The best evidence for progressive myoclonic epilepsy

A pathway to precision therapy

Alessandro Orsini, Angelo Valetto, Veronica Bertini, Mariagrazia Esposito, Niccolò Carli, Berge Arakel Minassian, Alice Bonuccelli, Diego Peroni, Roberto Michelucci, Pasquale Striano

Research output: Contribution to journalReview article

Abstract

Progressive Myoclonus Epilepsies (PMEs) are a group of uncommon clinically and genetically heterogeneous disorders characterised by myoclonus, generalized epilepsy, and neurological deterioration, including dementia and ataxia. PMEs may have infancy, childhood, juvenile or adult onset, but usually present in late childhood or adolescence, at variance from epileptic encephalopathies, which start with polymorphic seizures in early infancy. Neurophysiologic recordings are suited to describe faithfully the time course of the shock-like muscle contractions which characterize myoclonus. A combination of positive and negative myoclonus is typical of PMEs. The gene defects for most PMEs (Unverricht-Lundborg disease, Lafora disease, several forms of neuronal ceroid lipofuscinoses, myoclonus epilepsy with ragged-red fibers [MERRF], and type 1 and 2 sialidoses) have been identified. PMEs are uncommon disorders, difficult to diagnose in the absence of extensive experience. Thus, aetiology is undetermined in many patients, despite the advance in molecular medicine. Treatment of PMEs remains essentially symptomaticof seizures and myoclonus, together with palliative, supportive, and rehabilitative measures. The response to therapy may initially be relatively favourable, afterwards however, seizures may become more frequent, and progressive neurologic decline occurs. The prognosis of a PME depends on the specific disease. The history of PMEs revealed that the international collaboration and sharing experience is the right way to proceed. This emerging picture and biological insights will allow us to find ways to provide the patients with meaningful treatment.

Original languageEnglish (US)
Pages (from-to)247-257
Number of pages11
JournalSeizure
Volume71
DOIs
StatePublished - Oct 1 2019

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Progressive Myoclonic Epilepsy
Myoclonus
Myoclonic Epilepsy
Seizures
Therapeutics
Unverricht-Lundborg Syndrome
Lafora Disease
Neuronal Ceroid-Lipofuscinoses
Molecular Medicine
Generalized Epilepsy
Brain Diseases
Ataxia
Muscle Contraction
Nervous System
Dementia
Shock
History

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Cite this

Orsini, A., Valetto, A., Bertini, V., Esposito, M., Carli, N., Minassian, B. A., ... Striano, P. (2019). The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy. Seizure, 71, 247-257. https://doi.org/10.1016/j.seizure.2019.08.012

The best evidence for progressive myoclonic epilepsy : A pathway to precision therapy. / Orsini, Alessandro; Valetto, Angelo; Bertini, Veronica; Esposito, Mariagrazia; Carli, Niccolò; Minassian, Berge Arakel; Bonuccelli, Alice; Peroni, Diego; Michelucci, Roberto; Striano, Pasquale.

In: Seizure, Vol. 71, 01.10.2019, p. 247-257.

Research output: Contribution to journalReview article

Orsini, A, Valetto, A, Bertini, V, Esposito, M, Carli, N, Minassian, BA, Bonuccelli, A, Peroni, D, Michelucci, R & Striano, P 2019, 'The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy', Seizure, vol. 71, pp. 247-257. https://doi.org/10.1016/j.seizure.2019.08.012
Orsini, Alessandro ; Valetto, Angelo ; Bertini, Veronica ; Esposito, Mariagrazia ; Carli, Niccolò ; Minassian, Berge Arakel ; Bonuccelli, Alice ; Peroni, Diego ; Michelucci, Roberto ; Striano, Pasquale. / The best evidence for progressive myoclonic epilepsy : A pathway to precision therapy. In: Seizure. 2019 ; Vol. 71. pp. 247-257.
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AU - Minassian, Berge Arakel

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