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NEUROLOGY 2004;63:565-567
© 2004 American Academy of Neurology
Brief Communications

Progressive myoclonus epilepsy with polyglucosans (Lafora disease)

Evidence for a third locus

E. M. Chan, BSc, S. Omer, MD, M. Ahmed, PhD, L. R. Bridges, MD, C. Bennett, MD, S. W. Scherer, PhD and B. A. Minassian, MD

From the Program in Genetics and Genomic Biology (Drs. Scherer and Minassian, E.M. Chan), Research Institute, The Hospital for Sick Children, Toronto, Canada; Department of Molecular and Medical Genetics (Dr. Scherer, E.M. Chan), University of Toronto, Canada; Department of Neurology (Dr. Omer), Atkinson Morley Wing, St. George’s Hospital, London, UK; Department of Clinical Genetics (Drs. Ahmed and Bennett), St. James’s University Hospital, Leeds, UK; Department of Pathology (Dr. Bridges), Leeds General Infirmary, University of Leeds, UK; and Division of Neurology (Dr. Minassian), Department of Pediatrics, The Hospital for Sick Children and University of Toronto, Canada.

Address correspondence and reprint requests to Dr. Berge A. Minassian, Division of Neurology, Department of Pediatrics, Department of Genetics and Genomic Biology, The Hospital for Sick Children and The University of Toronto, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada; e-mail: bminass{at}sickkids.ca

Lafora disease (LD) is the most common teenage-onset progressive myoclonus epilepsy. It is caused by recessive mutations in the EPM2A or EPM2B genes. The authors describe a family with three affected members with no mutations in either gene. Linkage and haplotype analyses exclude both loci from causative involvement in this family. Therefore, a third LD locus is predicted. Its identification will be a crucial element in the understanding of the biochemical pathway underlying the generation of Lafora bodies and LD.

Received February 9, 2004. Accepted in final form March 16, 2004.




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