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Progressive myoclonic epilepsies

2014; Lippincott Williams & Wilkins; Volume: 82; Issue: 5 Linguagem: Inglês

10.1212/wnl.0000000000000077

1526-632X

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, G. Avanzini, C. A. Tassinari, Amedeo Bianchi, Federico Zara,

Autoimmune Neurological Disorders and Treatments

Objective: To define the clinical spectrum and etiology of progressive myoclonic epilepsies (PMEs) in Italy using a database developed by the Genetics Commission of the Italian League against Epilepsy. Methods: We collected clinical and laboratory data from patients referred to 25 Italian epilepsy centers regardless of whether a positive causative factor was identified. PMEs of undetermined origins were grouped using 2-step cluster analysis. Results: We collected clinical data from 204 patients, including 77 with a diagnosis of Unverricht-Lundborg disease and 37 with a diagnosis of Lafora body disease; 31 patients had PMEs due to rarer genetic causes, mainly neuronal ceroid lipofuscinoses. Two more patients had celiac disease. Despite extensive investigation, we found no definitive etiology for 57 patients. Cluster analysis indicated that these patients could be grouped into 2 clusters defined by age at disease onset, age at myoclonus onset, previous psychomotor delay, seizure characteristics, photosensitivity, associated signs other than those included in the cardinal definition of PME, and pathologic MRI findings. Conclusions: Information concerning the distribution of different genetic causes of PMEs may provide a framework for an updated diagnostic workup. Phenotypes of the patients with PME of undetermined cause varied widely. The presence of separate clusters suggests that novel forms of PME are yet to be clinically and genetically characterized. IPS= : intermittent photic stimulation; LICE= : Italian League against Epilepsy; MERRF= : myoclonic epilepsy with ragged-red fibers; NCL= : neuronal ceroid lipofuscinosis; PME= : progressive myoclonic epilepsy; PSW= : polyspikes and waves; TC= : tonic-clonic