LAFORA DISEASE IS NOT LINKED TO THE UNVERRICHT-LUNDBORG LOCUS

Lafora disease and Unverricht-Lundborg disease are two forms of progre ssive myoclonus epilepsies (PME). Recently the gene for Unverricht-Lun dborg disease (EPM1) was mapped to chromosome 21q22.3. Using three hig hly polymorphic DNA markers (D21S212, PFKL, and D21S171) which flank t he EPM1 locus, we performed linkage analysis to investigate whether or not the EPM1 gene is also implicated in Lafora disease. Linkage was e xcluded in three North-African pedigrees each comprising at least two affected individuals. This result suggests that differential diagnosis of Lafora disease and Unverricht-Lundborg disease may be facilitated by molecular genetic analysis. (C) 1995 Wiley-Liss, Inc.