Chan E M, Omer S, Ahmed M, Bridges L R, Bennett C, Scherer S W, Minassian B A
Program in Genetics and Genomic Biology, Research Institute, The Hospital for Sick Children, Toronto, Canada.
Neurology. 2004 Aug 10;63(3):565-7. doi: 10.1212/01.wnl.0000133215.65836.03.
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.
拉福拉病（LD）是最常见的青少年起病的进行性肌阵挛癫痫。它由EPM2A或EPM2B基因的隐性突变引起。作者描述了一个有三名受累成员的家系，这两个基因均无突变。连锁分析和单倍型分析排除了这两个基因座与该家系病因的关联。因此，推测存在第三个LD基因座。其鉴定将是理解拉福拉小体和拉福拉病产生背后生化途径的关键因素。
