Unverricht-Lundborg disease

Arielle Crespel, Edoardo Ferlazzo, Silvana Franceschetti, Pierre Genton, Riadh Gouider, Reetta Kälviäinen, Miikka Korja, Maria K. Lehtinen, Esa Mervaala, Michele Simonato, Annika Vaarmann

Research output: Contribution to journalReview article

Abstract

We first review the clinical presentation and current therapeutic approaches available for treating Unverricht-Lundborg disease (ULD), a progressive myoclonus epilepsy. Next, we describe the identification of disease causing mutations in the gene encoding cystatin B (CSTB). A Cstb-deficient mouse model, which recapitulates the key features of ULD including myoclonic seizures, ataxia, and neuronal loss, was generated to shed light on the mechanisms contributing to disease pathophysiology. Studies with this model have elucidated the diverse biological roles for Cstb from functioning as a protease inhibitor, to regulating glial activation, oxidative stress, serotonergic neurotransmission, and hyperexcitability. These findings set the stage for future studies that may open avenues to improved therapeutic approaches.

Original languageEnglish
Pages (from-to)S28-S37
JournalEpileptic Disorders
Volume18
DOIs
Publication statusPublished - 2016

Keywords

  • EPM1
  • Progressive myoclonus epilepsy
  • Unverricht-Lundborg

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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    Crespel, A., Ferlazzo, E., Franceschetti, S., Genton, P., Gouider, R., Kälviäinen, R., Korja, M., Lehtinen, M. K., Mervaala, E., Simonato, M., & Vaarmann, A. (2016). Unverricht-Lundborg disease. Epileptic Disorders, 18, S28-S37. https://doi.org/10.1684/epd.2016.0841