Distribution of progressive myoclonus epilepsies in Italy; positively diagnosed and unclassified patients
Abstract
Data di Pubblicazione:
2012
Citazione:
Distribution of progressive myoclonus epilepsies in Italy; positively diagnosed and unclassified patients / L. Canafoglia, S. Franceschetti, R. Michelucci, A. Magaudda, G. Rubboli, P. Tinuper, P. Striano, S. Striano, A. Gambardella, A. La Neve, T. Francavilla, E. Ferlazzo, D. Italiano, G. Gobbi, F. Villani, N. Nardocci, T. Granata, P. Veggiotti, D. Pareyson, G. Coppola, G. Uziel, V. Belcastro, F. Bisulli, R. Spreafico, R. Guerrini, M. Viri, C. Zucca, G. Capovilla, A.R. Giovagnoli, M.P. Canevini, S. Binelli, M. Casazza, A.T. Cantisan, A. Filla, M. Pezzella, M. Santucci, A. Parmeggiani, A. Posar, G. De Maria, C. Marini, A. Bianchi, F. Ragona, E. Freri, C. Mariotti, P. Costa. - In: EPILEPSIA. - ISSN 0013-9580. - 53:Suppl. 5(2012 Sep), pp. 240-240. ((Intervento presentato al 10. convegno European Congress on Epileptology tenutosi a London nel 2012.
Abstract:
Purpose: Progressive myoclonus epilepsies (PMEs) result from several
genetic disorders. Few information are available about the prevalence of
different PMEs. In spite of the progress in bio-molecular fields, the causative
disorder remains undiagnosed in a significant fraction of the
patients presenting with a PME phenotype. The aim of this study was collecting
information about the frequency and geographical distribution of
PMEs in Italy.
Method: The Genetic Commission of the Italian League against epilepsy
set up a data-base to include information dealing with PME patients
referred by Italian Epilepsy Centres, including the following information:
geographical origin of the parents, consanguinity, familiarity, age at the
disease and myoclonus onset, general characteristics of the seizures and
myoclonus and associated neurological defects, positive diagnosis, when
reached. Negative results obtained in the different examinations performed
during the diagnostic work-up had to be explicitly reported for
the patients who didn't reach a positive diagnosis of the neurological disorder
underlying the PME phenotype.
Result: We collected 179 patients, including 74 with Unverricht-Lundborg
disease, 33 with Lafora body disease, 25 with PME forms resulting
from more rare genetic causes (neuronal ceroid-lipofuscinosis, action
myoclonus renal syndrome, mitochondrial encephalopathies, other metametabolic
disorders, celiac disease). Forty-seven patients were not classified,
in spite of several investigations. We performed a tentative sub classification
of these patients, based on details of phenotypic presentation (onset
age, presence of relevant cognitive decline, seizure frequency and associated
neurological signs).
Conclusion: This study is expected to support further genetic studies
suitable to detect new diseases giving rise to the PME phenotype.
Tipologia IRIS:
01 - Articolo su periodico
Elenco autori:
L. Canafoglia, S. Franceschetti, R. Michelucci, A. Magaudda, G. Rubboli, P. Tinuper, P. Striano, S. Striano, A. Gambardella, A. La Neve, T. Francavilla, E. Ferlazzo, D. Italiano, G. Gobbi, F. Villani, N. Nardocci, T. Granata, P. Veggiotti, D. Pareyson, G. Coppola, G. Uziel, V. Belcastro, F. Bisulli, R. Spreafico, R. Guerrini, M. Viri, C. Zucca, G. Capovilla, A.R. Giovagnoli, M.P. Canevini, S. Binelli, M. Casazza, A.T. Cantisan, A. Filla, M. Pezzella, M. Santucci, A. Parmeggiani, A. Posar, G. De Maria, C. Marini, A. Bianchi, F. Ragona, E. Freri, C. Mariotti, P. Costa
Link alla scheda completa: