Familial Unverricht-Lundborg disease: a clinical, neurophysiologic, and genetic study

Epilepsia. 1997 Jun;38(6):637-41. doi: 10.1111/j.1528-1157.1997.tb01232.x.


Purpose: Progressive myoclonus epilepsies (PMEs) are a clinically and etiologically heterogeneous group of disorders. The authors report clinical, neurophysiological, and genetic findings of a family from Southern Italy with three members affected with PME.

Methods: All data about familial and personal antecedents, clinical history, neurologic examination, laboratory tests, neurophysiological findings, brain imaging studies, and DNA analysis were examined.

Results: All results were compatible with the features of Unverricht-Lundborg disease and patients were homozygous for the "Finnish" ancestral haplotype.

Conclusions: Work is in progress to identify and characterize the common EPM1 mutation in the Finnish patients. Subsequently, it will be possible to verify the hypothesis on the existence of a common mutation in the Finnish patients and the Italian family under study, or even in other Mediterranean EPM1 families.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Atrophy
  • Brain / diagnostic imaging
  • Brain / pathology
  • Child
  • Chromosomes, Human, Pair 21 / chemistry
  • Chromosomes, Human, Pair 21 / genetics
  • Electroencephalography / statistics & numerical data
  • Epilepsies, Myoclonic / diagnosis
  • Epilepsies, Myoclonic / epidemiology
  • Epilepsies, Myoclonic / genetics*
  • Family*
  • Female
  • Genetic Markers
  • Haplotypes
  • Humans
  • Italy / epidemiology
  • Male
  • Microsatellite Repeats
  • Mutation
  • Pedigree
  • Tomography, X-Ray Computed


  • Genetic Markers