RESUMEN
We describe two couples of sibs from a southern Italian family affected by epilepsy, myoclonus, mental retardation and slight ataxia. Onset was between 4 and 12 years and the course slowly progressive. The clinical picture suggested the diagnosis of Unverricht-Lundborg disease. Molecular study excluded linkage to EPM1. Other possible causes of progressive myoclonus epilepsy were also excluded.
Asunto(s)
Ataxia/complicaciones , Discapacidad Intelectual/complicaciones , Epilepsias Mioclónicas Progresivas/complicaciones , Adulto , Edad de Inicio , Ataxia/genética , Ataxia/patología , Análisis Mutacional de ADN , ADN Mitocondrial/genética , Salud de la Familia , Femenino , Humanos , Discapacidad Intelectual/genética , Discapacidad Intelectual/patología , Imagen por Resonancia Magnética/métodos , Epilepsias Mioclónicas Progresivas/genética , Epilepsias Mioclónicas Progresivas/patología , Mutación PuntualRESUMEN
PURPOSE: Univerricht-Lundborg disease (ULD), with its major symptom of action myoclonus, is supposed to be very rare in the Netherlands and western Europe. We hypothesized that the syndrome may be underdiagnosed in patients with myoclonus epilepsy. METHODS: Mutation analysis of the cystatin B gene was performed in 21 cases with uncontrolled myoclonus. RESULTS: Seven of the 21 evaluated cases carried mutations in the cystatin B gene. Diagnosis of ULD was made with a mean delay of 20 years from symptom onset. CONCLUSIONS: This study from a country without previous reports of ULD suggests that underdiagnosis of the syndrome is likely. These findings also indicate that persons with juvenile-onset myoclonus epilepsy with action myoclonus should be analyzed for ULD.