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 language | English |
|---|---|
| Pages (from-to) | 211-217 |
| Number of pages | 7 |
| Journal | Acta Neurologica Scandinavica |
| Volume | 111 |
| Issue number | 4 |
| DOIs | |
| Publication status | Published - Apr 2005 |
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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 journal › Article
}
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 -