Autosomal dominant cortical tremor, myoclonus and epilepsy: Many syndromes, one phenotype

Research output: Contribution to journalArticle

Abstract

The association of cortical tremor, myoclonus and epileptic seizures has been reported in many Japanese and European families with different acronyms. We reviewed the familial cases presenting the clinical picture of autosomal dominant cortical tremor, myoclonus and epilepsy and analysed the phenotypic differences between the pedigrees, according to the recent genetic acquisitions. We concluded that BAFME, FAME, FEME, FCTE and ADCME are the same clinical entity even if genetically heterogeneous, with Japanese families linked to 8q24 and Italian ones to 2p11.1-q12. A third locus could also be involved. Further studies should better clarify the electrophysiological features of this condition and identify the underlying molecular defects.

Original languageEnglish
Pages (from-to)211-217
Number of pages7
JournalActa Neurologica Scandinavica
Volume111
Issue number4
DOIs
Publication statusPublished - Apr 2005

Fingerprint

Tremor
Phenotype
Myoclonus
Pedigree
Epilepsy
Epilepsy, Myoclonic, Benign Adult Familial, Type 2

Keywords

  • Cortical tremor
  • Epilepsy
  • Genetics
  • Myoclonus

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

Cite this

Autosomal dominant cortical tremor, myoclonus and epilepsy : Many syndromes, one phenotype. / Striano, Pasquale; Zara, F.; Striano, S.

In: Acta Neurologica Scandinavica, Vol. 111, No. 4, 04.2005, p. 211-217.

Research output: Contribution to journalArticle

@article{7489381af84543aabcc678196cb26845,
title = "Autosomal dominant cortical tremor, myoclonus and epilepsy: Many syndromes, one phenotype",
abstract = "The association of cortical tremor, myoclonus and epileptic seizures has been reported in many Japanese and European families with different acronyms. We reviewed the familial cases presenting the clinical picture of autosomal dominant cortical tremor, myoclonus and epilepsy and analysed the phenotypic differences between the pedigrees, according to the recent genetic acquisitions. We concluded that BAFME, FAME, FEME, FCTE and ADCME are the same clinical entity even if genetically heterogeneous, with Japanese families linked to 8q24 and Italian ones to 2p11.1-q12. A third locus could also be involved. Further studies should better clarify the electrophysiological features of this condition and identify the underlying molecular defects.",
keywords = "Cortical tremor, Epilepsy, Genetics, Myoclonus",
author = "Pasquale Striano and F. Zara and S. Striano",
year = "2005",
month = "4",
doi = "10.1111/j.1600-0404.2005.00385.x",
language = "English",
volume = "111",
pages = "211--217",
journal = "Acta Neurologica Scandinavica",
issn = "0001-6314",
publisher = "Wiley Blackwell",
number = "4",

}

TY - JOUR

T1 - Autosomal dominant cortical tremor, myoclonus and epilepsy

T2 - Many syndromes, one phenotype

AU - Striano, Pasquale

AU - Zara, F.

AU - Striano, S.

PY - 2005/4

Y1 - 2005/4

N2 - The association of cortical tremor, myoclonus and epileptic seizures has been reported in many Japanese and European families with different acronyms. We reviewed the familial cases presenting the clinical picture of autosomal dominant cortical tremor, myoclonus and epilepsy and analysed the phenotypic differences between the pedigrees, according to the recent genetic acquisitions. We concluded that BAFME, FAME, FEME, FCTE and ADCME are the same clinical entity even if genetically heterogeneous, with Japanese families linked to 8q24 and Italian ones to 2p11.1-q12. A third locus could also be involved. Further studies should better clarify the electrophysiological features of this condition and identify the underlying molecular defects.

AB - The association of cortical tremor, myoclonus and epileptic seizures has been reported in many Japanese and European families with different acronyms. We reviewed the familial cases presenting the clinical picture of autosomal dominant cortical tremor, myoclonus and epilepsy and analysed the phenotypic differences between the pedigrees, according to the recent genetic acquisitions. We concluded that BAFME, FAME, FEME, FCTE and ADCME are the same clinical entity even if genetically heterogeneous, with Japanese families linked to 8q24 and Italian ones to 2p11.1-q12. A third locus could also be involved. Further studies should better clarify the electrophysiological features of this condition and identify the underlying molecular defects.

KW - Cortical tremor

KW - Epilepsy

KW - Genetics

KW - Myoclonus

UR - http://www.scopus.com/inward/record.url?scp=15044365677&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=15044365677&partnerID=8YFLogxK

U2 - 10.1111/j.1600-0404.2005.00385.x

DO - 10.1111/j.1600-0404.2005.00385.x

M3 - Article

C2 - 15740570

AN - SCOPUS:15044365677

VL - 111

SP - 211

EP - 217

JO - Acta Neurologica Scandinavica

JF - Acta Neurologica Scandinavica

SN - 0001-6314

IS - 4

ER -