Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation.

TitleAutosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation.
Publication TypeJournal Article
Year of Publication2005
AuthorsCoppola, G, Criscuolo C, De Michele G, Striano S, Barbieri F, Striano P, Perretti A, Santoro L, Brescia Morra V, SaccĂ  F, Scarano V, D'Adamo AP, Banfi S, Gasparini P, Santorelli FM, Lehesjoki AE, Filla A
JournalJournal of neurology
Volume252
Issue8
Pagination897-900
Date Published2005 Aug
ISSN0340-5354
KeywordsAdult, Age of Onset, Ataxia, DNA Mutational Analysis, DNA, Mitochondrial, Family Health, Female, Humans, intellectual disability, Magnetic Resonance Imaging, Myoclonic Epilepsies, Progressive, Point Mutation
Abstract

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.

DOI10.3928/01913913-20090706-05
Alternate JournalJ. Neurol.