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. 2019 Aug 1;21(4):359-365.
doi: 10.1684/epd.2019.1078.

Juvenile myoclonic epilepsy phenotype in a family with Unverricht-Lundborg disease

Amina Gargouri Berrechid  1 , Mouna Bendjebara  1 , Delphine Bouteiller  2 , Amina Nasri  1 , Jean-Noël Peuvion  3 , Yannick Marie  2 , Stéphanie Baulac  4 , Saloua Mrabet  1 , Théo Ribierre  4 , Cecile Cazeneuve  3 , Imenkacem  1 , Eric Leguern  5 , Riadh Gouider  1
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Juvenile myoclonic epilepsy phenotype in a family with Unverricht-Lundborg disease

Amina Gargouri Berrechid et al. Epileptic Disord. .

Abstract

Unverricht-Lundborg disease (ULD), an autosomal recessive progressive myoclonus epilepsy, is due to an expansion, or less commonly a mutation, of the cystatin B (CSTB) gene. We report a clinical and molecular study of a Tunisian ULD family with five affected members presenting with a juvenile myoclonic epilepsy (JME)-like phenotype. The expansion of dodecamers was detected by a deamination/PCR assay. The expression profiles of CSTB and other candidate modifying genes, cathepsin B and cystatin C, were established by quantitative RT-PCR, and their respective transcription levels were compared with those from patients with a classic picture of ULD. Three patients had a fixed phenotype mimicking JME after 29 years of evolution. Only a discrete dysarthria was noticed in the two other patients. No correlation was observed between transcription level and severity of disease. Genetic screening should be performed in patients with a JME-like phenotype, when careful examination reveals discrete atypical signs of JME. This particular phenotype may be due to modifying genes and/or gene-environment interactions which require further clarification.

Keywords: Unverricht-Lundborg disease; cathepsin B; cystatin B; cystatin C; juvenile myoclonic epilepsy.

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