Journal of Neurology

, Volume 252, Issue 8, pp 897–900

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
ORIGINAL COMMUNICATION

DOI: 10.1007/s00415-005-0766-3

Cite this article as:
Coppola, G., Criscuolo, C., De Michele, G. et al. J Neurol (2005) 252: 897. doi:10.1007/s00415-005-0766-3
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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.

Key words

epilepsy myoclonus ataxia mental retardation 

Copyright information

© Steinkopff-Verlag 2005

Authors and Affiliations

  • Giovanni Coppola
    • 1
  • Chiara Criscuolo
    • 1
  • Giuseppe De Michele
    • 1
  • Salvatore Striano
    • 1
  • Fabrizio Barbieri
    • 1
  • Pasquale Striano
    • 1
  • Anna Perretti
    • 1
  • Lucio Santoro
    • 1
  • Vincenzo Brescia Morra
    • 1
  • Francesco Saccà
    • 1
  • Valentina Scarano
    • 1
  • Adamo P. D’Adamo
    • 2
  • Sandro Banfi
    • 2
  • Paolo Gasparini
    • 2
  • Filippo M. Santorelli
    • 3
  • Anna E. Lehesjoki
    • 4
  • Alessandro Filla
    • 1
  1. 1.Dipartimento di Scienze NeurologicheUniversità degli Studi di Napoli Federico IINapoliItaly
  2. 2.Telethon Institute of Genetics and MedicineNaplesItaly
  3. 3.La Sapienza UniversityRomeItaly
  4. 4.Dept. of Medical GeneticsUniversity of HelsinkiFinland

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