Esclerosis multiple. Diagnostico genetico
Autor: Juan Carlos Zuil Escobar | Publicado:  8/03/2008 | Rehabilitacion y Fisioterapia , Genetica , Neurologia | |
Esclerosis multiple. Diagnostico genetico.4

Son muy diversos los estudios realizados sobre la posible influencia genética en la aparición de la esclerosis múltiple (muchos realizados en zonas de alta prevalencia), pero, como queda constatado, no existe ningún tipo de unanimidad sobre los posibles genes implicados en dicha patología. El único gen con una clara relación en la aparición de la esclerosis múltiple es el 6p21, responsable del complejo mayor de histocompatibilidad (CMH). Respecto al resto de posibles influencias, no existen coincidencias apreciables en los resultados de los distintos estudios presentados. Incluso en grupos poblacionales similares, como pueden ser las poblaciones escandinavas, los resultados obtenidos en los diversos estudios que trabajan con dichas poblaciones, solo muestran como resultado común el anteriormente señalado correspondiente al complejo mayor de histocompatibilidad (CMH).

 

 

Bibliografía

 

1. Pelegrín MA, Gómez MA. Instrumentos de medida de la calidad de vida en esclerosis múltiple. Fisioterapia. 2002 ;24 :56-62.

2. Trapp BD, Peterson J, Ransohoff RM. Axonal transection in the lesions of multiple sclerosis. N Engl J Med. 1998;338:278-85.

3. Ferguson B, Matyszak MK, Esiri MM, Perry VH. Axonal damage in acute multiple sclerosis lesions. Brain 1997;120:393-9.

4. Pelegrín MA, Gómez A. Esclerosis múltiple: estado actual. Fisioterapia. 2001;23:144-53.

5. Saiz, JR. Abordaje fisioterápico de la esclerosis múltiple en atención primaria. Fisioterapia. 2001;23:53-59.

6. Liguori M, Marrosu MG, Pugliatti M, Giuliani F, De Robertis F, Cocco E et al. Age at onset in multiple sclerosis. Neurol Sci 2000;21(2):825-9.

7. Bauer HJ, Hanefeld F, Christen HJ. Multiple sclerosis in early childhood. Lancet. 1990;336:1190.

8. Wallin MT, Page WF, Kurtzke JF. Multiple sclerosis in US veterans of the Vietnam era and later military service: race, sex, and geography. Ann Neurol. 2004;55:65-71.

9. Wallin MT, Page WF, Kurtzke JF (2004) Multiple sclerosis in US veterans of the Vietnam era and later military service: race, sex, and geography. Ann Neurol 55:65-71.

10. Pugliatti M, Sotgiu S, Rosati G. The worldwide prevalence of multiple sclerosis. Clin Neurol Neurosurg.2002 ;104:182-91.

11. Lublin FD and Reingold SC. Guidelines for clinical trials of new therapeutic agents in multiple sclerosis: relations between study investigators, advisors, and sponsors. National Multiple Sclerosis Society (USA) Advisory Committee on Clinical Trials of New Agents in Multiple Sclerosis. Neurology. 1997;48:572-4.

12. Lublin FD and Reingold SC. Guidelines for clinical trials of new therapeutic agents in multiple sclerosis: relations between study investigators, advisors, and sponsors. National Multiple Sclerosis Society (USA) Advisory Committee on Clinical Trials of New Agents in Multiple Sclerosis. Neurology. 1997;48:572-4.

13. Heras V, Vázquez A. Tratamiento de la esclerosis múltiple. JANO. 2003;64:65-68.

14. Weinshenker BG, Issa M, Baskerville J. Long-term and short-term outcome of multiple sclerosis: a 3 year follow-up study. Arch Neurol. 1996;53:353-58.

15. Kurtzke FJ. Rating neurology impairment in multiple sclerosis: an expanded disability status scale(EDSS). Neurology. 1983:33;1444-53.

16. Paty DW, Li DKB, The UBC MS/MRI Study Group and the IGNB Multiple Sclerosis Study Group. Interferon beta-ib is efective in relapsing-remitting multiple sclerosis. MRI analysis results of a multicenter, randomized, double-blind, placebo-controlled trial. Neurology. 1993;43:662-7.

17. Noseworthy JH, Lucchinetti C, Rodriguez M, Weinshenker BG. Multiple sclerosis. N Engl J Med. 2000;343:938-52.

18. Sadovnik AD, Baird PA, Ward RH. Multiple sclerosis: updated risk for relatives. Am J Med Genet. 1988;29:533-41.

19. Sadovnik AD, Amstrong H, Rice GP, Bulman D, Hashimoto L. A population-based study of multiple sclerosis in twins: update. Ann Neurol. 1993;33:281-5.

20. Weinshenker BG. Epidemiology of multiple sclerosis. Neurol clin.1996;14:291-308.

21. Poser CM. Viking voyage: The origin of multiple sclerosis? An essay in medical history. Acta Neural Scand Suppl. 1995:161;23-33.

22. Kurtzke JF. MS epidemiology word wide. One view of current status. Acta Neurol Scand Suppl. 1995:161;23-33.

23. Weinshenker BG. Epidemiology of multiple sclerosis. Neurol clin.1996;14:291-308.

24. Gilden DH Multiple sclerosis exacerbations and infection. Lancet Neurol. 2002: 1;145.

25. Hogancamp WE, Rodríguez M, Weinshenker WG. The epidemiology of multiple sclerosis. Mayo Clin Proc. 1997;72:871-8.

26. Complete secuence and gene map of a human histocompatibility complex. The MHC sequencing consortium. Nature. 1999;401:921-23.

27. Ebers GC, Kukay K, Bulman DE, Sadovnick AD, Rice, G. A full genome reserch in multiple sclerosis. Nat Genet. 1996;13:472-6.

28. Haines JL, Ter-Minassian M, Bazik A, Gusella JF, Kim DJ. A complete genomic screen for multiple sclerosis underscores a role of de mayor histocompatibility complex. Nat Genet. 1996;13:649-71.

29. Sawcer S, Jones HB, Feakes R, Gray J, Smaldon N. A genome screen in multiple sclerosis reveals susceptibility loci on chromosoma 6p21 and 17p22. Nat Genet. 1996;13:464-68.

30. Kuokkanen S, Sundvall M, Terwilliger JD, Tienari PJ, Wikstrom J. A putative vulnerability locus to multiple sclerosis maps to 5p12-14n in a region syntenic to murite locus Eae2. Nat Genet. 1996;13:477-80.

31. Olerup O, Hillert J. HLA class II-associated genetic susceptibility in multiple sclerosis: a critical evaluation. Tissue Antigens. 1991;38:1-15.

32. Godde R, Rohde K, Becker C, Toliat MR, Entz P, Suk A, Muler N, Sindern E, Haupts M, Schimrigk S, Nurnberg P, Epplen JT. Association of the HLA region with multiple sclerosis as confirmed by a genome screen using 10000 SNPs on DNA chips. J Mol Med. 2005;83:486-94.

33. Coraddu F, Lai M, Mancosu C, Cocco E, Sawcer S, Setakis E, Compston A, Marrosu MG. A genome-wide screen for linkage disequilibrium in Sardinian multiple sclerosis. J Neuroimmunol.2003;143:120-3.

34. Martins Silva B, Thorlacius T, Benediktsson K, Pereira C, et al. A whole genome association study in multiple sclerosis patients from north Portugal. J Neuroimmunol. 2003;143:116-9.

35. Harbo HF, Datta P, Oturai A, Ryder LP, et al. Two genome-wide linkage disequilibrium screen in Scandinavian multiple sclerosis patients. J Neuroimmunol. 2003;143:101-6.

36. Laaksonen M, Jonasdottir A, Fossdal R, Ruutiainen J, Sawcer S, et al. A whole genome association study in Finnish multiple sclerosis patients with 3669 markers. J Neuroimmunol. 2003;143:70-3.

37. Weber A, Infante-Duarte C, Sawcer S, Setakis E, Bellmann-Strobl J et al. A genome-wide German screen for linkage disequilibrium in multiple sclerosis. J Neuroimmunol. 2003;143:79-83.

38. Ban M, Sawcer SJ, Heard RN, Bennetts BH, Adams S, Booth D et al. A genome-wide screen for linkage disequilibrium in Australian HLA-DRB1*1501 positive multiple sclerosis patients. J Neuroimmunol. 2003;143:60-4.

39. GAMES; Transatlantic Multiple Sclerosis Genetics Cooperative. A meta-analysis of whole genome linkage screens in multiple sclerosis. J Neuroimmunol. 2003;143:39-46.

40. Sawcer S, Ban M, Maranian M, Yeo TW, Compston A et al. A high-density screen for linkage in multiple sclerosis. Am J Hum Genet. 2005;77:454-67.

41. Brennan M, Gaur A, Pahuja A, Lusis AJ, Reynolds WF. Mice lacking myeloperoxidase are more susceptible to experimental autoimmune encephalomyelitis. J Neuroimmunol. 2001;112:97-105.

42. Neliseen I, Fiten P, Vandenbroeck K, Hillert J, Olsson T, Marrosu MG, Opdenakker G. PECAM1, MPO and PRKAR1A at chromosome 17q21-q24 and susceptibility for multiple sclerosis in Sweden and Sardinia. J Neuroimmunol. 2000;108:153-9.

43. Akesson E, Oturai A, Berg J, Fredrikson S, Andersen O, Harbo HF, Laaksonen M, Myhr KM, Nyland HI, Ryder LP, Sandberg-Wollheim M, Sorensen PS, Spurkland A, Svejgaard A, Holmans P, Compston A, Hillert J, Sawcer S. A genome-wide screen for linkage in Nordic sib-pairs with multiple sclerosis. Genes Immun. 2003;3:279-85.

44. Hensiek AE, Roxburgh R, Smilie B, Coraddu F, Akesson E, Holmans P, Sawcer SJ, Compston DA. Updated results of the United Kingdom linkage-based genome screen in multiple sclerosis. J Neuroimmunol. 2003;143:25-30.

45. Ban M, Stewart GJ, Bennetts BH, Heard R, Simmons R, Maranian M, Compston A, Sawcer SJ. A genome screen for linkage in Australian sibling pairs with multiple sclerosis. Genes Immun. 2002;8:464-9.

46. Giedraitis V, Modin H, Callander M, Landtblom AM, Foosdal R, Stefansson K, Hillert J, Gulcher J. Genome-wide TDT analysis in a localized population with a high prevalence of multiple sclerosis indicates the importance of a region on chromosome 14q. Genes Immun. 2003;4:559-63.

 


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