Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation

Giovanni Coppola, Chiara Criscuolo, Giuseppe De Michele, Salvatore Striano, Fabrizio Barbieri, Pasquale Striano, Anna Perretti, Lucio Santoro, Vincenzo Brescia Morra, Francesco Saccà, Valentina Scarano, Adamo P. D'Adamo, Sandro Banfi, Paolo Gasparini, Filippo M. Santorelli, Anna E. Lehesjoki, Alessandro Filla

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)897-900
Number of pages4
JournalJournal of Neurology
Volume252
Issue number8
DOIs
Publication statusPublished - Aug 2005

Keywords

  • Ataxia
  • Epilepsy
  • Mental retardation
  • Myoclonus

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

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