Update on pharmacological treatment of progressive myoclonus epilepsies

Edoardo Ferlazzo, Dorothee Kasteleijn Nolst Trenite, Gerrit Jan de Haan, Felix Nitschke, Saija Ahonen, Sara Gasparini, Berge A. Minassian

Research output: Contribution to journalReview article

6 Scopus citations

Abstract

Background: Progressive myoclonus epilepsies (PMEs) are a group of rare inherited diseases featuring a combination of myoclonus, seizures and variable degree of cognitive impairment. Despite extensive investigations, a large number of PMEs remain undiagnosed. In this review, we focus on the current pharmacological approach to PMEs. Methods: References were mainly identified through PubMed search until February 2017 and backtracking of references in pertinent studies. Results: The majority of available data on the efficacy of antiepileptic medications in PMEs are primarily anecdotal or observational, based on individual responses in small series. Valproic acid is the drug of choice, except for PMEs due to mitochondrial diseases. Levetiracetam and clonazepam should be considered as the first add-on treatment. Zonisamide and perampanel represent promising alternatives. Phenobarbital and primidone should be reserved to patients with resistant disabling myoclonus or seizures. Lamotrigine should be used with caution due to its unpredictable effect on myoclonus. Avoidance of drugs known to aggravate myoclonus and seizures, such as carbamazepine and phenytoin, is paramount. Psychiatric (in particular depression) and other comorbidities need to be adequately managed. Although a 3- to 4-drug regimen is often necessary to control seizures and myoclonus, particular care should be paid to avoid excessive pharmacological load and neurotoxic side effects. Target therapy is possible only for a minority of PMEs. Conclusions: Overall, the treatment of PMEs remains symptomatic (i.e. pharmacological treatment of seizures and myoclonus). Further dissection of the genetic background of the different PMEs might hopefully help in the future with individualised treatment options.

Original languageEnglish (US)
Pages (from-to)5662-5666
Number of pages5
JournalCurrent Pharmaceutical Design
Volume23
Issue number37
DOIs
StatePublished - Jan 1 2017

Keywords

  • Antiepileptic drugs
  • Epilepsy
  • Myoclonic jerks
  • Photoparoxysmal response
  • Seizures
  • Therapy

ASJC Scopus subject areas

  • Pharmacology
  • Drug Discovery

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    Ferlazzo, E., Trenite, D. K. N., de Haan, G. J., Nitschke, F., Ahonen, S., Gasparini, S., & Minassian, B. A. (2017). Update on pharmacological treatment of progressive myoclonus epilepsies. Current Pharmaceutical Design, 23(37), 5662-5666. https://doi.org/10.2174/1381612823666170809114654