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

ABSTRACT Aims. 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...

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Bibliographic Details
Published in:Epileptic disorders 2019-08, Vol.21 (4), p.359-365
Main Authors: Berrechid, Amina Gargouri, Bendjebara, Mouna, Bouteiller, Delphine, Nasri, Amina, Peuvion, Jean‐Noël, Marie, Yannick, Baulac, Stéphanie, Mrabet, Saloua, Ribierre, Théo, Cazeneuve, Cecile, Imenkacem, Leguern, Eric, Gouider, Riadh
Format: Article
Language:English
Subjects:
Adolescent
Adult
Cathepsin B
cystatin B
Cystatin C
Deamination
Epilepsy
Female
Genes
Genetic screening
Genetic Testing - methods
Genotype & phenotype
Humans
juvenile myoclonic epilepsy
Male
Mimicry
Mutation - genetics
Myoclonic Epilepsies, Progressive - genetics
Myoclonic Epilepsy, Juvenile - genetics
Myoclonus
Phenotype
Phenotypes
Transcription
Unverricht-Lundborg Syndrome - genetics
Unverricht‐Lundborg disease
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Summary:ABSTRACT Aims. 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. Methods. 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. Results. 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. Conclusion. 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.
ISSN:1294-9361
1950-6945
DOI:10.1684/epd.2019.1078