Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2b) on 6p22

E. M. Chan, D. E. Bulman, A. D. Paterson, J. Turnbull, E. Andermann, F. Andermann, G. A. Rouleau, A. V. Delgado-Escueta, S. W. Scherer, B. A. Minassian

Research output: Contribution to journalArticle

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Abstract

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.

Original languageEnglish (US)
Pages (from-to)671-675
Number of pages5
JournalJournal of Medical Genetics
Volume40
Issue number9
StatePublished - Sep 1 2003

Fingerprint

Lafora Disease
Kinesin
Progressive Myoclonic Epilepsy
Genes
Axonal Transport
Microtubules
Dementia
Seizures
Proteins
Chromosomes
Genome
Neurons

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Chan, E. M., Bulman, D. E., Paterson, A. D., Turnbull, J., Andermann, E., Andermann, F., ... Minassian, B. A. (2003). Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2b) on 6p22. Journal of Medical Genetics, 40(9), 671-675.

Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2b) on 6p22. / Chan, E. M.; Bulman, D. E.; Paterson, A. D.; Turnbull, J.; Andermann, E.; Andermann, F.; Rouleau, G. A.; Delgado-Escueta, A. V.; Scherer, S. W.; Minassian, B. A.

In: Journal of Medical Genetics, Vol. 40, No. 9, 01.09.2003, p. 671-675.

Research output: Contribution to journalArticle

Chan, EM, Bulman, DE, Paterson, AD, Turnbull, J, Andermann, E, Andermann, F, Rouleau, GA, Delgado-Escueta, AV, Scherer, SW & Minassian, BA 2003, 'Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2b) on 6p22', Journal of Medical Genetics, vol. 40, no. 9, pp. 671-675.
Chan EM, Bulman DE, Paterson AD, Turnbull J, Andermann E, Andermann F et al. Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2b) on 6p22. Journal of Medical Genetics. 2003 Sep 1;40(9):671-675.
Chan, E. M. ; Bulman, D. E. ; Paterson, A. D. ; Turnbull, J. ; Andermann, E. ; Andermann, F. ; Rouleau, G. A. ; Delgado-Escueta, A. V. ; Scherer, S. W. ; Minassian, B. A. / Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2b) on 6p22. In: Journal of Medical Genetics. 2003 ; Vol. 40, No. 9. pp. 671-675.
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