title: Unverricht-Lundborg disease.
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.
authors: Epilepsy Unit, Hôpital Gui-de-Chauliac, Research Unit 'Movement Disorders' (URMA), Department of Neurobiology, Institute of Functional Genomics, Montpellier, France.
authors: Arielle
authors: A
authors: Crespel
authors: Magna Graecia University of Catanzaro, Department of Medical and Surgical Sciences, Italy.
authors: Edoardo
authors: E
authors: Ferlazzo
authors: Neurophysiopathology and Epilepsy Centre IRCCS Foundation C. Besta Neurological Institute, Milan, Italy.
authors: Silvana
authors: S
authors: Franceschetti
authors: Hopital Henri-Gastaut, Marseille, France.
authors: Pierre
authors: P
authors: Genton
authors: Department of Neurology, EPS Charles-Nicolle, Tunis, Tunisia.
authors: Riadh
authors: R
authors: Gouider
authors: University of Eastern Finland, Kuopio, Finland.
authors: Reetta
authors: R
authors: Kälviäinen
authors: Department of Neurosurgery, University of Helsinki and Helsinki University Hospital, Finland.
authors: Miikka
authors: M
authors: Korja
authors: Department of Pathology, Boston Children's Hospital, Boston, USA.
authors: Maria K
authors: MK
authors: Lehtinen
authors: University of Eastern Finland, Kuopio, Finland.
authors: Esa
authors: E
authors: Mervaala
authors: San Raffaele Hospital, Milan, Italy.
authors: Michele
authors: M
authors: Simonato
authors: Department of Pharmacology, University of Tartu, Tartu, Estonia.
authors: Annika
authors: A
authors: Vaarmann
mesh_terms: D000818:Animals; D055313:Cystatin B / Q000235:genetics*; D006801:Humans; D020194:Unverricht-Lundborg Syndrome / Q000235:genetics*
chemical_list: D055313:Cystatin B
keywords: EPM1; Unverricht-Lundborg; progressive myoclonus epilepsy