Details

Autor(en) / Beteiligte

• Striano, P.
• Zara, F.
• Striano, S.

Titel

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

Ist Teil von

• Acta neurologica Scandinavica, 2005-04, Vol.111 (4), p.211-217

Ort / Verlag

Oxford, UK: Munksgaard International Publishers

Erscheinungsjahr

2005

Link zum Volltext

Quelle

PBSC : Psychology and Behavioral Sciences Collection - Journals

Beschreibungen/Notizen

• 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.