Dansk Epilepsi Selskab

PROGRESSIVE MYOCLONUS EPILEPSIES:
PME's IN THE NEW MILLENNIUM

Venice, San Servolo - 28 April - 1 May 2010

Scientific Advisors
Eva Andermann (Chair) - Montreal Neurological Institute and Hospital, McGill University, Montreal

Giuliano Avanzini - Fondazione IRCCS Istituto Nazionale Neurologico "C.Besta", Milan
Pierre Genton - Hôpital Henri Gastaut - Centre Saint Paul, Marseille

Berge Minassian - The Hospital for Sick Children, Toronto

The progressive myoclonus epilepsies (PME's) comprise a large group of genetically determined disorders characterized by myoclonus, generalized tonic-clonic seizures, cerebellar dysfunction and variable degrees of cognitive impairment. The first comprehensive meeting on PME's was held in Marseille in June 1989 in the pre-molecular era. Since then, several new disorders have been included in the list of PME's, and approximately thirty genes have been identified. Accurate diagnosis of the specific forms of PME, however, remains a challenge. Recent recognition of anti-myoclonic properties of some anticonvulsants may lead to symptomatic improvement in patients with PME's.
This meeting aims to update the definition and classification of the progressive myoclonus epilepsies, and to discuss diagnostic guidelines and genetic counseling. The purpose is to characterize the clinical features and the neuropathological, neuropsychological, neurophysiological and imaging findings for each disease and to correlate them with the specific molecular findings, i.e. genotype-phenotype correlations. It also aims to review the geographic and ethnic distributions of the various PME's, to correlate these with the molecular findings, to outline the mechanisms responsible for epileptogenesis and for neuronal degeneration in the various PME's and to determine common pathophysiological mechanisms, in both patients and animal models. In addition, it will review current symptomatic treatments as well as newer treatments based on specific molecular findings and disease mechanisms.
The event will be of particular interest for neurologists, child neurologists, epileptologists, neurophysiologists, neuroradiologists, (neuro)geneticists, molecular geneticists, and other physicians and basic scientists interested in the PME's.

Venice has been chosen as a most appropriate setting because San Servolo island is the site of the International School of Neurological Sciences - ISVN, in the unique setting of the Venetian lagoon.

28 April: Introductory session
29 April - 1 May: Specialized sessions
Unverricht-Lundborg disease; Lafora body disease; the action myoclonus-renal failure syndrome (AMRF); the neuronal ceroid lipofuscinoses (NCL); PMEs in lysosomal disorders; other PMEs; neurophysiology and neuroimaging in PMEs; common physiopathological mechanisms; differential diagnosis; diagnostic guidelines; treatment guidelines
Round Tables and Video session
Mechanisms of Lafora disease; guidelines for the diagnostic work-up; new perspectives in therapy