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

Pasquale Striano, Francesca Madia, Carlo Minetti, Salvatore Striano, Federico Zara

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)1993-1995
Number of pages3
JournalEpilepsia
Volume46
Issue number12
DOIs
Publication statusPublished - Dec 2005

Keywords

  • BAFME
  • Cortical tremor
  • Electrophysiological study
  • Linkage analysis
  • Myoclonus

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

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