Adriana Magaudda1, Edoardo Ferlazzo, Vi-Hong Nguyen, Pierre Genton. 1. Center for Diagnosis and Care of Epilepsy, Department of Neurosciences, Anesthesiological and Psychiatric Sciences, University of Messina, Italy. adriana.magaudda@libero.it
Abstract
PURPOSE: To assess the long-term evolution of Unverricht-Lundborg disease (ULD), especially concerning myoclonus, seizures, and EEG characteristics. METHODS: We retrospectively evaluated 20 patients (six women, 14 men; mean age, 37.9 years; range, 26-53 years) with ULD who had been closely followed up since the onset of the disease (mean age, 12.3 years; range, 6-17 years) for an average of 25.6 years (range, 13-41 years). ULD was confirmed by genetic tests in all. We used simplified myoclonus and seizure rating scales. RESULTS: The geographic origin of the patients was Northern Africa in nine, France in two, Italy in six, and mixed European in three. Three patients were severely handicapped, six led fully autonomous lives, and 11 required various degrees of social support. Myoclonus progressed only during the first 5 years of disease. Major seizures occurred in 19. Three patients had a single seizure, and eight became seizure free, whereas six had rare seizures, and two had frequent attacks. Overall, seizures became much less frequent after 10 years of evolution. EEG changes abated during follow-up: background activity remained stable or improved, spontaneous discharges disappeared, and photoparoxysmal responses were abolished in all patients but two. CONCLUSIONS: This study shows that ULD progresses only over a limited period and stabilizes thereafter. This self-limited progression may be the consequence of age-related apoptosis of selected neuronal populations.
PURPOSE: To assess the long-term evolution of Unverricht-Lundborg disease (ULD), especially concerning myoclonus, seizures, and EEG characteristics. METHODS: We retrospectively evaluated 20 patients (six women, 14 men; mean age, 37.9 years; range, 26-53 years) with ULD who had been closely followed up since the onset of the disease (mean age, 12.3 years; range, 6-17 years) for an average of 25.6 years (range, 13-41 years). ULD was confirmed by genetic tests in all. We used simplified myoclonus and seizure rating scales. RESULTS: The geographic origin of the patients was Northern Africa in nine, France in two, Italy in six, and mixed European in three. Three patients were severely handicapped, six led fully autonomous lives, and 11 required various degrees of social support. Myoclonus progressed only during the first 5 years of disease. Major seizures occurred in 19. Three patients had a single seizure, and eight became seizure free, whereas six had rare seizures, and two had frequent attacks. Overall, seizures became much less frequent after 10 years of evolution. EEG changes abated during follow-up: background activity remained stable or improved, spontaneous discharges disappeared, and photoparoxysmal responses were abolished in all patients but two. CONCLUSIONS: This study shows that ULD progresses only over a limited period and stabilizes thereafter. This self-limited progression may be the consequence of age-related apoptosis of selected neuronal populations.
Authors: Silvana Franceschetti; Roberto Michelucci; Laura Canafoglia; Pasquale Striano; Antonio Gambardella; Adriana Magaudda; Paolo Tinuper; Angela La Neve; Edoardo Ferlazzo; Giuseppe Gobbi; Anna Teresa Giallonardo; Giuseppe Capovilla; Elisa Visani; Ferruccio Panzica; Giuliano Avanzini; Carlo Alberto Tassinari; Amedeo Bianchi; Federico Zara Journal: Neurology Date: 2014-01-02 Impact factor: 9.910
Authors: Edoardo Ferlazzo; Dorothee Kasteleijn-Nolst Trenite; Gerrit-Jan de Haan; Felix Felix Nitschke; Saija Ahonen; Sara Gasparini; Berge A Minassian Journal: Curr Pharm Des Date: 2017 Impact factor: 3.116
Authors: Laura Mumoli; Caterina Palleria; Sara Gasparini; Rita Citraro; Angelo Labate; Edoardo Ferlazzo; Antonio Gambardella; Giovambattista De Sarro; Emilio Russo Journal: Drug Des Devel Ther Date: 2015-10-19 Impact factor: 4.162