© 1995 Oxford University Press
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The gene for progressive myoclonus epilepsy of the Lafora type maps to chromosome 6q
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
*To whom correspondence should be addressed
Received May 22, 1995; Accepted June 23, 1995
Progressive myoclonus epilepsy of the Lafora type (Lafora's disease) is an autosomal recessive disease characterized by epilepsy, myoclonus, dementia, and periodic acid-Schiff-positive intracellular inclusion bodies. The inclusion deposits consist of branched polysaccharides (polyglucosans) but the responsible biochemical defect has not been identified. Onset is during late childhood or adolescence and the disease leads to a fatal outcome within a decade of first symptoms. We studied nine families in which Lafora’s disease had been proven by biopsy in at least one member. In order to locate the responsible gene, we screened the human genome with microsatellite markers spaced an average of 13 cM. We used linkage analysis in all nine families and homozygosity mapping in four consanguineous families to define the Lafora‘s disease gene region. Two point linkage analysis resulted in a total peak lod score of 10.54 for marker D6S311. Six additional chromosome 6q23–25 microsatellites yielded lod scores ranging from 5.92 to 9.60 at 
m =f= 0. An extended pedigree with five affected members independently proved linkage with peak lod scores over 3.8 at m=f = 0 for D6S292, D6S403, and D6S311. The multipoint one-lod-unit support interval covered a 2.5 cM region surrounding D6S403. Homozygosity mapping defined a 17 cM region in chromosome 6q23–25 flanked by D6S292 and D6S420 that contains the Lafora’s disease gene.
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