Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation.
|Title||Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation.|
|Publication Type||Journal Article|
|Year of Publication||2005|
|Authors||Coppola, G, Criscuolo C, De Michele G, Striano S, Barbieri F, Striano P, Perretti A, Santoro L, Brescia Morra V, Saccà F, Scarano V, D'Adamo AP, Banfi S, Gasparini P, Santorelli FM, Lehesjoki AE, Filla A|
|Journal||Journal of neurology|
|Date Published||2005 Aug|
|Keywords||Adult, Age of Onset, Ataxia, DNA Mutational Analysis, DNA, Mitochondrial, Family Health, Female, Humans, intellectual disability, Magnetic Resonance Imaging, Myoclonic Epilepsies, Progressive, Point Mutation|
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.
|Alternate Journal||J. Neurol.|