The gene for progressive myoclonus epilepsy of the Lafora type maps to chromosome 6q |
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| Authors: | M.Serratosa, Jose V.Delgado-Escueta, Antonio Posada, Ignacio Shih, Susan Drury, Ivo Berciano, Jose Zabala, J.Antonio Antunez, M.Carmen S.Sparkes, Robert |
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| Affiliation: | California Comprehensive Epilepsy Program, West Los Angeles VA Medical Center, Building 500, Room 3405, 11301 Wilshire Boulevard, Los Angeles, California 90073, and UCLA Department of Neurology 710 Westwood Plaza, Los Angeles, California 90024, USA 1Department of Neurology, Hospital Doce de Octubre 28041 Madrid, Spain 2Department of Neurology, University of Michigan Hospitals Ann Arbor, Michigan 48109, USA 3Department of Neurology, Hospital Marqués de Valdecilla Universidad de Cantabria, 39008 Santander 4Neurology Service, Clinica Puerta de Hierro 28035 Madrid 5Neurology Service, Hospital Universitario Virgen de la Arrixaca 30120 Murcia, Spain 6Department of Medicine, Division of Medical Genetics UCLA, Los Angeles, California 90024, USA |
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| Abstract: | Progressive myoclonus epilepsy of the Lafora type (Lafora'sdisease) is an autosomal recessive disease characterized byepilepsy, myoclonus, dementia, and periodic acid-Schiff-positiveintracellular inclusion bodies. The inclusion deposits consistof branched polysaccharides (polyglucosans) but the responsiblebiochemical defect has not been identified. Onset is duringlate childhood or adolescence and the disease leads to a fataloutcome within a decade of first symptoms. We studied nine familiesin which Laforas disease had been proven by biopsy inat least one member. In order to locate the responsible gene,we screened the human genome with microsatellite markers spacedan average of 13 cM. We used linkage analysis in all nine familiesand homozygosity mapping in four consanguineous families todefine the Laforas disease gene region. Two point linkageanalysis resulted in a total peak lod score of 10.54 for markerD6S311. Six additional chromosome 6q2325 microsatellitesyielded lod scores ranging from 5.92 to 9.60 at |
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