Electroclinical and genetic findings in a family with cortical tremor, myoclonus, and epilepsy

Epilepsia. 2005 Dec;46(12):1993-5. doi: 10.1111/j.1528-1167.2005.00346.x.

Abstract

We report a five-generation family showing cortical tremor, myoclonus, and epilepsy, originating from Naples, Italy. Eleven members, aged 24-56 years (mean: 39.2 years), suffered from hand tremor and myoclonus, whereas generalized seizures occurred in six. Electrophysiological study confirmed the presence of cortical reflex myoclonus in all affected members. In addition, giant somatosensory-evoked potential components and enhanced long loop reflex I were found also in three presymptomatic members who manifested hand tremor and myoclonus at upper limbs after 1.5 years of follow-up. Genetic study of the pedigree revealed a significant linkage on chromosome 2p (maximum lod score = 5.9). Further observations are needed to clarify the pathophysiology of this condition.

Publication types

  • Comparative Study

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Chromosome Mapping
  • Chromosomes, Human, Pair 2 / genetics*
  • Comorbidity
  • Electroencephalography / statistics & numerical data
  • Electrophysiology / statistics & numerical data
  • Epilepsies, Myoclonic / diagnosis*
  • Epilepsies, Myoclonic / epidemiology
  • Epilepsies, Myoclonic / ethnology
  • Epilepsies, Myoclonic / genetics*
  • Essential Tremor / diagnosis*
  • Essential Tremor / ethnology
  • Essential Tremor / genetics*
  • Evoked Potentials, Somatosensory
  • Female
  • Follow-Up Studies
  • Genetic Markers
  • Haplotypes / genetics
  • Humans
  • Italy / ethnology
  • Lod Score
  • Male
  • Middle Aged
  • Myoclonus / diagnosis
  • Myoclonus / epidemiology
  • Myoclonus / genetics*
  • Pedigree*
  • Syndrome
  • White People / genetics*

Substances

  • Genetic Markers