Valdmanis and Rouleau 1

References-online only

1.Pasinelli P, Brown RH. Molecular biology of amyotrophic lateral sclerosis: insights from genetics. Nat Rev Neurosci 2006;7:710-723.

2.Strong MJ, Hudson AJ, Alvord WG. Familial amyotrophic lateral sclerosis, 1850-1989: a statistical analysis of the world literature. Can J Neurol Sci 1991;18:45-58.

3.Brooks BR. El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis. Subcommittee on Motor Neuron Diseases/Amyotrophic Lateral Sclerosis of the World Federation of Neurology Research Group on Neuromuscular Diseases and the El Escorial "Clinical limits of amyotrophic lateral sclerosis" workshop contributors. J Neurol Sci 1994;124 Suppl:96-107.

4.Kurtzke JF. Epidemiology of amyotrophic lateral sclerosis. Adv Neurol 1982;36:281-302.

5.Kurland LT, Mulder DW. Epidemiologic investigations of amyotrophic lateral sclerosis. I. Preliminary report on geographic distribution, with special reference to the Mariana Islands, including clinical and pathologic observations. Neurology 1954;4:355-378.

6.Shiraki H, Yase Y. Amyotrophic lateral sclerosis in Japan. In: Vinken PJ, Bruyn GW, Klawans HL, eds. Handbook of clinical neurology, vol 22. Amsterdam: North Holland, 1975: 353-419.

7.Riggs JE, Schochet SS, Jr. Rising mortality due to Parkinson's disease and amyotrophic lateral sclerosis: a manifestation of the competitive nature of human mortality. J Clin Epidemiol 1992;45:1007-1012.

8.Neilson S, Robinson I, Hunter M. Longitudinal Gompertzian analysis of ALS mortality in England and Wales, 1963-1989: estimates of susceptibility in the general population. Mech Ageing Dev 1992;64:201-216.

9.Nelson LM. Epidemiology of ALS. Clin Neurosci 1995;3:327-331.

10.Sejvar JJ, Holman RC, Bresee JS, Kochanek KD, Schonberger LB. Amyotrophic lateral sclerosis mortality in the United States, 1979-2001. Neuroepidemiology 2005;25:144-152.

11.Camu W, Khoris J, Moulard B, et al. Genetics of familial ALS and consequences for diagnosis. French ALS Research Group. J Neurol Sci 1999;165 Suppl 1:S21-26.

12.Abalkhail H, Mitchell J, Habgood J, Orrell R, de Belleroche J. A new familial amyotrophic lateral sclerosis locus on chromosome 16q12.1-16q12.2. Am J Hum Genet 2003;73:383-389.

13.Hand CK, Khoris J, Salachas F, et al. A novel locus for familial amyotrophic lateral sclerosis, on chromosome 18q. Am J Hum Genet 2002;70:251-256.

14.Ruddy DM, Parton MJ, Al-Chalabi A, et al. Two families with familial amyotrophic lateral sclerosis are linked to a novel locus on chromosome 16q. Am J Hum Genet 2003;73:390-396.

15.Sapp PC, Hosler BA, McKenna-Yasek D, et al. Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis. Am J Hum Genet 2003;73:397-403.

16.Morita M, Al-Chalabi A, Andersen PM, et al. A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia. Neurology 2006;66:839-844.

17.Valdmanis PN, Dupre N, Bouchard JP, et al. Three families with amyotrophic lateral sclerosis and frontotemporal dementia with evidence of linkage to chromosome 9p. Arch Neurol 2007;64:240-245.

18.Vance C, Al-Chalabi A, Ruddy D, et al. Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3. Brain 2006;129:868-876.

19.Graham AJ, Macdonald AM, Hawkes CH. British motor neuron disease twin study. J Neurol Neurosurg Psychiatry 1997;62:562-569.

20.Rosen DR, Siddique T, Patterson D, et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 1993;362:59-62.

21.Pramatarova A, Figlewicz DA, Krizus A, et al. Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis. Am J Hum Genet 1995;56:592-596.

22.Deng HX, Hentati A, Tainer JA, et al. Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase. Science 1993;261:1047-1051.

23.Reaume AG, Elliott JL, Hoffman EK, et al. Motor neurons in Cu/Zn superoxide dismutase-deficient mice develop normally but exhibit enhanced cell death after axonal injury. Nat Genet 1996;13:43-47.

24.Gurney ME, Pu H, Chiu AY, et al. Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation. Science 1994;264:1772-1775.

25.Ripps ME, Huntley GW, Hof PR, Morrison JH, Gordon JW. Transgenic mice expressing an altered murine superoxide dismutase gene provide an animal model of amyotrophic lateral sclerosis. Proc Natl Acad Sci U S A 1995;92:689-693.

26.Wong PC, Pardo CA, Borchelt DR, et al. An adverse property of a familial ALS-linked SOD1 mutation causes motor neuron disease characterized by vacuolar degeneration of mitochondria. Neuron 1995;14:1105-1116.

27.Shaw BF, Valentine JS. How do ALS-associated mutations in superoxide dismutase 1 promote aggregation of the protein? Trends Biochem Sci 2007;32:78-85.

28.Andersen PM, Nilsson P, Ala-Hurula V, et al. Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase. Nat Genet 1995;10:61-66.

29.Hand CK, Mayeux-Portas V, Khoris J, et al. Compound heterozygous D90A and D96N SOD1 mutations in a recessive amyotrophic lateral sclerosis family. Ann Neurol 2001;49:267-271.

30.Nishimura AL, Mitne-Neto M, Silva HC, et al. A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. Am J Hum Genet 2004;75:822-831.

31.Siddique T, Hong ST, Brooks BR, et al. X-linked dominant locus for late-onset familial amyotrophic lateral sclerosis. Am J Hum Genet 1998;Suppl 63:A308.

32.Al-Chalabi A, Leigh PN. Recent advances in amyotrophic lateral sclerosis. Curr Opin Neurol 2000;13:397-405.

33.Hudson AJ. Amyotrophic lateral sclerosis and its association with dementia, parkinsonism and other neurological disorders: a review. Brain 1981;104:217-247.

34.Hosler BA, Siddique T, Sapp PC, et al. Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22. Jama 2000;284:1664-1669.

35.Momeni P, Schymick JC, Jain S, et al. Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTD. BMC Neurol 2006;6:44.

36.Strong MJ, Yang W, Strong WL, Leystra-Lantz C, Jaffe H, Pant HC. Tau protein hyperphosphorylation in sporadic ALS with cognitive impairment. Neurology 2006;66:1770-1771.

37.Hutton M, Lendon CL, Rizzu P, et al. Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17. Nature 1998;393:702-705.

38.Lynch T, Sano M, Marder KS, et al. Clinical characteristics of a family with chromosome 17-linked disinhibition-dementia-parkinsonism-amyotrophy complex. Neurology 1994;44:1878-1884.

39.Skibinski G, Parkinson NJ, Brown JM, et al. Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia. Nat Genet 2005;37:806-808.

40.Parkinson N, Ince PG, Smith MO, et al. ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B). Neurology 2006.

41.Baker M, Mackenzie IR, Pickering-Brown SM, et al. Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature 2006.

42.Cruts M, Gijselinck I, van der Zee J, et al. Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. Nature 2006.

43.Spina S, Murrell JR, Huey ED, et al. Clinicopathologic features of frontotemporal dementia with Progranulin sequence variation. Neurology 2007.

44.Neumann M, Sampathu DM, Kwong LK, et al. Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 2006;314:130-133.

45.Hentati A, Bejaoui K, Pericak-Vance MA, et al. Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35. Nat Genet 1994;7:425-428.

46.Hadano S, Hand CK, Osuga H, et al. A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Nat Genet 2001;29:166-173.

47.Gros-Louis F, Meijer IA, Hand CK, et al. An ALS2 gene mutation causes hereditary spastic paraplegia in a Pakistani kindred. Ann Neurol 2003;53:144-145.

48.Yang Y, Hentati A, Deng HX, et al. The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. Nat Genet 2001;29:160-165.

49.Chance PF, Rabin BA, Ryan SG, et al. Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34. Am J Hum Genet 1998;62:633-640.

50.Rabin BA, Griffin JW, Crain BJ, Scavina M, Chance PF, Cornblath DR. Autosomal dominant juvenile amyotrophic lateral sclerosis. Brain 1999;122 (Pt 8):1539-1550.

51.Chen YZ, Bennett CL, Huynh HM, et al. DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). Am J Hum Genet 2004;74:1128-1135.

52.Hentati A, Ouahchi K, Pericak-Vance MA, et al. Linkage of a commoner form of recessive amyotrophic lateral sclerosis to chromosome 15q15-q22 markers. Neurogenetics 1998;2:55-60.

53.Dupre N, Valdmanis PN, Bouchard JP, Rouleau GA. Autosomal dominant primary lateral sclerosis. Neurology 2007;68:1156-1157.

54.Puls I, Jonnakuty C, LaMonte BH, et al. Mutant dynactin in motor neuron disease. Nat Genet 2003;33:455-456.

55.Munch C, Sedlmeier R, Meyer T, et al. Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS. Neurology 2004;63:724-726.

56.de Belleroche J, Orrell R, King A. Familial amyotrophic lateral sclerosis/motor neurone disease (FALS): a review of current developments. J Med Genet 1995;32:841-847.

57.Nishimura AL, Mitne-Neto M, Silva HC, Oliveira JR, Vainzof M, Zatz M. A novel locus for late onset amyotrophic lateral sclerosis/motor neurone disease variant at 20q13. J Med Genet 2004;41:315-320.

58.Melki J, Lefebvre S, Burglen L, et al. De novo and inherited deletions of the 5q13 region in spinal muscular atrophies. Science 1994;264:1474-1477.

59.La Spada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 1991;352:77-79.

60.Fink JK. Hereditary spastic paraplegia. Curr Neurol Neurosci Rep 2006;6:65-76.

61.Shastry BS, Giblin FJ. Genes and susceptible loci of Alzheimer's disease. Brain Res Bull 1999;48:121-127.

62.de Lau LM, Breteler MM. Epidemiology of Parkinson's disease. Lancet Neurol 2006;5:525-535.

63.Polymeropoulos MH, Lavedan C, Leroy E, et al. Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. Science 1997;276:2045-2047.

64.Schymick JC, Scholz SW, Fung HC, et al. Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data. Lancet Neurol 2007;6:322-328.

65.Oosthuyse B, Moons L, Storkebaum E, et al. Deletion of the hypoxia-response element in the vascular endothelial growth factor promoter causes motor neuron degeneration. Nat Genet 2001;28:131-138.

66.Azzouz M, Ralph GS, Storkebaum E, et al. VEGF delivery with retrogradely transported lentivector prolongs survival in a mouse ALS model. Nature 2004;429:413-417.

67.Greenway MJ, Andersen PM, Russ C, et al. ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis. Nat Genet 2006;38:411-413.

68.Hayward C, Colville S, Swingler RJ, Brock DJ. Molecular genetic analysis of the APEX nuclease gene in amyotrophic lateral sclerosis. Neurology 1999;52:1899-1901.

69.Slowik A, Tomik B, Wolkow PP, et al. Paraoxonase gene polymorphisms and sporadic ALS. Neurology 2006;67:766-770.

70.Saeed M, Siddique N, Hung WY, et al. Paraoxonase cluster polymorphisms are associated with sporadic ALS. Neurology 2006;67:771-776.

71.Morahan JM, Yu B, Trent RJ, Pamphlett R. A gene-environment study of the paraoxonase 1 gene and pesticides in amyotrophic lateral sclerosis. Neurotoxicology 2006.

72.Hirano A, Nakano I, Kurland LT, Mulder DW, Holley PW, Saccomanno G. Fine structural study of neurofibrillary changes in a family with amyotrophic lateral sclerosis. J Neuropathol Exp Neurol 1984;43:471-480.

73.Figlewicz DA, Krizus A, Martinoli MG, et al. Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis. Hum Mol Genet 1994;3:1757-1761.

74.Al-Chalabi A, Andersen PM, Nilsson P, et al. Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis. Hum Mol Genet 1999;8:157-164.

75.Gros-Louis F, Lariviere R, Gowing G, et al. A frameshift deletion in peripherin gene associated with amyotrophic lateral sclerosis. J Biol Chem 2004;279:45951-45956.

76.Jackson M, Morrison KE, Al-Chalabi A, Bakker M, Leigh PN. Analysis of chromosome 5q13 genes in amyotrophic lateral sclerosis: homozygous NAIP deletion in a sporadic case. Ann Neurol 1996;39:796-800.

77.Veldink JH, van den Berg LH, Cobben JM, et al. Homozygous deletion of the survival motor neuron 2 gene is a prognostic factor in sporadic ALS. Neurology 2001;56:749-752.

78.Veldink JH, Kalmijn S, Van der Hout AH, et al. SMN genotypes producing less SMN protein increase susceptibility to and severity of sporadic ALS. Neurology 2005;65:820-825.

79.Corcia P, Camu W, Halimi JM, et al. SMN1 gene, but not SMN2, is a risk factor for sporadic ALS. Neurology 2006;67:1147-1150.

80.Masu Y, Wolf E, Holtmann B, Sendtner M, Brem G, Thoenen H. Disruption of the CNTF gene results in motor neuron degeneration. Nature 1993;365:27-32.

81.Sendtner M, Gotz R, Holtmann B, et al. Cryptic physiological trophic support of motoneurons by LIF revealed by double gene targeting of CNTF and LIF. Curr Biol 1996;6:686-694.

82.Giess R, Holtmann B, Braga M, et al. Early onset of severe familial amyotrophic lateral sclerosis with a SOD-1 mutation: potential impact of CNTF as a candidate modifier gene. Am J Hum Genet 2002;70:1277-1286.

83.Giess R, Beck M, Goetz R, Nitsch RM, Toyka KV, Sendtner M. Potential role of LIF as a modifier gene in the pathogenesis of amyotrophic lateral sclerosis. Neurology 2000;54:1003-1005.

84.Olsen MK, Roberds SL, Ellerbrock BR, Fleck TJ, McKinley DK, Gurney ME. Disease mechanisms revealed by transcription profiling in SOD1-G93A transgenic mouse spinal cord. Ann Neurol 2001;50:730-740.

85.al-Chalabi A, Enayat ZE, Bakker MC, et al. Association of apolipoprotein E epsilon 4 allele with bulbar-onset motor neuron disease. Lancet 1996;347:159-160.

86.Li YJ, Pericak-Vance MA, Haines JL, et al. Apolipoprotein E is associated with age at onset of amyotrophic lateral sclerosis. Neurogenetics 2004;5:209-213.

87.Drory VE, Birnbaum M, Korczyn AD, Chapman J. Association of APOE epsilon4 allele with survival in amyotrophic lateral sclerosis. J Neurol Sci 2001;190:17-20.

88.Siddique T, Pericak-Vance MA, Caliendo J, et al. Lack of association between apolipoprotein E genotype and sporadic amyotrophic lateral sclerosis. Neurogenetics 1998;1:213-216.

89.Smith RG, Haverkamp LJ, Case S, Appel V, Appel SH. Apolipoprotein E epsilon 4 in bulbar-onset motor neuron disease. Lancet 1996;348:334-335.

90.Mui S, Rebeck GW, McKenna-Yasek D, Hyman BT, Brown RH, Jr. Apolipoprotein E epsilon 4 allele is not associated with earlier age at onset in amyotrophic lateral sclerosis. Ann Neurol 1995;38:460-463.

91.Sutedja NA, Sinke RJ, Van Vught PW, et al. The association between H63D mutations in HFE and amyotrophic lateral sclerosis in a Dutch population. Arch Neurol 2007;64:63-67.

92.Kirby J, Halligan E, Baptista MJ, et al. Mutant SOD1 alters the motor neuronal transcriptome: implications for familial ALS. Brain 2005;128:1686-1706.

93.Yoshihara T, Ishigaki S, Yamamoto M, et al. Differential expression of inflammation- and apoptosis-related genes in spinal cords of a mutant SOD1 transgenic mouse model of familial amyotrophic lateral sclerosis. J Neurochem 2002;80:158-167.

94.Malaspina A, Kaushik N, de Belleroche J. Differential expression of 14 genes in amyotrophic lateral sclerosis spinal cord detected using gridded cDNA arrays. J Neurochem 2001;77:132-145.

95.Jiang YM, Yamamoto M, Kobayashi Y, et al. Gene expression profile of spinal motor neurons in sporadic amyotrophic lateral sclerosis. Ann Neurol 2005;57:236-251.

96.Lederer CW, Torrisi A, Pantelidou M, Santama N, Cavallaro S. Pathways and genes differentially expressed in the motor cortex of patients with sporadic amyotrophic lateral sclerosis. BMC Genomics 2007;8:26.

97.Simpson CL, Al-Chalabi A. Amyotrophic lateral sclerosis as a complex genetic disease. Biochim Biophys Acta 2006;1762:973-985.

98.Broom WJ, Parton MJ, Vance CA, et al. No association of the SOD1 locus and disease susceptibility or phenotype in sporadic ALS. Neurology 2004;63:2419-2422.

99.Khabazian I, Bains JS, Williams DE, et al. Isolation of various forms of sterol beta-D-glucoside from the seed of Cycas circinalis: neurotoxicity and implications for ALS-parkinsonism dementia complex. J Neurochem 2002;82:516-528.

100.Murch SJ, Cox PA, Banack SA. A mechanism for slow release of biomagnified cyanobacterial neurotoxins and neurodegenerative disease in Guam. Proc Natl Acad Sci U S A 2004;101:12228-12231.

101.Nelson LM, McGuire V, Longstreth WT, Jr., Matkin C. Population-based case-control study of amyotrophic lateral sclerosis in western Washington State. I. Cigarette smoking and alcohol consumption. Am J Epidemiol 2000;151:156-163.

102.Kamel F, Umbach DM, Munsat TL, Shefner JM, Sandler DP. Association of cigarette smoking with amyotrophic lateral sclerosis. Neuroepidemiology 1999;18:194-202.

103.Weisskopf MG, McCullough ML, Calle EE, Thun MJ, Cudkowicz M, Ascherio A. Prospective study of cigarette smoking and amyotrophic lateral sclerosis. Am J Epidemiol 2004;160:26-33.

104.Chancellor AM, Slattery JM, Fraser H, Warlow CP. Risk factors for motor neuron disease: a case-control study based on patients from the Scottish Motor Neuron Disease Register. J Neurol Neurosurg Psychiatry 1993;56:1200-1206.

105.Chio A, Benzi G, Dossena M, Mutani R, Mora G. Severely increased risk of amyotrophic lateral sclerosis among Italian professional football players. Brain 2005;128:472-476.

106.Longstreth WT, McGuire V, Koepsell TD, Wang Y, van Belle G. Risk of amyotrophic lateral sclerosis and history of physical activity: a population-based case-control study. Arch Neurol 1998;55:201-206.

107.Scarmeas N, Shih T, Stern Y, Ottman R, Rowland LP. Premorbid weight, body mass, and varsity athletics in ALS. Neurology 2002;59:773-775.

108.Horner RD, Kamins KG, Feussner JR, et al. Occurrence of amyotrophic lateral sclerosis among Gulf War veterans. Neurology 2003;61:742-749.

109.Haley RW. Excess incidence of ALS in young Gulf War veterans. Neurology 2003;61:750-756.

110.Plato CC, Reed DM, Elizan TS, Kurland LT. Amyotrophic lateral sclerosis-Parkinsonism-dementia complex of Guam. IV. Familial and genetic investigations. Am J Hum Genet 1967;19:617-632.

111.Jirtle RL, Skinner MK. Environmental epigenomics and disease susceptibility. Nat Rev Genet 2007;8:253-262.

112.Pamphlett R. Somatic mutation: a cause of sporadic neurodegenerative diseases? Med Hypotheses 2004;62:679-682.

113.Shaw PJ, Tomkins J, Slade JY, et al. CNS tissue Cu/Zn superoxide dismutase (SOD1) mutations in motor neurone disease (MND). Neuroreport 1997;8:3923-3927.

114.Cudkowicz ME, McKenna-Yasek D, Sapp PE, et al. Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis. Ann Neurol 1997;41:210-221.

115.Kaneko K, Saito F, Sunohara N, Ikeuchi T. Cytogenetic analysis of 23 Japanese patients with amyotrophic lateral sclerosis. Clin Genet 1995;47:158-160.

116.Meyer T, Alber B, Roemer K, et al. High rate of constitutional chromosomal rearrangements in apparently sporadic ALS. Neurology 2003;60:1348-1350.

117.Urushitani M, Sik A, Sakurai T, Nukina N, Takahashi R, Julien JP. Chromogranin-mediated secretion of mutant superoxide dismutase proteins linked to amyotrophic lateral sclerosis. Nat Neurosci 2006;9:108-118.

118.Berger MM, Kopp N, Vital C, Redl B, Aymard M, Lina B. Detection and cellular localization of enterovirus RNA sequences in spinal cord of patients with ALS. Neurology 2000;54:20-25.

119.Nix WA, Berger MM, Oberste MS, et al. Failure to detect enterovirus in the spinal cord of ALS patients using a sensitive RT-PCR method. Neurology 2004;62:1372-1377.

120.Jubelt B. Viruses and motor neuron diseases. Adv Neurol 1991;56:463-472.

121.Verma A, Berger JR. ALS syndrome in patients with HIV-1 infection. J Neurol Sci 2006;240:59-64.

122.Poskanzer DC, Cantor HM, Kaplan GS. The frequency of preceding poliomyelitis in amyotrophic lateral sclerosis. In: Norris FHJ, Kurland LT, eds. Motor neuron disease: Research on amyotrophic lateral sclerosis and related disorders, vol. New York: Grune & Stratton, 1969: 286-290.

123.Pardo CA, Xu Z, Borchelt DR, Price DL, Sisodia SS, Cleveland DW. Superoxide dismutase is an abundant component in cell bodies, dendrites, and axons of motor neurons and in a subset of other neurons. Proc Natl Acad Sci U S A 1995;92:954-958.