Description of a family with a novel progressive myoclonus epilepsy and cognitive impairment

Mov Disord. 2009 May 15;24(7):1016-22. doi: 10.1002/mds.22489.

Abstract

We report a family of Algerian origin presenting an unusual, severe form of progressive myoclonus epilepsy characterized by myoclonus, generalized tonic-clonic seizures and moderate to severe cognitive impairment, with probable autosomal recessive inheritance. Disease onset was between 6 and 16 years of age. The diagnosis of Unverricht-Lundborg disease and all other known causes of progressive myoclonus epilepsies were excluded by specific laboratory tests and molecular analysis.

MeSH terms

  • Adolescent
  • Adult
  • Algeria
  • Cognition Disorders / complications*
  • Cognition Disorders / genetics*
  • Electroencephalography / methods
  • Electromyography
  • Evoked Potentials, Visual
  • Family Health*
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Myoclonic Epilepsies, Progressive / complications*
  • Myoclonic Epilepsies, Progressive / genetics*
  • Neural Conduction / physiology
  • Neurologic Examination
  • Neuropsychological Tests
  • Young Adult