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J Neurol Neurosurg Psychiatry 2001;71:813-816 doi:10.1136/jnnp.71.6.813
  • Short report

Leber's hereditary optic neuropathy (LHON/11778) with myoclonus: report of two cases

  1. V Carellia,b,
  2. M L Valentinob,
  3. R Liguorib,
  4. S Melettib,
  5. R Vetrugnob,
  6. F Provinib,
  7. G L Mancardic,
  8. F Bandinic,
  9. A Baruzzib,
  10. P Montagnab
  1. aDoheny Eye Institute, University of Southern California, Los Angeles, California, bIstituto di Clinica Neurologica, Universita' di Bologna, Bologna, Italy, cDepartment of Neurological and Visual Sciences, University of Genoa, Genoa, Italy
  1. D Valerio Carelli, Istituto di Clinica Neurologica, Universita' di Bologna, Via U.Foscolo 7, 40123 Bologna, Italycarelli{at}neuro.unibo.it
  • Received 30 April 2001
  • Revised 28 June 2001
  • Accepted 6 July 2001

Abstract

The previously unrecognised association of myoclonus in two patients with LHON with the 11778/ND4 pathogenic mutation is described. EEG failed to disclose epileptic figures, and a back averaging study suggested that myoclonus was cortical in origin in both patients.

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