RESUMO
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.
Assuntos
Ataxia/complicações , Deficiência Intelectual/complicações , Epilepsias Mioclônicas Progressivas/complicações , Adulto , Idade de Início , Ataxia/genética , Ataxia/patologia , Análise Mutacional de DNA , DNA Mitocondrial/genética , Saúde da Família , Feminino , Humanos , Deficiência Intelectual/genética , Deficiência Intelectual/patologia , Imageamento por Ressonância Magnética/métodos , Epilepsias Mioclônicas Progressivas/genética , Epilepsias Mioclônicas Progressivas/patologia , Mutação PuntualRESUMO
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.