Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22

被引:57
作者
Chan, EM
Bulman, DE
Paterson, AD
Turnbull, J
Andermann, E
Andermann, F
Rouleau, GA
Delgado-Escueta, AV
Scherer, SW
Minassian, BA
机构
[1] Hosp Sick Children, Dept Pediat, Div Neurol, Program Genet & Genom Biol, Toronto, ON M5G 1X8, Canada
[2] Univ Toronto, Dept Mol & Med Genet, Toronto, ON M5G 1X8, Canada
[3] Ottawa Gen Hosp, Ottawa Hlth Res Inst, Div Neurol, Ottawa, ON K1H 8L6, Canada
[4] McGill Univ, Montreal Neurol Hosp & Inst, Dept Neurol & Neurosurg, Neurogenet Unit, Montreal, PQ H3A 2B4, Canada
[5] McGill Univ, Montreal Neurol Hosp & Inst, Dept Human Genet, Neurogenet Unit, Montreal, PQ H3A 2B4, Canada
[6] McGill Univ, Montreal Neurol Hosp & Inst, Epilepsy Serv, Montreal, PQ H3A 2B4, Canada
[7] McGill Univ, Dept Paediat, Montreal, PQ H3A 2B4, Canada
[8] McGill Univ, Montreal Gen Hosp, Ctr Hlth, Res Inst,Ctr Res Neurosci, Montreal, PQ H3G 1A4, Canada
[9] Univ Calif Los Angeles, Sch Med, W Los Angeles DVA Med Ctr, Dept Neurol,Comprehens Epilepsy Program, Los Angeles, CA 90073 USA
[10] Univ Calif Los Angeles, Sch Med, W Los Angeles DVA Med Ctr, Brain Res Inst, Los Angeles, CA 90073 USA
关键词
D O I
10.1136/jmg.40.9.671
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Background: Lafora disease is a progressive myoclonus epilepsy with polyglucosan accumulations and a peculiar neurodegeneration with generalised organellar disintegration. It causes severe seizures, leading to dementia and eventually death in early adulthood. Methods: One Lafora disease gene, EPM2A, has been identified on chromosome 6q24. Locus heterogeneity led us to search for a second gene using a genome wide linkage scan in French-Canadian families. Results: We mapped a second Lafora disease locus, EPM2B, to a 2.2 Mb region at 6p22, a region known to code for several proteins, including kinesins. Kinesins are microtubule dependent motor proteins that are involved in transporting cellular components. In neurones, they play a major role in axonal and dendritic transport. Conclusion: Analysis of the present locus in other non-EPM2A families will reveal whether there is further locus heterogeneity. Identification of the disease gene will be of major importance towards our understanding of the pathogenesis of Lafora disease.
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收藏
页码:671 / 675
页数:5
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