Clinical, neuropsychological, neurophysiologic, and genetic features of a new Italian pedigree with familial cortical myoclonic tremor with epilepsy

Antonio Suppa, Alfredo Berardelli, Francesco Brancati, Massimo Marianetti, Giuseppe Barrano, Concetta Mina, Antonio Pizzuti, Giulio Sideri

Research output: Contribution to journalArticle

Abstract

We studied the clinical, neuropsychological, neurophysiologic, and genetic features of an Italian family with familial cortical myoclonic tremor with epilepsy (FCMTE). Clinically affected members of the family had limb and voice tremor, seizures, and myoclonus involving the eyelids during blinking. Neuropsychological testing disclosed visuospatial impairment, possibly due to temporal lobe dysfunction. Neurophysiologic findings suggested increased primary motor cortex excitability with normal sensorimotor integration. Linkage analysis excluded the 8q24 locus, where patients shared a common haplotype spanning 14.5 Mb in the pericentromeric region of chromosome 2.

Original languageEnglish
Pages (from-to)1284-1288
Number of pages5
JournalEpilepsia
Volume50
Issue number5
DOIs
Publication statusPublished - May 2009

Fingerprint

Pedigree
Blinking
Myoclonus
Chromosomes, Human, Pair 2
Motor Cortex
Tremor
Temporal Lobe
Haplotypes
Seizures
Epilepsy, Myoclonic, Benign Adult Familial, Type 1

Keywords

  • Cognitive impairment
  • Epilepsy
  • Myoclonus
  • Transcranial magnetic stimulation
  • Tremor

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Cite this

Clinical, neuropsychological, neurophysiologic, and genetic features of a new Italian pedigree with familial cortical myoclonic tremor with epilepsy. / Suppa, Antonio; Berardelli, Alfredo; Brancati, Francesco; Marianetti, Massimo; Barrano, Giuseppe; Mina, Concetta; Pizzuti, Antonio; Sideri, Giulio.

In: Epilepsia, Vol. 50, No. 5, 05.2009, p. 1284-1288.

Research output: Contribution to journalArticle

Suppa, Antonio ; Berardelli, Alfredo ; Brancati, Francesco ; Marianetti, Massimo ; Barrano, Giuseppe ; Mina, Concetta ; Pizzuti, Antonio ; Sideri, Giulio. / Clinical, neuropsychological, neurophysiologic, and genetic features of a new Italian pedigree with familial cortical myoclonic tremor with epilepsy. In: Epilepsia. 2009 ; Vol. 50, No. 5. pp. 1284-1288.
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