliografía

Desdentado

Espert

Sanz³

et al. 2019

RevNeurol

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Este trabajo no ha sido financiado por ninguna entidad. Conflictos de interésNo existen conflictos de interés Resumen.Introducción. La enfermedad de Lafora (LD) es una forma de epilepsia mioclónica progresiva de herencia autosómica recesiva, de inicio en la infancia tardía o en la adolescencia, y producida por mutaciones de pérdida de función en los genes EPM2A o EPM2B, los cuales codifican para las proteínas laforina y malina, respectivamente.Desarrollo. Los principales síntomas de la enfermedad, que empeoran progresivamente, son: mioclonías, crisis occipitales, crisis tónico-clónicas generalizadas, deterioro cognitivo, síntomas neuropsiquiátricos, y ataxia. El curso es progresivo y fatal. Patológicamente, la LD se caracteriza por la presencia de depósitos de poliglucosanos llamados cuerpos de Lafora (LBs, del inglés Lafora bodies) en el cerebro, hígado, músculo, y glándulas sudoríparas. El diagnóstico de LD se realiza mediante hallazgos clínicos, electrofisiológicos, histológicos y genéticos. Actualmente, no existe un tratamiento que erradique o prevenga el desarrollo de la enfermedad. Tradicionalmente, se utilizan fármacos antiepilépticos para el manejo de las mioclonías y las convulsiones, aunque aparecen resistencias a los mismos.Conclusiones. La LD es una enfermedad rara que, pese a su baja prevalencia, supone graves consecuencias para los pacientes y sus cuidadores. Así pues, resulta necesario continuar la investigación para clarificar los mecanismos subyacentes y desarrollar nuevos tratamientos paliativos y curativos de la enfermedad.

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Vagus nerve stimulation in Lafora body disease

Cited by 15 publications

References 9 publications

Lafora disease — from pathogenesis to treatment strategies

Lafora disease — from pathogenesis to treatment strategies

Managing Lafora body disease with vagal nerve stimulation

Enfermedad de Lafora: revisión de la bibliografía

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