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NEUROLOGY 1992;42:1545
© 1992 American Academy of Neurology

Linkage studies in progressive myoclonus epilepsy

Unverricht-Lundborg and Lafora's diseases A.-E. Lehesjoki, MD, M. Koskiniemi, MD, M. Pandolfo, MD, A. Antonelli, MD, M. Kyllerman, MD, J. Wahlström, MD, A. Nergårdh, MD, M. Burmeister, PhD, P. Sistonen, PhD, R. Norio, MD and A. de la Chapelle, MD

Departments of Medical Genetics (Drs. Lehesjoki and de la Chapelle) and Virology (Dr. Koskiniemi), University of Helsinki, and the Folkhälsan Institute of Genetics (Drs. Lehesjoki and de la Chapelle), Helsinki, Finland; Divisione di Biochimica e Genetica del Sistema Nervoso (Drs. Pandolfo and Antonelli), Istituto Neurologico "C. Besta," Milan, Italy; the Departments of Pediatrics II (Dr. Kyllerman) and Clinical Genetics (Dr. Wahlström), Östra Sjukhuset, Göteborg, Sweden; the Department of Pediatrics (Dr. Nergårdh), Karolinska Sjukhuset, Stockholm, Sweden; Mental Health Research Institute (Dr. Burmeister), the University of Michigan, Ann Arbor, MI; the Finnish Red Cross Blood Transfusion Service (Dr. Sistonen), and the Department of Medical Genetics (Dr. Norio), The Finnish Population and Family Welfare Federation, Helsinki, Finland.

The progressive myoclonus epilepsies (PME) are a heterogeneous group of rare genetic disorders. Unverricht-Lundborg disease and Lafora's disease are two major classic forms of PME. We recently assigned the gene for Unverricht-Lundborg disease (EPM1) to human chromosome 21 band q22.3. We have now refined the localization of EPM1 by linkage analysis between the disease phenotype and nine DNA markers in 13 Finnish families. Loci MX1 and CD18 flank the EPM1 interval, which spans a distance of about 3.5 megabases. In this 20-centimorgan interval, no recombinations were detected between EPM1 and marker loci BCEI, D21S19, 021942, D21S113, 0218154, and PFKL. Within this interval a maximum multipoint lod score of 11.04 was reached at loci D21Sl54-PFKL. In two Swedish families with Unverricht-Lundborg disease no recombinations were detected. In three Italian families with Lafora's disease the linkage results suggested that EPM1 is not the locus for Lafora's disease.

Address correspondence and reprint requests to Dr. Anna-Elina Lehesjoki, Department of Medical Genetics, University of Helsinki, Haartmaninkatu 3, 00290 Helsinki, Finland.

Supported by grants from the Academy of Finland, the Sigrid Juselius Foundation, the Epilepsy Research Foundation, the Emil Aaltonen Foundation, the Finnish Cultural Foundation, and the National Institutes of Health.

Received October 18, 1991. Accepted for publication in final form January 17, 1992.




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