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.
| Translated title of the contribution | A comparative study of two Italian families with ADCME: Possible founder effect? |
|---|---|
| Original language | Italian |
| Pages (from-to) | 191-192 |
| Number of pages | 2 |
| Journal | Bollettino - Lega Italiana contro l'Epilessia |
| Issue number | 136-137 |
| Publication status | Published - May 2008 |
ASJC Scopus subject areas
- Clinical Neurology
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Cite this
Canevini, M. P., Tinuper, P., Marini, C., Chifari, R., Vignoli, A., Chiesa, V., Striano, P., Bisulli, F., Striano, S., Guerrini, R., & Gardella, E. (2008). Studio comparativo di due famiglie Italiane con ADCME: Possibile effetto fondatore? Bollettino - Lega Italiana contro l'Epilessia, (136-137), 191-192.