We reviewed the clinical-neurophysiologic characteristics of 53 patients of two families affected by myoclonic tremor, photosensitivity and epilepsy. Eight family members (3 of family A and 5 of family B) presented "tremulous arousals" in their early infancy. The clinical-neurophysiologic phenotypic expression of the disease was extremely homogeneous among members of the two families. Moreover, both families originated from a small geographic region of southern Italy. Strictly from the clinical point of view, we propose the hypothesis of a founder effect at least for a part of the Italian cases of ADCME. This consideration could stimulate to intensify the efforts for further genetic investigations.
Studio comparativo di due famiglie Italiane con ADCME : possibile effetto fondatore? / M.P. Canevini, P. Tinuper, C. Marini, R. Chifari, A. Vignoli, V. Chiesa, P. Striano, F. Bisulli, S. Striano, R. Guerrini, E. Gardella. - In: BOLLETTINO-LEGA ITALIANA CONTRO L'EPILESSIA. - ISSN 0394-560X. - 2008:136-137(2008), pp. 191-192. ((Intervento presentato al 31. convegno Congresso LICE tenutosi a Venezia Mestre nel 2008.
Studio comparativo di due famiglie Italiane con ADCME : possibile effetto fondatore?
M.P. Canevini;A. Vignoli;
2008
Abstract
We reviewed the clinical-neurophysiologic characteristics of 53 patients of two families affected by myoclonic tremor, photosensitivity and epilepsy. Eight family members (3 of family A and 5 of family B) presented "tremulous arousals" in their early infancy. The clinical-neurophysiologic phenotypic expression of the disease was extremely homogeneous among members of the two families. Moreover, both families originated from a small geographic region of southern Italy. Strictly from the clinical point of view, we propose the hypothesis of a founder effect at least for a part of the Italian cases of ADCME. This consideration could stimulate to intensify the efforts for further genetic investigations.
Pubblicazioni consigliate
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
