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.
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.
Authors: B A Minassian; L Ianzano; M Meloche; E Andermann; G A Rouleau; A V Delgado-Escueta; S W Scherer Journal: Neurology Date: 2000-08-08 Impact factor: 9.910
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Authors: Mitchell A Sullivan; Silvia Nitschke; Evan P Skwara; Peixiang Wang; Xiaochu Zhao; Xiao S Pan; Erin E Chown; Travis Wang; Ami M Perri; Jennifer P Y Lee; Francisco Vilaplana; Berge A Minassian; Felix Nitschke Journal: Cell Rep Date: 2019-04-30 Impact factor: 9.423
Authors: Julie Turnbull; Jean-Marie Girard; Hannes Lohi; Elayne M Chan; Peixiang Wang; Erica Tiberia; Salah Omer; Mushtaq Ahmed; Christopher Bennett; Aruna Chakrabarty; Atul Tyagi; Yan Liu; Nela Pencea; XiaoChu Zhao; Stephen W Scherer; Cameron A Ackerley; Berge A Minassian Journal: Brain Date: 2012-09 Impact factor: 13.501