Epidemiology and natural history of multiple sclerosis: New insights

Current Opinion in Neurology

Volumn 19, Issue 3, 2006, Pages 248-254

  Kantarci, Orhun ^a   Wingerchuk, Dean ^b  

^a MAYO CLINIC   (United States)

^b MAYO CLINIC   (United States)

Author keywords

Environmental factors; Epidemiology; Genetic factors; Longitudinal studies; Multiple sclerosis; Natural history

Indexed keywords

APOLIPOPROTEIN E;

ALLELE; DISEASE ACTIVITY; ENVIRONMENTAL FACTOR; EPSTEIN BARR VIRUS; GENETIC ASSOCIATION; GENETIC EPIDEMIOLOGY; GENETIC SUSCEPTIBILITY; HUMAN; LONGITUDINAL STUDY; MULTIPLE SCLEROSIS; PREVALENCE; REVIEW; VIRUS EXPRESSION; VITAMIN D DEFICIENCY;

DISEASE SUSCEPTIBILITY; ENVIRONMENT; HLA-DR ANTIGENS; HUMANS; MULTIPLE SCLEROSIS; RISK FACTORS;

EID: 33744490350     PISSN: 13507540     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.wco.0000227033.47458.82     Document Type: Review

References (83)

1. Lucchinetti CF, Parisi J, Bruck W. The pathology of multiple sclerosis. Neurol Clin 2005; 23:77-105. This is an excellent and timely review of pathological spectrum of IIDDs of the central nervous system and particularly MS.
2. McDonald WI, Compston A, Edan G, et al. Recommended diagnostic criteria for multiple sclerosis: guidelines from the International Panel on the diagnosis of multiple sclerosis. Ann Neurol 2001; 50:121-127.
3. Mayr WT, Pittock SJ, McClelland RL, et al. Incidence and prevalence of multiple sclerosis in Olmsted County, Minnesota, 1985-2000. Neurology 2003; 61:1373-1377.
4. Kantarci OH, Weinshenker BG. Natural history of multiple sclerosis. Neurol Clin 2005; 23:17-38.
5. Whetten-Goldstein K, Sloan FA, Goldstein LB, Kulas ED. A comprehensive assessment of the cost of multiple sclerosis in the United States. Mult Scler 1998; 4:419-425.
6. Group TIMSS. Interferon beta-1b is effective in relapsing-remitting multiple sclerosis. I. Clinical results of a multicenter, randomized, double-blind, placebo-controlled trial. Neurology 1993; 43:655-661.
7. Johnson KP, Brooks BR, Cohen JA, et al. Copolymer 1 reduces relapse rate and improves disability in relapsing-remitting multiple sclerosis: results of a phase III multicenter, double-blind placebo-controlled trial. The Copolymer 1 Multiple Sclerosis Study Group. Neurology 1995; 45:1268-1276.
8. Hartung HP, Gonsette R, Konig N, et al. Mitoxantrone in progressive multiple sclerosis: a placebo-controlled, double-blind, randomised, multicentre trial. Lancet 2002; 360:2018-2025.
9. Oksenberg JR, Barcellos LF. The complex genetic aetiology of multiple sclerosis. J Neurovirol 2000; 6 (Suppl 2):S10-S14.
10. Ebers GC, Sadovnick AD, Risch NJ. A genetic basis for familial aggregation in multiple sclerosis. Canadian Collaborative Study Group. Nature 1995; 377:150-151.
11. Weinshenker BG. Epidemiology of multiple sclerosis. Neurol Clin 1996; 14:291-308.
12. Ebers GC. A twin consensus in MS. Mult Scler 2005; 11:497-499. This is a comprehensive review of the contribution of twin studies in understanding genetic susceptibility to MS.
13. Kantarci OH, de Andrade M, Weinshenker BG, et al. Identifying disease modifying genes in multiple sclerosis. J Neuroimmunol 2002; 123:144-159.
14. Weiss KM, Terwilliger JD. How many diseases does it take to map a gene with SNPs? Nat Genet 2000; 26:151-157.
15. GAMES, Transatlantic Multiple Sclerosis Genetics Cooperative. A meta-analysis of whole genome linkage screens in multiple sclerosis. J Neuroimmunol 2003; 143:39-46.
16. Sawcer S, Compston A. The genetic analysis of multiple sclerosis in Europeans: concepts and design. J Neuroimmunol 2003; 143:13-16.
17. Consortium IMSG. A high-density screen for linkage in multiple sclerosis. Am J Hum Genet 2005; 77:454-467. This is a large international linkage effort confirming and strengthened the association with the HLA locus.
18. Oksenberg JR, Barcellos LF, Cree BA, et al. Mapping multiple sclerosis susceptibility to the HLA-DR locus in African Americans. Am J Human Gen 2004; 74:160-167.
19. Lincoln MR, Montpetit A, Cader MZ, et al. A predominant role for the HLA class II region in the association of the MHC region in multiple sclerosis. Nature Genet 2005; 37:1108-1112. This study confirms that HLA locus association is with HLA-DRB1 rather than the DQ allele.
20. Reich D, Patterson N, De Jager PL, et al. A whole-genome admixture scan finds a candidate locus for multiple sclerosis susceptibility. Nat Genet 2005; 37:1113-1118. This is the first association study proving the power of utilizing the greater haplotypic diversity and distinct patterns of linkage disequilibrium in patients of African descent in identification of a locus other than HLA in MS.
21. Goris A, Heggarty S, Marrosu MG, et al. Linkage disequilibrium analysis of chromosome 12q14-15 in multiple sclerosis: delineation of a 118-kb interval around interferon-gamma (IFNG) that is involved in male versus female differential susceptibility. Genes Immun 2002; 3:470-476.
22. Reboul J, Mertens C, Levillayer F, et al. Cytokines in genetic susceptibility to multiple sclerosis: a candidate gene approach. French Multiple Sclerosis Genetics Group. J Neuroimmunol 2000; 102:107-112.
23. Vandenbroeck K, Cunningham S, Goris A, et al. Polymorphisms in the interferon-gamma/interleukin-26 gene region contribute to sex bias in susceptibility to rheumatoid arthritis. Arthr Rheum 2003; 48:2773-2778.
24. Kantarci OH, Goris A, Hebrink DD, et al. IFNG polymorphisms are associated with gender differences in susceptibility to multiple sclerosis. Genes Immun 2005; 6:153-161. This study uses tight linkage disequilibrium mapping to show that the association of interferon-γ polymorphisms with MS is gender-dependent.
25. Dai Y, Masterman T, Huang WX, et al. Analysis of an interferon-gamma gene dinucleotide-repeat polymorphism in Nordic multiple sclerosis patients. Mult Scler 2001; 7:157-163.
26. Goris A, Epplen C, Fiten P, et al. Analysis of an IFN-gamma gene (IFNG) polymorphism in multiple sclerosis in Europe: effect of population structure on association with disease. J Interferon Cytokine Res 1999; 19:1037-1046.
27. Schrijver HM, Hooper-van Veen T, van Beizen MJ, et al. Polymorphisms in the genes encoding interferon-gamma and interferon-gamma receptors in multiple sclerosis. Eur J Immunogenet 2004; 31:133-140.
28. Bergkvist M, Olsson M, Sandberg-Wollheim M. No evidence for genetic linkage between development of multiple sclerosis and components of the IFN system and the JAK-STAT pathway. Mult Scler 2004; 10:87-88.
29. Gee JR, Keller JN. Astrocytes: regulation of brain homeostasis via apolipoprotein E. Int J Biochem Cell Biol 2005; 37:1145-1150.
30. Laskowitz DT, Horsburgh K, Roses AD. Apolipoprotein E and the CNS response to injury. J Cereb Blood Flow Metab 1998; 18:465-471.
31. Enzinger C, Ropele S, Strasser-Fuchs S, et al. Lower levels of N-acetylaspartate in multiple sclerosis patients with the apolipoprotein E epsilon4 allele. Arch Neurol 2003; 60:65-70.
32. Schmidt S, Barcellos LF, DeSombre K, et al. Association of polymorphisms in the apolipoprotein E region with susceptibility to and progression of multiple sclerosis. Am J Human Gen 2002; 70:708-717.
33. Kantarci OH, Hebrink DD, Achenbach SJ, et al. Association of APOE polymorphisms with disease severity in MS is limited to women. Neurology 2004; 62:811-814.
34. Cocco E, Sotgiu A, Costa G, et al. HLA-DR,DQ and APOE genotypes and gender influence in Sardinian primary progressive MS. Neurology 2005; 64:564-566.
35. Savettieri G, Messina D, Andreoli V, et al. Gender-related effect of clinical and genetic variables on the cognitive impairment in multiple sclerosis. J Neurol 2004; 251:1208-1214.
36. Marrie RA. Environmental risk factors in multiple sclerosis aetiology. Lancet Neurol 2004; 3:709-718.
37. Coo H, Aronson KJ. A systematic review of several potential non-genetic risk factors for multiple sclerosis. Neuroepidemiology 2004; 23:1-12.
38. Sadovnick AD, Yee IM, Ebers GC. Canadian Collaborative Study G. Multiple sclerosis and birth order: a longitudinal cohort study. Lancet Neurol 2005; 4:611-617.
39. Geeraedts F, Wilczak N, van Binnendijk R, De Keyser J. Search for morbillivirus proteins in multiple sclerosis brain tissue. Neuroreport 2004; 15:27-32.
40. Wagner HJ, Munger KL, Ascherio A. Plasma viral load of Epstein-Barr virus and risk of multiple sclerosis. Eur J Neurol 2004; 11:833-834.
41. Levin LI, Munger KL, Rubertone MV, et al. Temporal relationship between elevation of epstein-barr virus antibody titers and initial onset of neurological symptoms in multiple sclerosis. JAMA 2005; 293:2496-2500. This study suggests that the increased antibody response to Epstein-Barr virus may be an early event in MS rather than a consequence of it.
42. Munger KL, Zhang SM, O'Reilly E, et al. Vitamin D intake and incidence of multiple sclerosis. Neurology 2004; 62:60-65. This study suggested vitamin D supplementation may protect against MS.
43. Soilu-Hanninen M, Airas L, Mononen I, et al. 25-Hydroxyvitamin D levels in serum at the onset of multiple sclerosis. Mult Scler 2005; 11:266-271. This study shows the presence of lower serum 25-hydroxyvitamin D concentrations in MS patients in the summer months compared to controls, whereas a difference is not seen in winter months.
44. 3) for relapsing-remitting multiple sclerosis. J Neurol Neurosurg Psychiatry 2005; 76:1294-1296. This study demonstrated the safety of calcitriol supplementation in MS.
45. Reis J, Dietemann JL, Warter JM, Poser CM. A case of multiple sclerosis triggered by organic solvents. Neurol Sci 2001; 22:155-158.
46. Riise T, Moen BE, Kyvik KR. Organic solvents and the risk of multiple sclerosis. Epidemiology 2002; 13:718-720.
47. Schiffer RB, McDermott MP, Copley C. A multiple sclerosis cluster associated with a small, north-central Illinois community. Arch Environ Health 2001; 56:389-395.
48. Neuberger JS, Lynch SG, Sutton ML, et al. Prevalence of multiple sclerosis in a residential area bordering an oil refinery. Neurology 2004; 63:1796-1802.
49. Riise T, Nortvedt MW, Ascherio A. Smoking is a risk factor for multiple sclerosis. Neurology 2003; 61:1122-1124.
50. Hernan MA, Jick SS, Logroscino G, et al. Cigarette smoking and the progression of multiple sclerosis. Brain 2005; 128:1461-1465. This study demonstrates that smoking can affect the MS phenotype independent of its effect on susceptibility to MS.
51. Brey RL. Patient page. Cigarette smoking and multiple sclerosis (MS): yet another reason to quit. Neurology 2003; 61:E11-E12.
52. Hawkes CH. Are multiple sclerosis patients risk-takers? OJM 2005; 98:895-911. Speculation meant to provoke thought and argument.
53. Lucchinetti C, Bruck W, Parisi J, et al. Heterogeneity of multiple sclerosis lesions: implications for the pathogenesis of demyelination. Ann Neurol 2000; 47:707-717.
54. Keegan M, Konig F, McClelland R, et al. Relation between humoral pathological changes in multiple sclerosis and response to therapeutic plasma exchange. Lancet 2005; 366:579-582. This study underlines the value of understanding pathological heterogeneity as a tool for guiding treatment decisions in MS.
55. Group CS. Interferon beta-1a for optic neuritis patients at high risk for multiple sclerosis. Am J Ophthalmol 2001; 132:463-471.
56. Beck RW, Trobe JD, Moke PS, et al. High- and low-risk profiles for the development of multiple sclerosis within 10 years after optic neuritis: experience of the optic neuritis treatment trial. Arch Ophthalmol 2003; 121:944-949.
57. Cordonnier C, de Seze J, Breteau G, et al. Prospective study of patients presenting with acute partial transverse myelopathy. J Neurol 2003; 250:1447-1452.
58. Ford B, Tampieri D, Francis G. Long-term follow-up of acute partial transverse myelopathy. Neurology 1992; 42:250-252.
59. Wingerchuk DM. Neuromyelitis optica: current concepts. Front Biosci 2004; 9:834-840.
60. Weinshenker B. Western vs optic-spinal MS: two diseases, one treatment? Neurology 2005; 64:594-595. This is a critical review suggesting that the 'high-risk' syndromes of recurrent optic neuritis, longitudinally extensive transverse myelitis, NMO, and Japanese optic-spinal MS are related as demonstrated by their association the serum autoantibody NMO-IgG.
61. Lennon VA, Wingerchuk DM, Kryzer TJ, et al. A serum autoantibody marker of neuromyelitis optica: distinction from multiple sclerosis. Lancet 2004; 364:2106-2112.
62. Lennon VA, Kryzer TJ, Pittock SJ, et al. IgG marker of optic-spinal multiple sclerosis binds to the aquaporin-4 water channel. J Exp Med 2005; 202:473-477. This study demonstrates the relative specificity of the NMO-IgG.
63. Weinshenker BG, Wingerchuk DM, Vukusic S, et al. NMO-IgG predicts relapse following longitudinally extensive transverse myelitis. Ann Neurol 2006 (in press).
64. Kurtzke JF. Rating neurologic impairment in multiple sclerosis: an expanded disability status scale (EDSS). Neurology 1983; 33:1444-1452.
65. Rudick RA. Clinical outcomes assessment in multiple sclerosis: Part I. Mult Scler 1996; 2:244-246.
66. Fischer JS, Rudick RA, Cutter GR, Reingold SC. The Multiple Sclerosis Functional Composite Measure (MSFC): an integrated approach to MS clinical outcome assessment. National MS Society Clinical Outcomes Assessment Task Force. Mult Scler 1999; 5:244-250.
67. Solari A, Radice D, Manneschi L, et al. The multiple sclerosis functional composite: different practice effects in the three test components. J Neurol Sci 2005; 228:71-74.
68. Miller DM, Rudick RA, Cutter G, et al. Clinical significance of the multiple sclerosis functional composite: relationship to patient-reported quality of life. Arch Neurol 2000; 57:1319-1324.
69. Schwid SR, Goodman AD, Mattson DH, et al. The measurement of ambulatory impairment in multiple sclerosis. Neurology 1997; 49:1419-1424.
70. Goodkin DE, Hertsgaard D, Seminary J. Upper extremity function in multiple sclerosis: improving assessment sensitivity with box-and-block and nine-hole peg tests. Arch Phys Med Rehab 1988; 69:850-854.
71. Rao SM, Leo GJ, Haughton VM, et al. Correlation of magnetic resonance imaging with neuropsychological testing in multiple sclerosis. Neurology 1989; 39:161-166.
72. Achiron A, Polliack M, Rao SM, et al. Cognitive patterns and progression in multiple sclerosis: construction and validation of percentile curves. J Neurol Neurosurg Psychiatry 2005; 76:744-749. This study highlights the importance of including cognitive dysfunction as part of the assessment of MS-related disability
73. Deloire MS, Salort E, Bonnet M, et al. Cognitive impairment as marker of diffuse brain abnormalities in early relapsing remitting multiple sclerosis. J Neurol Neurosurg Psychiatry 2005; 76:519-526. This study highlights the importance of including cognitive dysfunction as part of the assessment of MS-related disability
74. Roxburgh RHSR, Seaman SR, Mastermann T, et al. Multiple Sclerosis Severity Score. Using disaibility and disease duration to rate disease severity. Neurology 2005; 64:1144-1151. The large sample size of the study likely negates most of the ascertainment problems associated with its non-population-based nature.
75. Weinshenker BG, Bass B, Rice GPA, et al. The natural history of multiple sclerosis: a geographically based study. 1. Clinical course and disability. Brain 1989; 112:133-146.
76. Weinshenker BG, Bass B, Rice GP, et al. The natural history of multiple sclerosis: a geographically based study. 2. Predictive value of the early clinical course. Brain 1989; 112:1419-1428.
77. Kantarci O, Siva A, Eraksoy M, et al. Survival and predictors of disability in Turkish MS patients. Turkish Multiple Sclerosis Study Group (TUMSSG) Neurology 1998; 51:765-772.
78. Pittock SJ, McClelland RL, Mayr WT, et al. Clinical implications of benign multiple sclerosis: a 20-year population-based follow-up study. Ann Neurol 2004; 56:303-306.
79. Confavreux C, Vukusic S, Adeleine P. Early clinical predictors and progression of irreversible disability in multiple sclerosis: an amnesic process. Brain 2003; 126:770-782.
80. Cottrell DA, Kremenchutzky M, Rice GP, et al. The natural history of multiple sclerosis: a geographically based study. 5. The clinical features and natural history of primary progressive multiple sclerosis. Brain 1999; 122:625-639.
81. Tremlett H, Paty DW, Devonshire V. The natural history of primary progressive MS in British Columbia, Canada. Neurology 2006; 65:1919-1923.
82. Ebers G, Rice G, Wolf C, et al. 16-year long-term follow-up of interferon beta-1b treatment in RRMS. Neurology 2005; 64 (Suppl 1):A385.
83. Noseworthy J, Kappos L, Daumer M. Competing interests in multiple sclerosis research. Lancet 2003; 361:350-351.