TY - JOUR
T1 - Unverricht-Lundborg disease
AU - Crespel, Arielle
AU - Ferlazzo, Edoardo
AU - Franceschetti, Silvana
AU - Genton, Pierre
AU - Gouider, Riadh
AU - Kälviäinen, Reetta
AU - Korja, Miikka
AU - Lehtinen, Maria K.
AU - Mervaala, Esa
AU - Simonato, Michele
AU - Vaarmann, Annika
PY - 2016
Y1 - 2016
N2 - 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.
AB - 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.
KW - EPM1
KW - Progressive myoclonus epilepsy
KW - Unverricht-Lundborg
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U2 - 10.1684/epd.2016.0841
DO - 10.1684/epd.2016.0841
M3 - Review article
AN - SCOPUS:84993945229
VL - 18
SP - S28-S37
JO - Epileptic Disorders
JF - Epileptic Disorders
SN - 1294-9361
ER -