PME of Unverricht-Lundborg type in the Mediterranean region: linkage and linkage disequilibrium confirm the assignment to the EPM1 locus

Anna Elina Lehesjoki, Carlo Alberto Tassinari, Giuliano Avanzini, Roberto Michelucci, Silvana Franceschetti, Antonella Antonelli, Guido Rubboli, Albert de la Chapelle

Research output: Contribution to journalArticle

Abstract

Seven phenotypically homogeneous Mediterranean myoclonus families were studied using DNA markers from the genetically defined EPM1 region on chromosome 21. No recombinations between the disease phenotype and the markers studied were detected. Within the EPM1 region, the highest lod score value of 5.07 (at Θ = 0.00) was reached at locus PFKL. Significant allelic association (P = 0.02) between the disease mutation and PFKL was detected suggesting a founder effect in Mediterranean myoclonus. However, haplotype data using four marker loci residing within 300kb of each other and of EPM1 suggest the occurrence of more than one mutation. The data are compatible with Mediterranean myoclonus being caused by mutations in the EPM1 gene and strengthen the concept that a large subset of progressive myoclonus epilepsies conforms with Unverricht-Lundborg disease and that this subset is an etiologically homogeneous entity.

Original languageEnglish
Pages (from-to)668-674
Number of pages7
JournalHuman Genetics
Volume93
Issue number6
DOIs
Publication statusPublished - Jun 1994

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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