Late-onset and slow-progressing Lafora disease in four siblings with EPM2B mutation

Epilepsia. 2005 Oct;46(10):1695-7. doi: 10.1111/j.1528-1167.2005.00272.x.

Abstract

We report a family with four brothers affected by Lafora disease (LD). Mean age at onset was 19.5 years (range, 17-21). In all cases, the initial obvious symptoms were diffuse myoclonus and occasional generalized tonic-clonic seizures (GTCSs), followed by cognitive difficulties. Severity of myoclonus, seizure diaries, and neurologic and neuropsychological status were finally evaluated in March 2005. The duration of follow-up was >10 years for three subjects. Daily living activities and social interaction were preserved in all cases and, overall, the progression of the disease was slow. Genetic study revealed the homozygous mutation D146N in the EPM2B gene. We suggest that this mutation may be associated with a less severe LD phenotype.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Age of Onset
  • Carrier Proteins / genetics*
  • Cognition Disorders / diagnosis
  • Cognition Disorders / genetics
  • Cognition Disorders / psychology
  • Disease Progression
  • Electroencephalography
  • Follow-Up Studies
  • Humans
  • Lafora Disease / diagnosis
  • Lafora Disease / genetics*
  • Lafora Disease / psychology
  • Longitudinal Studies
  • Magnetic Resonance Imaging
  • Male
  • Medical Records
  • Mutation / genetics*
  • Neuropsychological Tests
  • Pedigree
  • Phenotype
  • Severity of Illness Index
  • Siblings*
  • Social Adjustment
  • Ubiquitin-Protein Ligases

Substances

  • Carrier Proteins
  • NHLRC1 protein, human
  • Ubiquitin-Protein Ligases