Rate of familial amyotrophic lateral sclerosis: A systematic review and meta-analysis

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 82, Issue 6, 2011, Pages 623-627

  Byrne, Susan ^a,b   Walsh, Cathal ^b   Lynch, Catherine ^a   Bede, Peter ^a,b   Elamin, Marwa ^a,b   Kenna, Kevin ^b   McLaughlin, Russell ^b   Hardiman, Orla ^a,b  

^a BEAUMONT HOSPITAL   (Ireland)

^b TRINITY COLLEGE DUBLIN   (Ireland)

Author keywords

[No Author keywords available]

Indexed keywords

COPPER ZINC SUPEROXIDE DISMUTASE;

AMYOTROPHIC LATERAL SCLEROSIS; DATA ANALYSIS; EUROPE; FAMILIAL AMYOTROPHIC LATERAL SCLEROSIS; GEOGRAPHIC DISTRIBUTION; HUMAN; MEDLINE; MORBIDITY; MUTATION RATE; POPULATION RESEARCH; PRIORITY JOURNAL; PROSPECTIVE STUDY; REGISTER; REVIEW; SYSTEMATIC REVIEW;

AMYOTROPHIC LATERAL SCLEROSIS; HUMANS; MUTATION; SUPEROXIDE DISMUTASE;

EID: 79955774490     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp.2010.224501     Document Type: Review

References (72)

1. Wechsler IS, Sapirstein MR, Stein A. Primary and symptomatic amyotrophic lateral sclerosis: a clinical study of 81 cases. Am J Med Sci 1944;208:70.
2. Kurland L, Mulder D. Epidemiologic investigations of amyotrophic lateral sclerosis. familial aggregation indicative of dominant inheritance Part I. Neurology 1955;5:182-96.
3. Fang F, Kamel F, Lichtenstein P, et al. Familial aggregation of amyotrophic lateral sclerosis. Ann Neurol 2009;66:94-9.
4. Brown R. Amyotrophic lateral sclerosis - insights from genetics. Arch Neurol 1997;54:1246-50.
5. Valdmanis P, Rouleau G. Genetics of familial amyotrophic lateral sclerosis. Neurology 2008;70:144-52.
6. Majoor-Krakauer D, Willems PJ, Hofman A. Genetic epidemiology of amyotrophic lateral sclerosis. Clin Genet 2003;63:83-101. (Pubitemid 36949902)
7. Shaw PJ. Genetic inroads in familial ALS. Nat Genet 2003;29:103-4. (Pubitemid 32952638)
8. Andersen PM, Borasio GD, Dengler R, et al. Good practice in the management of amyotrophic lateral sclerosis: clinical guidelines. An evidence-based review with good practice points. EALSC Working Group. Amyotroph Lateral Scler 2007;8:195-213.
9. Andersen PM, Nilsson P, Keränen ML, et al. Phenotypic heterogeneity in motor neuron disease patients with CuZn-superoxide dismutase mutations in Scandinavia. Brain 1997;120:1723-37. (Pubitemid 27443049)
10. Eisen A, Mezei M, Stewart H, et al. SOD1 gene mutations in ALS patients from British Columbia, Canada: Clinical features, neurophysiology and ethical issues in management. Amyotroph Lateral Scler 2008;9:108-19. (Pubitemid 351584037)
11. Chio A, Traynor BJ, Lombardo F, et al. Prevalence of SOD1 mutations in the Italian ALS population. Neurology 2008;70:533-7. (Pubitemid 351653378)
12. Orwell RW, Habgood JJ, Malaspina A, et al. Clinical characteristics of SOD1 gene mutation in UK families with ALS. J Neurol Sci 1999;169:56-60. (Pubitemid 29502507)
13. Logroscino G, Beghi E, Zoccolella S, et al. Incidence of amyotrophic lateral sclerosis in southern Italy: a population based study. J Neurol Neurosurg Psychiatry 2005;76:1094-8. (Pubitemid 41081283)
14. Chiò A, Mora G, Calvo A, et al. Epidemiology of ALS in Italy. A 10-year prospective population-based study. Neurology 2009;72:725-31.
15. Forbes R, Colville S, Parratt J, et al. The incidence of motor neuron disease in Scotland. J Neurol 2007;254:866-9. (Pubitemid 47222306)
16. Abhinav K, Stanton B, Johnston C, et al. Amyotrophic lateral sclerosis in South-East England: a population-based study. The South-East England register for amyotrophic lateral sclerosis (SEALS Registry). Neuroepidemiology 2007;29:44-8.
17. McGuire V, Longstreth WT, Koepsell T, et al. Incidence of amyotrophic lateral sclerosis in three counties in western Washington State. Neurology 1996;47:571-3. (Pubitemid 26324064)
18. del Aguila MA, Longstreth WT, Koepsell T, et al. Prognosis in amyotrophic lateral sclerosis: a population-based study. Neurology 2003;60:813-19. (Pubitemid 36297366)
19. Cruz DC, Nelson LM, McGuire V, et al. Physical trauma and family history of neurodegenerative diseases in amyotrophic lateral sclerosis: a population-based case-control study. Neuroepidemiology 1999;18:101-10. (Pubitemid 29095758)
20. Vzquez MC, Ketzoian C, Legnani C, et al. Incidence and prevalence of amyotrophic lateral sclerosis in Uruguay: a population-based study. Neuroepidemiology 2008;30:105-11. (Pubitemid 351501625)
21. Norris F, Shepherd R, Denys E, et al. Onset, natural history and outcome in idiopathic adult motor neuron disease. J Neurol Sci 1993;118:48-55. (Pubitemid 23269966)
22. Murphy M, Quinn S, Young J, et al. Increasing incidence of ALS in Canterbury, New Zealand: A 22-year study. Neurology 2008;71:1889-95.
23. Sorenson EJ, Stalker AP, Kurland L, et al. Amyotrophic lateral sclerosis in Olmsted County, Minnesota, 1925 to 1998. Neurology 2002;59:280-2.
24. Mandrioli J, Faglioni P, Merelli E, et al. The epidemiology of ALS in Modena, Italy. Neurology 2003;60:683-9.
25. Turabelidze G, Zhu BP, Schootman M, et al. An epidemiologic investigation of amyotrophic lateral sclerosis in Jefferson County, Missouri, 1998-2002. Neurotoxicology 2008;29:81-6.
26. Hudson AJ, Davenport A, Hader WJ. The incidence of amyotrophic lateral sclerosis in southwestern Ontario, Canada. Neurology 1986;36:1524.
27. Murros K, Fogelholm R. Amyotrophic lateral sclerosis in Middle-Finland: an epidemiological study. Acta Neurol Scand 1983;67:41-7. (Pubitemid 13181983)
28. Forsgren L, Almay B, Holmgren G, et al. Epidemilogy of motor neuron disease in northern Sweden. Acta Neurol Scand 1983;68:20-9. (Pubitemid 13029062)
29. Lopez-Vega JM, Calleja J, Combarros O, et al. Motor neuron disease in Cantabria. Acta Neurol Scand 1988;77:1-5. (Pubitemid 18034185)
30. Giaggheddu M, Puggioni G, Masala C, et al. Epidemiologic study of amyotrophic lateral sclerosis in Sardinia, Italy. Acta Neurol Scand 1983;68:394-404. (Pubitemid 14214460)
31. Argyriou AA, Polychronopoulos P, Papapetropoulos S, et al. Clinical and epidemiological features of motor neuron disease in south-western Greece. Acta Neurol Scand 2005;111:108-13. (Pubitemid 40175333)
32. Alcaz S, Jarwbincki M, Pekmezovic T, et al. Epidemiological and clinical characteristics of ALS in Belgrade, Yugoslavia. Acta Neurol Scand 1996;94:264-8. (Pubitemid 26371001)
33. Fong KY, Yu YL, Chan YW, et al. Motor neuron disease in Hong Kong Chinese: epidemiology and clinical picture. Neuroepidemiology 1996;15:239-45. (Pubitemid 26276086)
34. Hojer-Pedersen E, Christensen PB, Jensen NB. Incidence of prevalence of motor neuron disease in two Danish counties. Neuroepidemiology 1989;8:151-9. (Pubitemid 19108758)
35. Tysnes OB, Vollset SE, Aarli JA. Epidemiology of amyotrophic lateral sclerosis in Hordaland county, western Norway. Acta Neurol Scand 1991;83:280-5.
36. Werneck LC, Bezerra R, Silveira O, et al. A clinical epidemiological study of 251 cases of amyotrophic lateral sclerosis in the south of Brazil. Arq Neuropsiquiatr 2007;65:189-95. (Pubitemid 47015930)
37. Li TM, Alberman E, Swash M. Comparison of sporadic and familial disease amongst 580 cases of motor neuron disease. J Neurol Neurosurg Psychiatry 1988;51:778-84.
38. Kurland L, Mulder D. Epidemiologic investigations of amyotrophic lateral sclerosis. Familial aggregation indicative of dominant inheritance part II. Neurology 1955;5:249-68.
39. Sabatelli M, Madia F, Conte A, et al. Natural history of young-adult amyotrophic lateral sclerosis. Neurology 2008;71:876-81.
40. Murray TJ, Pride S, Haley G. Motor neuron disease in Novia Scotia. Can Med Assoc J 1974;110:814-17.
41. Thjis V, Peeters E, Theys P, et al. Demographic characteristics and prognosis in a Flemish amyotrophic lateral sclerosis population. Acta Neurol Belg 2000;100:84-90.
42. Gubbay S, Kahana E, Zilber N, et al. Amyotrophic lateral sclerosis. A study of its presentation and prognosis. J Neurol 1985;232:295-300. (Pubitemid 15240721)
43. Louwerse ES, Visser CE, Bossuyt PM, et al. Amyotrophic lateral sclerosis: mortality risk during the course of the disease and prognostic factors. J Neurol Sci 1997;152(Suppl 1):10-17.
44. Haverkamp LJ, Appel V, Appel SH. Natural history of amyotrophic lateral sclerosis in a database population: Validation of a scoring system and a model for survival prediction. Brain 1995;3:118.
45. Rosen A. Amyotrophic lateral sclerosis: clinical features and prognosis. Arch Neurol 1978;35:638-42. (Pubitemid 8389954)
46. Ringel SP, Murphy JR, Alderson MK, et al. The natural history of amyotrophic lateral sclerosis. Neurology 1993;43:1316-21.
47. Fang F, Valdimarsdottir U, Bellocco R, et al. Amyotrophic lateral sclerosis in Sweden, 1991-2005. Arch Neurol 2009;66:515-19.
48. Marin B, Gil J, Preux PM, et al. Incidence of amyotrophic lateral sclerosis in the Limousin region of France, 1997-2007. Amyotroph Lateral Scler 2009;10:216-20.
49. Beghi E, Millil A, Micheli A, et al. Incidence of ALS in Lombardy, Italy. Neurology 2007;68:141-5.
50. Zaldivar T, Gutierrez J, Lara G, et al. Reduced frequency of ALS in an ethnically mixed population: A population-based mortality study. Neurology 2009;72:1640-5.
51. Fong GC, Cheng TS, Lam K, et al. An epidemiological study of motor neuron disease in Hong Kong. Amyotroph Lateral Scler Other Motor Neuron Disord 2005;6:164-8. (Pubitemid 41419203)
52. Gil J, Vazquez MC, Ketzoian C, et al. Prognosis of ALS: Comparing data from the Limousin referral centre, France, and a Uruguayan population. Amyotroph Lateral Scler 2009;10:355-60.
53. Nalini A, Thennarasu K, Gourie-Devi M, et al. Clinical characteristics and survival pattern of 1153 patients with amyotrophic lateral sclerosis: Experience over 30 years from India. J Neurol Sci 2008;272:60-70.
54. Alonso A, Logroscino G, Jick SS, et al. Incidence and lifetime risk of motor neuron disease in the United Kingdom: a population-based study. Eur J Neurol 2009;16:745-51.
55. Johnston CA, Stanton BR, Turner MR, et al. Amyotrophic lateral sclerosis in an urban setting. A population based study of inner city London. J Neurol 2006;252:1642-3.
56. Kahana E, Alter M, Feldman M. Amyotrophic lateral sclerosis - a population Study. J Neurol 1976;212:205-13.
57. Okamoto K, Kobashi G, Washio M, et al. Descriptive epidemiology of amyotrophic lateral sclerosis in Japan, 1995-2001. J Epidemiol 2005;15:20-3.
58. Mulder DW, Kurland LT, Offord KP, et al. Familial motor neuron disease: amyotrophic lateral sclerosis. Neurology 1986;36:511-17. (Pubitemid 16070005)
59. Chiò A, Magnani C, Schiffer D. Amyotrophic lateral sclerosis mortality in Italy, 1958 to 1987. A cross-sectional and cohort study. Neurology 1993;43:927.
60. Matsumoto N, Worth R, Kurland L, et al. Epidemiologic study of ALS in Hawaii. Neurology 1972;22:934-40.
61. Juergens S, Kurland L, Okazaki H, et al. ALS in Rochester, Minnesota, 1925-1977. Neurology 1980;30:463.
62. Neilson S, Gunnarsson LG, Robinson I, et al. Rising mortality in motor neuron disease in Sweden 1961-1990. Acta Neurol Scand 1994;90:150-9.
63. Giagheddu M, Mascia V, Cannas A, et al. Amyotrophic lateral sclerosis in Sardinia Italy; an epidemiological study. Acta Neurol Scand 1993;87:446-54. (Pubitemid 23187972)
64. O'Toole O, Traynor BJ, Brennan P, et al. Epidemiology and clinical features of amyotrophic lateral sclerosis in Ireland between 1995 and 2004. J Neurol Neurosurg Psychiatry 2008;79:30-2.
65. Zoccolella S, Beghi E, Palagano G, et al. Signs and symptoms at diagnosis of amyotrophic lateral sclerosis: a population-based study in southern Italy. Eur J Neurol 2006;13:789-92. (Pubitemid 44139382)
66. The Scottish Motor Neuron Disease Research Group. The Scottish Motor Neuron Disease Register: a prospective study of adult onset motor neuron disease in Scotland. Methodology, demography and clinical features of incident cases in 1989. J Neurol Neurosurg Psychiatry 1992;55:536-41.
67. Kihira T, Yoshida S, Hironishi M, et al. Changes in the incidence of amyotrophic lateral sclerosis in Wakayama, Japan. Amyotroph Lateral Scler 2005;6:155-63. (Pubitemid 41419202)
68. van Es MA, Dahlberg C, Birve A, et al. Large scale SOD1 mutation screening provides evidence for genetic heterogeneity in amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry 2010;81:562-6.
69. Novembre J, Johnson T, Bryc K, et al. Genes mirror geography within Europe. Nature 2008;456:98-101.
70. Saeed M, Yang Y, Deng H-X, et al. Age and founder effect of SOD1 A4V mutation causing ALS. Neurology 2009;72:1634-9.
71. Maruyama H, Morino H, Ito H, et al. Mutations of optineurin in amyotrophic lateral sclerosis. Nature 2010;465:223-6.
72. Rabe M, Felbecker A, Waibel S, et al. The epidemiology of CuZn-SOD mutations in Germany: a study of 217 families. J Neurol 2010;257:1298-302.