A comprehensive review of amyotrophic lateral sclerosis

Surgical Neurology International

Volumn 6, Issue 1, 2015, Pages

  Zarei, Sara ^a   Carr, Karen ^a   Reiley, Luz ^a   Diaz, Kelvin ^a   Guerra, Orleiquis ^a   Altamirano, Pablo Fernandez ^a   Pagani, Wilfredo ^a   Lodin, Daud ^a   Orozco, Gloria ^a   Chinea, Angel ^b  

^a San Juan Bautista School of Medicine   (Puerto Rico)

^b Caribbean Neurological Center   (United States)

Author keywords

Amyotrophic lateral sclerosis; sporadic and familial ALS; superoxide dismutase

Indexed keywords

EID: 84977624514     PISSN: None     EISSN: 21527806     Source Type: Journal    
DOI: 10.4103/2152-7806.169561     Document Type: Review

References (333)

1. Abel EL. Football increases the risk for Lou Gehrig's disease, amyotrophic lateral sclerosis. Percept Mot Skills 2007;104 (3 Pt 2):1251-4.
2. Abhinav K, Stanton B, Johnston C, Hardstaff J, Orrell RW, Howard R, 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.
3. Agosta F, Al-Chalabi A, Filippi M, Hardiman O, Kaji R, Meininger V, et al. The El Escorial criteria: Strengths and weaknesses. Amyotroph Lateral Scler Frontotemporal Degener 2015;16:1-7.
4. Alavi A, Khani M, Nafissi S, Shamshiri H, Elahi E. An Iranian familial amyotrophic lateral sclerosis pedigree with p.Val48Phe causing mutation in SOD1: A genetic and clinical report. Iran J Basic Med Sci 2014;17:735-9.
5. Al-Chalabi A, Leigh PN. Trouble on the pitch: Are professional football players at increased risk of developing amyotrophic lateral sclerosis? Brain 2005;128 (Pt 3):451-3.
6. Alexianu ME, Ho BK, Mohamed AH, La Bella V, Smith RG, Appel SH. The role of calcium-binding proteins in selective motoneuron vulnerability in amyotrophic lateral sclerosis. Ann Neurol 1994;36:846-58.
7. Al-exianu ME, Manole E, Engelhardt JI, Appel SH. Ultrastructural evidence of calcium involvement in experimental autoimmune gray matter disease. J Neurosci Res 2000;60:98-105.
8. AlSarraj S, King A, Cleveland M, Pradat PF, Corse A, Rothstein JD, et al. Mitochondrial abnormalities and low grade inflammation are present in the skeletal muscle of a minority of patients with amyotrophic lateral sclerosis; an observational myopathology study. Acta Neuropathol Commun 2014;2:165.
9. Andersen PM, Borasio GD, Dengler R, Hardiman O, Kollewe K, Leigh PN, 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.
10. Andreassen OA, Jenkins BG, Dedeoglu A, Ferrante KL, Bogdanov MB, Kaddurah-Daouk R, et al. Increases in cortical glutamate concentrations in transgenic amyotrophic lateral sclerosis mice are attenuated by creatine supplementation. J Neurochem 2001;77:383-90.
11. Armstrong MJ, Litvan I, Lang AE, Bak TH, Bhatia KP, Borroni B, et al. Criteria for the diagnosis of corticobasal degeneration. Neurology 2013;80:496-503.
12. Atassi N, Cook A, Pineda CM, Yerramilli-Rao P, Pulley D, Cudkowicz M. Depression in amyotrophic lateral sclerosis. Amyotroph Lateral Scler 2011;12:109-12.
13. Azari MF, Profyris C, Le Grande MR, Lopes EC, Hirst J, Petratos S, et al. Effects of intraperitoneal injection of Rofecoxib in a mouse model of ALS. Eur J Neurol 2005;12:357-64.
14. Barber SC, Shaw PJ. Oxidative stress in ALS: Key role in motor neuron injury and therapeutic target. Free Radic Biol Med 2010;48:629-41.
15. Barkhof F, Filippi M, Miller DH, Scheltens P, Campi A, Polman CH, et al. Comparison of MRI criteria at first presentation to predict conversion to clinically definite multiple sclerosis. Brain 1997;120 (Pt 11):2059-69.
16. Beers DR, Ho BK, Siklós L, Alexianu ME, Mosier DR, Mohamed AH, et al. Parvalbumin overexpression alters immunemediated increases in intracellular calcium, and delays disease onset in a transgenic model of familial amyotrophic lateral sclerosis. J Neurochem 2001;79:499-509.
17. Beghi E, Logroscino G, Chiò A, Hardiman O, Millul A, Mitchell D, et al. Amyotrophic lateral sclerosis, physical exercise, trauma and sports: Results of a populationbased pilot case-control study. Amyotroph Lateral Scler 2010;11:289-92.
18. Behnia M, Kelly JJ. Role of electromyography in amyotrophic lateral sclerosis. Muscle Nerve 1991;14:1236-41.
19. Bensimon G, Lacomblez L, Delumeau JC, Bejuit R, Truffinet P, Meininger V, et al. A study of riluzole in the treatment of advanced stage or elderly patients with amyotrophic lateral sclerosis. J Neurol 2002;249:609-15.
20. Bensimon G, Lacomblez L, Meininger V. A controlled trial of riluzole in amyotrophic lateral sclerosis. ALS/Riluzole Study Group. N Engl J Med 1994;330:585-91.
21. Bernard-Marissal N, Moumen A, Sunyach C, Pellegrino C, Dudley K, Henderson CE, et al. Reduced calreticulin levels link endoplasmic reticulum stress and Fast-riggered cell death in motoneurons vulnerable to ALS. J Neurosci 2012;32:4901-12.
22. Bilsland LG, Sahai E, Kelly G, Golding M, Greensmith L, Schiavo G. Deficits in axonal transport precede ALS symptoms in vivo. Proc Natl Acad Sci U S A 2010;107:20523-8.
23. Blair IP, Williams KL, Warraich ST, Durnall JC, Thoeng AD, Manavis J, et al. FUS mutations in amyotrophic lateral sclerosis: Clinical, pathological, neurophysiological and genetic analysis. J Neurol Neurosurg Psychiatry 2010;81:639-45.
24. Blatzheim K. Interdisciplinary palliative care, including massage, in treatment of amyotrophic lateral sclerosis. J Bodyw Mov Ther 2009;13:328-35.
25. Boillée S, Vande Velde C, Cleveland DW. ALS: A disease of motor neurons and their nonneuronal neighbors. Neuron 2006;52:39-59.
26. Borasio GD, Miller RG. Clinical characteristics and management of ALS. Semin Neurol 2001;21:155-66.
27. Borasio GD, Voltz R, Miller RG. Palliative care in amyotrophic lateral sclerosis. Neurol Clin 2001;19:829-47.
28. Borasio GD, Voltz R. Palliative care in amyotrophic lateral sclerosis. J Neurol 1997;244 Suppl 4:S11-7.
29. Bordet T, Berna P, Abitbol JL, Pruss R. Olesoxime (TRO19622): A novel mitochondrial-targeted neuroprotective compound. Pharmaceuticals 2010;3:345-68.
30. Bordet T, Buisson B, Michaud M, Drouot C, Galéa P, Delaage P, et al. Identification and characterization of cholest-4-en-3-one, oxime (TRO19622), a novel drug candidate for amyotrophic lateral sclerosis. J Pharmacol Exp Ther 2007;322:709-20.
31. Borthwick GM, Johnson MA, Ince PG, Shaw PJ, Turnbull DM. Mitochondrial enzyme activity in amyotrophic lateral sclerosis: Implications for the role of mitochondria in neuronal cell death. Ann Neurol 1999;46:787-90.
32. Boston-Howes W, Williams EO, Bogush A, Scolere M, Pasinelli P, Trotti D. Nordihydroguaiaretic acid increases glutamate uptake in vitro and in vivo: Therapeutic implications for amyotrophic lateral sclerosis. Exp Neurol 2008;213:229-37.
33. Boxer AL, Mackenzie IR, Boeve BF, Baker M, Seeley WW, Crook R, et al. Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family. J Neurol Neurosurg Psychiatry 2011;82:196-203.
34. Bradley WG, Mash DC. Beyond Guam: The cyanobacteria/BMAA hypothesis of the cause of ALS and other neurodegenerative diseases. Amyotroph Lateral Scler 2009;10 Suppl 2:7-20.
35. Brooks BR, Miller R, Swash M, Munsat TL. El Escorial revisited: Revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler 2000;1:293-9.
36. Brooks BR, Sanjak M, Roelke K. Phase 2B randomized dose ranging clinical trial of tamoxifen, a selective estrogen receptor modulator [SERM], in ALS: Sensitivity analyses of discordance between survival and functional outcomes with long-term follow-up. Amyotroph Lateral Scler Other Motor Neuron Disord 2005;6 Suppl 1:118.
37. Brooks DJ. Parkinson's disease: Diagnosis. Parkinsonism Relat Disord 2012;18:S31-3.
38. Busch MA, Maske UE, Ryl L, Schlack R, Hapke U. Prevalence of depressive symptoms and diagnosed depression among adults in Germany: results of the German Health Interview and Examination Survey for Adults. Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz 2013;56:733-9.
39. Byrne S, Walsh C, Lynch C, Bede P, Elamin M, Kenna K, et al. Rate of familial amyotrophic lateral sclerosis: A systematic review and meta-analysis. J Neurol Neurosurg Psychiatry 2011;82:623-7.
40. Carilho R, de Carvalho M, Kuehl U, Pinto S, Pinto A, Kromminga A, et al. Erythropoietin and amyotrophic lateral sclerosis: Plasma level determination. Amyotroph Lateral Scler 2011;12:439-43.
41. Carrì MT, Valle C, Bozzo F, Cozzolino M. Oxidative stress and mitochondrial damage: Importance in non-SOD1 ALS. Front Cell Neurosci 2015;9:41.
42. Cats EA, van der Pol WL, Piepers S, Franssen H, Jacobs BC, van den Berg-Vos RM, et al. Correlates of outcome and response to IVIg in 88 patients with multifocal motor neuropathy. Neurology 2010;75:818-25.
43. Chancellor AM, Slattery JM, Fraser H, Swingler RJ, Holloway SM, Warlow CP. The prognosis of adult-onset motor neuron disease: A prospective study based on the Scottish Motor Neuron Disease Register. J Neurol 1993;240:339-46.
44. Chang Y, Kong Q, Shan X, Tian G, Ilieva H, Cleveland DW, et al. Messenger RNA oxidation occurs early in disease pathogenesis and promotes motor neuron degeneration in ALS. PLoS One 2008;3:e2849.
45. Cheah BC, Kiernan MC. Dexpramipexole, the R(+) enantiomer of pramipexole, for the potential treatment of amyotrophic lateral sclerosis. IDrugs 2010;13:911-20.
46. Chen H, Richard M, Sandler DP, Umbach DM, Kamel F. Head injury and amyotrophic lateral sclerosis. Am J Epidemiol 2007;166:810-6.
47. Chen YZ, Bennett CL, Huynh HM, Blair IP, Puls I, Irobi J, et al. DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). Am J Hum Genet 2004;74:1128-35.
48. Chiò A, Benzi G, Dossena M, Mutani R, Mora G. Severely increased risk of amyotrophic lateral sclerosis among Italian professional football players. Brain 2005;128 (Pt 3):472-6.
49. Chiò A, Borghero G, Pugliatti M, Ticca A, Calvo A, Moglia C, et al. Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene. Arch Neurol 2011;68:594-8.
50. Chiò A, Bottacchi E, Buffa C, Mutani R, Mora G; PARALS. Positive effects of tertiary centres for amyotrophic lateral sclerosis on outcome and use of hospital facilities. J Neurol Neurosurg Psychiatry 2006;77:948-50.
51. Chiò A, Finocchiaro E, Meineri P, Bottacchi E, Schiffer D. Safety and factors related to survival after percutaneous endoscopic gastrostomy in ALS. ALS Percutaneous Endoscopic Gastrostomy Study Group. Neurology 1999;53:1123-5.
52. Chiò A, Gauthier A, Montuschi A, Calvo A, Di Vito N, Ghiglione P, et al. A cross sectional study on determinants of quality of life in ALS. J Neurol Neurosurg Psychiatry 2004;75:1597-601.
53. Chung MJ, Suh YL. Ultrastructural changes of mitochondria in the skeletal muscle of patients with amyotrophic lateral sclerosis. Ultrastruct Pathol 2002;26:3-7.
54. Corcia P, Pradat PF, Salachas F, Bruneteau G, Forestier Nl, Seilhean D, et al. Causes of death in a post-mortem series of ALS patients. Amyotroph Lateral Scler 2008;9:59-62.
55. Corcoran LJ, Mitchison TJ, Liu Q. A novel action of histone deacetylase inhibitors in a protein aggresome disease model. Curr Biol 2004;14:488-92.
56. Corrado L, Del Bo R, Castellotti B, Ratti A, Cereda C, Penco S, et al. Mutations of FUS gene in sporadic amyotrophic lateral sclerosis. J Med Genet 2010;47:190-4.
57. Costa J, Swash M, de Carvalho M. Awaji criteria for the diagnosis of amyotrophic lateral sclerosis: A systematic review. Arch Neurol 2012;69:1410-6.
58. Cozzolino M, Rossi S, Mirra A, Carrì MT. Mitochondrial dynamism and the pathogenesis of Amyotrophic Lateral Sclerosis. Front Cell Neurosci 2015;9:31.
59. Cudkowicz M, Qureshi M, Shefner J. Measures and markers in amyotrophic lateral sclerosis. NeuroRx 2004;1:273-83.
60. Cudkowicz ME, Andres PL, Macdonald SA, Bedlack RS, Choudry R, Brown RH Jr, et al. Phase 2 study of sodium phenylbutyrate in ALS. Amyotroph Lateral Scler 2009;10:99-106.
61. Cudkowicz ME, Shefner JM, Simpson E, Grasso D, Yu H, Zhang H, et al. Arimoclomol at dosages up to 300 mg/day is well tolerated and safe in amyotrophic lateral sclerosis. Muscle Nerve 2008;38:837-44.
62. Czaplinski A, Yen AA, Appel SH. Forced vital capacity (FVC) as an indicator of survival and disease progression in an ALS clinic population. J Neurol Neurosurg Psychiatry 2006;77:390-2.
63. Dangoumau A, Verschueren A, Hammouche E, Papon MA, Blasco H, Cherpi-Antar C, et al. Novel SOD1 mutation p.V31A identified with a slowly progressive form of amyotrophic lateral sclerosis. Neurobiol Aging 2014;35:266.e1-4.
64. Davenport RJ, Swingler RJ, Chancellor AM, Warlow CP. Avoiding false positive diagnoses of motor neuron disease: Lessons from the Scottish Motor Neuron Disease Register. J Neurol Neurosurg Psychiatry 1996;60:147-51.
65. de Carvalho M, Dengler R, Eisen A, England JD, Kaji R, Kimura J, et al. Electrodiagnostic criteria for diagnosis of ALS. Clin Neurophysiol 2008;119:497-503.
66. de Carvalho M, Matias T, Coelho F, Evangelista T, Pinto A, Luís ML. Motor neuron disease presenting with respiratory failure. J Neurol Sci 1996;139 Suppl: 117-22.
67. de Carvalho M, Pinto S, Costa J, Evangelista T, Ohana B, Pinto A. A randomized, placebo-controlled trial of memantine for functional disability in amyotrophic lateral sclerosis. Amyotroph Lateral Scler 2010;11:456-60.
68. de Paulis T. ONO-2506. Ono. Curr Opin Investig Drugs 2003;4:863-7.
69. De Vos K, Severin F, Van Herreweghe F, Vancompernolle K, Goossens V, Hyman A, et al. Tumor necrosis factor induces hyperphosphorylation of kinesin light chain and inhibits kinesin-mediated transport of mitochondria. J Cell Biol 2000;149:1207-14.
70. De Vos KJ, Chapman AL, Tennant ME, Manser C, Tudor EL, Lau KF, et al. Familial amyotrophic lateral sclerosis-linked SOD1 mutants perturb fast axonal transport to reduce axonal mitochondria content. Hum Mol Genet 2007;16:2720-8.
71. Debono MW, Le Guern J, Canton T, Doble A, Pradier L. Inhibition by riluzole of electrophysiological responses mediated by rat kainate and NMDA receptors expressed in Xenopus oocytes. Eur J Pharmacol 1993;235:283-9.
72. Degens H, Alway SE. Control of muscle size during disuse, disease, and aging. Int J Sports Med 2006;27:94-9.
73. Deivasigamani S, Verma HK, Ueda R, Ratnaparkhi A, Ratnaparkhi GS. A genetic screen identifies Tor as an interactor of VAPB in a Drosophila model of amyotrophic lateral sclerosis. Biol Open 2014;3:1127-38.
74. Desnuelle C, Dib M, Garrel C, Favier A. A double-blind, placebocontrolled randomized clinical trial of alpha-tocopherol (Vitamin E) in the treatment of amyotrophic lateral sclerosis. ALS riluzole-tocopherol Study Group. Amyotroph Lateral Scler Other Motor Neuron Disord 2001;2:9-18.
75. Devasagayam TP, Tilak JC, Boloor KK, Sane KS, Ghaskadbi SS, Lele RD. Free radicals and antioxidants in human health: Current status and future prospects. J Assoc Physicians India 2004;52:794-804.
76. Din JN, Newby DE, Flapan AD. Omega 3 fatty acids and cardiovascular disease-Fishing for a natural treatment. BMJ 2004;328:30-5.
77. Doblhammer G, Fink A, Fritze T. Short-term trends in dementia prevalence in Germany between the years 2007 and 2009. Alzheimers Dement 2015;11:291-9.
78. Donnelly CJ, Zhang PW, Pham JT, Haeusler AR, Mistry NA, Vidensky S, et al. RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention. Neuron 2013;80:415-28.
79. Dubner R, Gold M. The neurobiology of pain. Proc Natl Acad Sci U S A 1999;96:7627-30.
80. Duffy JR, Peach RK, Strand EA. Progressive apraxia of speech as a sign of motor neuron disease. Am J Speech Lang Pathol 2007;16:198-208.
81. Duffy JR. Apraxia of speech in degenerative neurologic disease. Aphasiology 2006;20:511-27.
82. Duvoisin RC, Golbe LI, Lepore FE. Progressive supranuclear palsy. Can J Neurol Sci 1987;14 3 Suppl: 547-54.
83. Echaniz-Laguna A, Zoll J, Ribera F, Tranchant C, Warter JM, Lonsdorfer J, et al. Mitochondrial respiratory chain function in skeletal muscle of ALS patients. Ann Neurol 2002;52:623-7.
84. EFNS Task Force on Diagnosis and Management of Amyotrophic Lateral Sclerosis, Andersen PM, Abrahams S, Borasio GD, de Carvalho M, Chio A, et al. EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)-Revised report of an EFNS task force. Eur J Neurol 2012;19:360-75.
85. Ellis CM, Dawson JM, Williams SC, Leigh PN. Distinct hyperintense MRI signal changes in the corticospinal tracts of a patient with motor neuron disease. Amyotroph Lateral Scler 2000;1:41-4.
86. Emery SE. Cervical spondylotic myelopathy: Diagnosis and treatment. J Am Acad Orthop Surg 2001;9:376-88.
87. Ferguson TA, Elman LB. Clinical presentation and diagnosis of amyotrophic lateral sclerosis. NeuroRehabilitation 2007;22:409-16.
88. Ferraiuolo L, Kirby J, Grierson AJ, Sendtner M, Shaw PJ. Molecular pathways of motor neuron injury in amyotrophic lateral sclerosis. Nat Rev Neurol 2011;7:616-30.
89. Ferrante KL, Shefner J, Zhang H, Betensky R, O'Brien M, Yu H, et al. Tolerance of high-dose (3,000 mg/day) coenzyme Q10 in ALS. Neurology 2005;65:1834-6.
90. Fink JK. Hereditary spastic paraplegia. Curr Neurol Neurosci Rep 2006;6:65-76.
91. Fischbeck KH. Kennedy disease. J Inherit Metab Dis 1997;20:152-8.
92. Fitting JW, Paillex R, Hirt L, Aebischer P, Schluep M. Sniff nasal pressure: A sensitive respiratory test to assess progression of amyotrophic lateral sclerosis. Ann Neurol 1999;46:887-93.
93. Forbes RB, Colville S, Swingler RJ; Scottish ALS/MND Register. The epidemiology of amyotrophic lateral sclerosis (ALS/MND) in people aged 80 or over. Age Ageing 2004;33:131-4.
94. Forsberg K, Andersen PM, Marklund SL, Brännström T. Glial nuclear aggregates of superoxide dismutase-1 are regularly present in patients with amyotrophic lateral sclerosis. Acta Neuropathol 2011;121:623-34.
95. Ganzini L, Johnston WS, Hoffman WF. Correlates of suffering in amyotrophic lateral sclerosis. Neurology 1999;52:1434-40.
96. Garber K. Genetics. The elusive ALS genes. Science 2008;319:20.
97. Geevasinga N, Menon P, Yiannikas C, Kiernan MC, Vucic S. Diagnostic utility of cortical excitability studies in amyotrophic lateral sclerosis. Eur J Neurol 2014;21:1451-7.
98. Ghadge GD, Slusher BS, Bodner A, Canto MD, Wozniak K, Thomas AG, et al. Glutamate carboxypeptidase II inhibition protects motor neurons from death in familial amyotrophic lateral sclerosis models. Proc Natl Acad Sci U S A 2003;100:9554-9.
99. Gibb WR, Luthert PJ, Marsden CD. Corticobasal degeneration. Brain 1989;112 (Pt 5):1171-92.
100. Gijselinck I, Van Langenhove T, van der Zee J, Sleegers K, Philtjens S, Kleinberger G, et al. A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degenerationamyotrophic lateral sclerosis spectrum: A gene identification study. Lancet Neurol 2012;11:54-65.
101. Goetz CG. Amyotrophic lateral sclerosis: Early contributions of Jean-Martin Charcot. Muscle Nerve 2000;23:336-43.
102. Goldstein LH, Atkins L, Landau S, Brown RG, Leigh PN. Longitudinal predictors of psychological distress and self-esteem in people with ALS. Neurology 2006;67:1652-8.
103. Gordon PH, Cheng B, Katz IB, Pinto M, Hays AP, Mitsumoto H, et al. The natural history of primary lateral sclerosis. Neurology 2006;66:647-53.
104. Gordon PH, Moore DH, Miller RG, Florence JM, Verheijde JL, Doorish C, et al. Efficacy of minocycline in patients with amyotrophic lateral sclerosis: A phase III randomised trial. Lancet Neurol 2007;6:1045-53.
105. Gößwald A, Schienkiewitz A, Nowossadeck E, Busch MA. Prevalence of myocardial infarction and coronary heart disease in adults aged 40 to 79 years in Germany. Bundesgesundheitsblatt Health 2013;56:650-655.
106. Graf M, Ecker D, Horowski R, Kramer B, Riederer P, Gerlach M, et al. High dose Vitamin E therapy in amyotrophic lateral sclerosis as add-on therapy to riluzole: Results of a placebo-controlled double-blind study. J Neural Transm 2005;112:649-60.
107. Greenway MJ, Andersen PM, Russ C, Ennis S, Cashman S, Donaghy C, et al. ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis. Nat Genet 2006;38:411-3.
108. Groeneveld GJ, Veldink JH, van der Tweel I, Kalmijn S, Beijer C, de Visser M, et al. A randomized sequential trial of creatine in amyotrophic lateral sclerosis. Ann Neurol 2003;53:437-45.
109. Gross TS, Poliachik SL, Prasad J, Bain SD. The effect of muscle dysfunction on bone mass and morphology. J Musculoskelet Neuronal Interact 2010;10:25-34.
110. Gruis KL, Lechtzin N. Respiratory therapies for amyotrophic lateral sclerosis: A primer. Muscle Nerve 2012;46:313-31.
111. Gurney ME, Cutting FB, Zhai P, Doble A, Taylor CP, Andrus PK, et al. Benefit of Vitamin E, riluzole, and gabapentin in a transgenic model of familial amyotrophic lateral sclerosis. Ann Neurol 1996;39:147-57.
112. Haimanot RT, Kidane Y, Wuhib E, Kalissa A, Alemu T, Zein ZA, et al. Lathyrism in rural northwestern Ethiopia: A highly prevalent neurotoxic disorder. Int J Epidemiol 1990;19:664-72.
113. Hammer EM, Häcker S, Hautzinger M, Meyer TD, Kübler A. Validity of the ALS-Depression-Inventory (ADI-12)-A new screening instrument for depressive disorders in patients with amyotrophic lateral sclerosis. J Affect Disord 2008;109:213-9.
114. Handy CR, Krudy C, Boulis N, Federici T. Pain in amyotrophic lateral sclerosis: A neglected aspect of disease. Neurol Res Int 2011;2011:403808.
115. Hardiman O, van den Berg LH, Kiernan MC. Clinical diagnosis and management of amyotrophic lateral sclerosis. Nat Rev Neurol 2011;7:639-49.
116. Havins W. Apathy, Depression, and Emotional Lability in Patients with Amyotrophic Lateral Sclerosis. Houston, Texas: Diss University of Houston; 2014.
117. Hayashi H, Kato S. Total manifestations of amyotrophic lateral sclerosis. ALS in the totally locked-in state. J Neurol Sci 1989;93:19-35.
118. He J, Mangelsdorf M, Fan D, Bartlett P, Brown MA. Amyotrophic lateral sclerosis genetic studies: From genomewide association mapping to genome sequencing. Neuroscientist 2014. pii: 1073858414555404.
119. Henriques A, Pitzer C, Schneider A. Neurotrophic growth factors for the treatment of amyotrophic lateral sclerosis: Where do we stand? Front Neurosci 2010;4:32.
120. Honig LS, Chambliss DD, Bigio EH, Carroll SL, Elliott JL. Glutamate transporter EAAT2 splice variants occur not only in ALS, but also in AD and controls. Neurology 2000;55:1082-8.
121. Hortobágyi T, Cairns NJ. Amyotrophic lateral sclerosis and frontotemporal lobar degeneration. Neuropathology of Neurodegenerative Diseases Book and Online. Cambridge University Press; 2014. p. 209.
122. Huang Y, Wu Z, Zhou B. HSOD1 promotes tau phosphorylation and toxicity in the Drosophila model. J Alzheimers Dis 2015;45:235-44.
123. Huisman MH, de Jong SW, van Doormaal PT, Weinreich SS, Schelhaas HJ, van der Kooi AJ, et al. Population based epidemiology of amyotrophic lateral sclerosis using capture-recapture methodology. J Neurol Neurosurg Psychiatry 2011;82:1165-70.
124. Ikenaka K, Katsuno M, Kawai K, Ishigaki S, Tanaka F, Sobue G. Disruption of axonal transport in motor neuron diseases. Int J Mol Sci 2012;13:1225-38.
125. Ikiz B. Unraveling the Molecular Mechanism Underlying ALS-Linked Astrocyte Toxicity for Motor Neurons. PhD diss., Columbia University; 2013.
126. Ilieva H, Polymenidou M, Cleveland DW. Non-cell autonomous toxicity in neurodegenerative disorders: ALS and beyond. J Cell Biol 2009;187:761-72.
127. Ilsemann J, Kollewe K, Dengler R, Krampfl K, Petri S. Analysis of co-morbidities in a database of ALS patients. Aktuelle Neurol 2008;35:P414.
128. Ilzecka J, Stelmasiak Z, Solski J, Wawrzycki S, Szpetnar M. Plasma amino acids concentration in amyotrophic lateral sclerosis patients. Amino Acids 2003;25:69-73.
129. Ivanova MI, Sievers SA, Guenther EL, Johnson LM, Winkler DD, Galaleldeen A, et al. Aggregation-triggering segments of SOD1 fibril formation support a common pathway for familial and sporadic ALS. Proc Natl Acad Sci U S A 2014;111:197-201.
130. Iwasaki Y, Ikeda K, Kinoshita M. Molecular and cellular mechanism of glutamate receptors in relation to amyotrophic lateral sclerosis. Curr Drug Targets CNS Neurol Disord 2002;1:511-8.
131. Jaiswal MK. Calcium, mitochondria, and the pathogenesis of ALS: The good, the bad, and the ugly. Front Cell Neurosci 2013;7:199.
132. Jaiswal MK. Selective vulnerability of motoneuron and perturbed mitochondrial calcium homeostasis in amyotrophic lateral sclerosis: Implications for motoneurons specific calcium dysregulation. Mol Cell Ther 2014;2:26.
133. Johnson FO, Atchison WD. The role of environmental mercury, lead and pesticide exposure in development of amyotrophic lateral sclerosis. Neurotoxicology 2009;30:761-5.
134. Johnson WG. The clinical spectrum of hexosaminidase deficiency diseases. Neurology 1981;31:1453-6.
135. Kabashi E, Bercier V, Lissouba A, Liao M, Brustein E, Rouleau GA, et al. FUS and TARDBP but not SOD1 interact in genetic models of amyotrophic lateral sclerosis. PLoS Genet 2011;7:e1002214.
136. Kadoyama K, Funakoshi H, Ohya W, Nakamura T. Hepatocyte growth factor (HGF) attenuates gliosis and motoneuronal degeneration in the brainstem motor nuclei of a transgenic mouse model of ALS. Neurosci Res 2007;59:446-56.
137. Kaji R, Kodama M, Imamura A, Hashida T, Kohara N, Ishizu M, et al. Effect of ultrahigh-dose methylcobalamin on compound muscle action potentials in amyotrophic lateral sclerosis: A double-blind controlled study. Muscle Nerve 1998;21:1775-8.
138. Kamel F, Umbach DM, Munsat TL, Shefner JM, Hu H, Sandler DP. Lead exposure and amyotrophic lateral sclerosis. Epidemiology 2002;13:311-9.
139. Kang JD, Bohlman HH. Cervical spondylotic myelopathy. Curr Opin Orthop 1996;7:13-21.
140. Kasarskis EJ, Scarlata D, Hill R, Fuller C, Stambler N, Cedarbaum JM. A retrospective study of percutaneous endoscopic gastrostomy in ALS patients during the BDNF and CNTF trials. J Neurol Sci 1999;169:118-25.
141. Kawamata H, Manfredi G. Mitochondrial dysfunction and intracellular calcium dysregulation in ALS. Mech Ageing Dev 2010;131:517-26.
142. Kiaei M, Kipiani K, Calingasan NY, Wille E, Chen J, Heissig B, et al. Matrix metalloproteinase-9 regulates TNF-alpha and FasL expression in neuronal, glial cells and its absence extends life in a transgenic mouse model of amyotrophic lateral sclerosis. Exp Neurol 2007;205:74-81.
143. Kiaei M, Kipiani K, Petri S, Chen J, Calingasan NY, Beal MF. Celastrol blocks neuronal cell death and extends life in transgenic mouse model of amyotrophic lateral sclerosis. Neurodegener Dis 2005;2:246-54.
144. Kiaei M. Peroxisome proliferator-activated receptor-gamma in amyotrophic lateral sclerosis and Huntington's disease. PPAR Res 2008;2008:418765.
145. Kieran D, Hafezparast M, Bohnert S, Dick JR, Martin J, Schiavo G, et al. A mutation in dynein rescues axonal transport defects and extends the life span of ALS mice. J Cell Biol 2005;169:561-7.
146. Kiernan MC, Vucic S, Cheah BC, Turner MR, Eisen A, Hardiman O, et al. Amyotrophic lateral sclerosis. Lancet 2011;377:942-55.
147. Kirkwood SC, Su JL, Conneally P, Foroud T. Progression of symptoms in the early and middle stages of Huntington disease. Arch Neurol 2001;58:273-8.
148. Kirschner A. Spinal Bulbar Muscular Atrophy: Kennedy Disease, Genetic Counseling for Adult Neurogenetic Disease. New York Heiderlberg Dorddrecht London: Springer; 2015. p. 183-93.
149. Klivenyi P, Ferrante RJ, Matthews RT, Bogdanov MB, Klein AM, Andreassen OA, et al. Neuroprotective effects of creatine in a transgenic animal model of amyotrophic lateral sclerosis. Nat Med 1999;5:347-50.
150. Kobayashi M, Ikeda K, Kinoshita M, Iwasaki Y. Amyotrophic lateral sclerosis with supranuclear ophthalmoplegia and rigidity. Neurol Res 1999;21:661-4.
151. Körner S, Kollewe K, Ilsemann J, MüllerHeine A, Dengler R, Krampfl K, et al. Prevalence and prognostic impact of comorbidities in amyotrophic lateral sclerosis. Eur J Neurol 2013;20:647-54.
152. Krakora D, Mulcrone P, Meyer M, Lewis C, Bernau K, Gowing G, et al. Synergistic effects of GDNF and VEGF on lifespan and disease progression in a familial ALS rat model. Mol Ther 2013;21:1602-10.
153. Kübler A, Winter S, Ludolph AC, Hautzinger M, Birbaumer N. Severity of depressive symptoms and quality of life in patients with amyotrophic lateral sclerosis. Neurorehabil Neural Repair 2005;19:182-93.
154. Kühnlein P, Gdynia HJ, Sperfeld AD, Lindner-Pfleghar B, Ludolph AC, Prosiegel M, et al. Diagnosis and treatment of bulbar symptoms in amyotrophic lateral sclerosis. Nat Clin Pract Neurol 2008;4:366-74.
155. Kurlander HM, Patten BM. Metals in spinal cord tissue of patients dying of motor neuron disease. Ann Neurol 1979;6:21-4.
156. Kurt A, Nijboer F, Matuz T, Kübler A. Depression and anxiety in individuals with amyotrophic lateral sclerosis: Epidemiology and management. CNS Drugs 2007;21:279-91.
157. Kurtzke JF. Epidemiology of amyotrophic lateral sclerosis. Adv Neurol 1982;36:281-302.
158. Kuzuhara S, Kokubo Y, Sasaki R, Narita Y, Yabana T, Hasegawa M, et al. Familial amyotrophic lateral sclerosis and parkinsonism-dementia complex of the Kii Peninsula of Japan: Clinical and neuropathological study and tau analysis. Ann Neurol 2001;49:501-11.
159. Kuzuhara S, Kokubo Y. Atypical parkinsonism of Japan: Amyotrophic lateral clerosis-parkinsonism-dementia complex of the Kii peninsula of Japan (Muro disease): An update. Mov Disord 2005;20 Suppl 12:S108-13.
160. Kwiatkowski TJ Jr, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, et al. Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science 2009;323:1205-8.
161. Lacomblez L, Bensimon G, Douillet P, Doppler V, Salachas F, Meininger V. Xaliproden in amyotrophic lateral sclerosis: Early clinical trials. Amyotroph Lateral Scler Other Motor Neuron Disord 2004;5:99-106.
162. Lacomblez L, Bensimon G, Leigh PN, Guillet P, Meininger V. Dose-ranging study of riluzole in amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis/Riluzole Study Group II. Lancet 1996;347:1425-31.
163. Lauria G, Campanella A, Filippini G, Martini A, Penza P, Maggi L, et al. Erythropoietin in amyotrophic lateral sclerosis: A pilot, randomized, doubleblind, placebo-controlled study of safety and tolerability. Amyotroph Lateral Scler 2009;10:410-5.
164. Leigh PN, Abrahams S, Al-Chalabi A, Ampong MA, Goldstein LH, Johnson J, et al. The management of motor neurone disease. J Neurol Neurosurg Psychiatry 2003;74 Suppl 4:iv32-iv47.
165. Leigh PN, Ray-Chaudhuri K. Motor neuron disease. J Neurol Neurosurg Psychiatry 1994;57:886-96.
166. Li M, Ona VO, Guégan C, Chen M, Jackson-Lewis V, Andrews LJ, et al. Functional role of caspase-1 and caspase-3 in an ALS transgenic mouse model. Science 2000;288:335-9.
167. Lin CL, Bristol LA, Jin L, Dykes-Hoberg M, Crawford T, Clawson L, et al. Aberrant RNA processing in a neurodegenerative disease: The cause for absent EAAT2, a glutamate transporter, in amyotrophic lateral sclerosis. Neuron 1998;20:589-602.
168. Liu J, Lillo C, Jonsson PA, Vande Velde C, Ward CM, Miller TM, et al. Toxicity of familial ALS-linked SOD1 mutants from selective recruitment to spinal mitochondria. Neuron 2004;43:5-17.
169. Logroscino G, Traynor BJ, Hardiman O, Chio' A, Couratier P, Mitchell JD, et al. Descriptive epidemiology of amyotrophic lateral sclerosis: New evidence and unsolved issues. J Neurol Neurosurg Psychiatry 2008;79:6-11.
170. Logroscino G, Traynor BJ, Hardiman O, Chiò A, Mitchell D, Swingler RJ, et al. Incidence of amyotrophic lateral sclerosis in Europe. J Neurol Neurosurg Psychiatry 2010;81:385-90.
171. Lomen-Hoerth C, Anderson T, Miller B. The overlap of amyotrophic lateral sclerosis and frontotemporal dementia. Neurology 2002;59:1077-9.
172. Lorenzl S, Narr S, Angele B, Krell HW, Gregorio J, Kiaei M, et al. The matrix metalloproteinases inhibitor Ro 28-2653 [correction of Ro 26-2853] extends survival in transgenic ALS mice. Exp Neurol 2006;200:166-71.
173. Lou JS, Reeves A, Benice T, Sexton G. Fatigue and depression are associated with poor quality of life in ALS. Neurology 2003;60:122-3.
174. Louwerse ES, Weverling GJ, Bossuyt PM, Meyjes FE, de Jong JM. Randomized, double-blind, controlled trial of acetylcysteine in amyotrophic lateral sclerosis. Arch Neurol 1995;52:559-64.
175. Ludolph AC, Hugon J, Dwivedi MP, Schaumburg HH, Spencer PS. Studies on the aetiology and pathogenesis of motor neuron diseases 1. Lathyrism: Clinical findings in established cases. Brain 1987;110 (Pt 1):149-65.
176. Lyall RA, Donaldson N, Polkey MI, Leigh PN, Moxham J. Respiratory muscle strength and ventilatory failure in amyotrophic lateral sclerosis. Brain 2001;124 (Pt 10):2000-13.
177. Magnus T, Beck M, Giess R, Puls I, Naumann M, Toyka KV. Disease progression in amyotrophic lateral sclerosis: Predictors of survival. Muscle Nerve 2002;25:709-14.
178. Magrané J, Manfredi G. Mitochondrial function, morphology, and axonal transport in amyotrophic lateral sclerosis. Antioxid Redox Signal 2009;11:1615-26.
179. Majounie E, Renton AE, Mok K, Dopper EG, Waite A, Rollinson S, et al. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: A cross-sectional study. Lancet Neurol 2012;11:323-30.
180. Manfredi G, Xu Z. Mitochondrial dysfunction and its role in motor neuron degeneration in ALS. Mitochondrion 2005;5:77-87.
181. Martin LJ. Olesoxime, a cholesterol-like neuroprotectant for the potential treatment of amyotrophic lateral sclerosis. IDrugs 2010;13:568-80.
182. Martínez-Sámano J, Torres-Durán PV, Juárez-Oropeza MA, Verdugo-Díaz L. Effect of acute extremely low frequency electromagnetic field exposure on the antioxidant status and lipid levels in rat brain. Arch Med Res 2012;43:183-9.
183. Mathus-Vliegen LM, Louwerse LS, Merkus MP, Tytgat GN, Vianney de Jong JM. Percutaneous endoscopic gastrostomy in patients with amyotrophic lateral sclerosis and impaired pulmonary function. Gastrointest Endosc 1994;40:463-9.
184. Mattson MP. Apoptosis in neurodegenerative disorders. Nat Rev Mol Cell Biol 2000;1:120-9.
185. Mattson MP. Excitation BolsTORs motor neurons in ALS mice. Neuron 2013;80:1-3.
186. Mazzini L, Balzarini C, Colombo R, Mora G, Pastore I, De Ambrogio R, et al. Effects of creatine supplementation on exercise performance and muscular strength in amyotrophic lateral sclerosis: Preliminary results. J Neurol Sci 2001;191:139-44.
187. Mazzini L, Corrà T, Zaccala M, Mora G, Del Piano M, Galante M. Percutaneous endoscopic gastrostomy and enteral nutrition in amyotrophic lateral sclerosis. J Neurol 1995;242:695-8.
188. McDermott C, White K, Bushby K, Shaw P. Hereditary spastic paraparesis: A review of new developments. J Neurol Neurosurg Psychiatry 2000;69:150-60.
189. McDonald ER, Wiedenfeld SA, Hillel A, Carpenter CL, Walter RA. Survival in amyotrophic lateral sclerosis. The role of psychological factors. Arch Neurol 1994;51:17-23.
190. McDonald WI, Compston A, Edan G, Goodkin D, Hartung HP, Lublin FD, et al. Recommended diagnostic criteria for multiple sclerosis: Guidelines from the International Panel on the diagnosis of multiple sclerosis. Ann Neurol 2001;50:121-7.
191. McGuire V, Longstreth WT Jr, Nelson LM, Koepsell TD, Checkoway H, Morgan MS, et al. Occupational exposures and amyotrophic lateral sclerosis. A population-based case-control study. Am J Epidemiol 1997;145:1076-88.
192. Meininger V, Asselain B, Guillet P, Leigh PN, Ludolph A, Lacomblez L, et al. Pentoxifylline in ALS: A double-blind, randomized, multicenter, placebocontrolled trial. Neurology 2006;66:88-92.
193. Meininger V, Drory VE, Leigh PN, Ludolph A, Robberecht W, Silani V. Glatiramer acetate has no impact on disease progression in ALS at 40 mg/day: A double-blind, randomized, multicentre, placebo-controlled trial. Amyotroph Lateral Scler 2009;10:378-83.
194. Mellies U, Ragette R, Schwake C, Baethmann M, Voit T, Teschler H. Sleepdisordered breathing and respiratory failure in acid maltase deficiency. Neurology 2001;57:1290-5.
195. Menon P, Geevasinga N, Yiannikas C, Howells J, Kiernan MC, Vucic S. Sensitivity and specificity of threshold tracking transcranial magnetic stimulation for diagnosis of amyotrophic lateral sclerosis: A prospective study. Lancet Neurol 2015;14:478-84.
196. Menzies FM, Cookson MR, Taylor RW, Turnbull DM, Chrzanowska-Lightowlers ZM, Dong L, et al. Mitochondrial dysfunction in a cell culture model of familial amyotrophic lateral sclerosis. Brain 2002;125 (Pt 7):1522-33.
197. Michal Freedman D, Kuncl RW, Weinstein SJ, Malila N, Virtamo J, Albanes D. Vitamin E serum levels and controlled supplementation and risk of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Frontotemporal Degener 2013;14:246-51.
198. Millan MJ. The induction of pain: An integrative review. Prog Neurobiol 1999;57:1-164.
199. Miller R, Mitchell JD, Moore DH. Riluzole for amyotrophic lateral sclerosis (ALS)/motor neuron disease (MND). Cochrane Database of Systematic Reviews 2012;(3):CD001447. DOI: 10.1002/14651858.CD001447.pub3.
200. Miller RG, Bradley W, Cudkowicz M, Meininger V, Mitsumoto H, Sauer D, et al. Phase II/III controlled trial of TCH 346 in patients with amyotrophic lateral sclerosis. Neurology 2007; 69:776-84.
201. Miller RG, Jackson CE, Kasarskis EJ, England JD, Forshew D, Johnston W, et al. Practice parameter update: The care of the patient with amyotrophic lateral sclerosis: Drug, nutritional, and respiratory therapies (an evidence-based review): Report of the Quality Standards Subcommittee of the American Academy of Neurology. Neurology 2009;73:1218-26.
202. Miller RG, Petajan JH, Bryan WW, Armon C, Barohn RJ, Goodpasture JC, et al. A placebo-controlled trial of recombinant human ciliary neurotrophic (rhCNTF) factor in amyotrophic lateral sclerosis. rhCNTF ALS Study Group. Ann Neurol 1996;39:256-60.
203. Mills KR. Detecting fasciculations in amyotrophic lateral sclerosis: Duration of observation required. J Neurol Neurosurg Psychiatry 2011;82:549-51.
204. Millul A, Beghi E, Logroscino G, Micheli A, Vitelli E, Zardi A. Survival of patients with amyotrophic lateral sclerosis in a population-based registry. Neuroepidemiology 2005;25:114-9.
205. Mitchell JD, Borasio GD. Amyotrophic lateral sclerosis. Lancet 2007;369:2031-41.
206. Mitchell JD. Amyotrophic lateral sclerosis: Toxins and environment. Amyotroph Lateral Scler 2000;1:235-50.
207. Mitsumoto H, Factor-Litvak P, Andrews H, Goetz RR, Andrews L, Rabkin JG, et al. ALS Multicenter Cohort Study of Oxidative Stress (ALS COSMOS): Study methodology, recruitment, and baseline demographic and disease characteristics. Amyotroph Lateral Scler Frontotemporal Degener 2014;15:192-203.
208. Mitsumoto H. Diagnosis and progression of ALS. Neurology 1997;48 Suppl 4:2S-8S.
209. Molina JA, de Bustos F, Jiménez-Jiménez FJ, Gómez-Escalonilla C, García-Redondo A, Esteban J, et al. Serum levels of coenzyme Q10 in patients with amyotrophic lateral sclerosis. J Neural Transm 2000;107:1021-6.
210. Mórotz GM, De Vos KJ, Vagnoni A, Ackerley S, Shaw CE, Miller CC. Amyotrophic lateral sclerosis-associated mutant VAPBP56S perturbs calcium homeostasis to disrupt axonal transport of mitochondria. Hum Mol Genet 2012;21:1979-88.
211. Morozova N, Weisskopf MG, McCullough ML, Munger KL, Calle EE, Thun MJ, et al. Diet and amyotrophic lateral sclerosis. Epidemiology 2008;19:324-37.
212. Moser HW, Moser AB, Naidu S, Bergin A. Clinical aspects of adrenoleukodystrophy and adrenomyeloneuropathy. Dev Neurosci 1991;13:254-61.
213. Motor Neuron Diseases Fact Sheet: National Institute of Neurological Disorders and Stroke (NINDS). November, 2010. Available from: http://www. ninds.nih.gov. [Last accessed on 2015 Mar 24].
214. Namba T, Nolte CT, Jackrel J, Grob D. Poisoning due to organophosphate insecticides. Acute and chronic manifestations. Am J Med 1971;50:475-92.
215. Nefussy B, Artamonov I, Deutsch V, Naparstek E, Nagler A, Drory VE. Recombinant human granulocyte-colony stimulating factor administration for treating amyotrophic lateral sclerosis: A pilot study. Amyotroph Lateral Scler 2009;15:1-7.
216. Nelson LM, Matkin C, Longstreth WT Jr, McGuire V. Population-based casecontrol study of amyotrophic lateral sclerosis in western Washington State. II. Diet. Am J Epidemiol 2000;151:164-73.
217. Newrick PG, Langton-Hewer R. Pain in motor neuron disease. J Neurol Neurosurg Psychiatry 1985;48:838-40.
218. Nobile-Orazio E. Multifocal motor neuropathy. J Neuroimmunol 2001;115:4-18.
219. Norris FH, Sachais B, Carey M. Trial of baclofen in amyotrophic lateral sclerosis. Archives of Neurology 1979;36:715-6.
220. Ochs G, Penn RD, York M, Giess R, Beck M, Tonn J, et al. A phase I/II trial of recombinant methionyl human brain derived neurotrophic factor administered by intrathecal infusion to patients with amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord 2000;1:201-6.
221. Offen D, Barhum Y, Melamed E, Embacher N, Schindler C, Ransmayr G. Spinal cord mRNA profile in patients with ALS: Comparison with transgenic mice expressing the human SOD-1 mutant. J Mol Neurosci 2009;38:85-93.
222. Okuda B, Yamamoto T, Yamasaki M, Maya K, Imai T. Motor neuron disease with slow eye movements and vertical gaze palsy. Acta Neurol Scand 1992;85:71-6.
223. Oliver D. The quality of care and symptom control-The effects on the terminal phase of ALS/MND. J Neurol Sci 1996;139 Suppl: 134-6.
224. Orrell RW, Lane JM, Ross MA. Antioxidant treatment for amyotrophic lateral sclerosis or motor neuron disease. Cochrane Database of Systematic Reviews 2007;(1):CD002829. DOI: 10.1002/14651858.CD002829.pub4.
225. Orrell RW, Lane RJ, Ross M. A systematic review of antioxidant treatment for amyotrophic lateral sclerosis/motor neuron disease. Amyotroph Lateral Scler 2008;9:195-211.
226. Orrell RW. AEOL-10150 (Aeolus). Curr Opin Investig Drugs 2006;7:70-80.
227. Orrell RW. Motor neuron disease: Systematic reviews of treatment for ALS and SMA. Br Med Bull 2010;93:145-59.
228. O'Toole O, Traynor BJ, Brennan P, Sheehan C, Frost E, Corr B, et al. Epidemiology and clinical features of amyotrophic lateral sclerosis in Ireland between 1995 and 2004. J Neurol Neurosurg Psychiatry 2008;79:30-2.
229. Palomo GM, Manfredi G. Exploring new pathways of neurodegeneration in ALS: The role of mitochondria quality control. Brain Res 2015;1607:36-46.
230. Panjabi MM. A hypothesis of chronic back pain: Ligament subfailure injuries lead to muscle control dysfunction. Eur Spine J 2006;15:668-76.
231. Parboosingh JS, Figlewicz DA, Krizus A, Meininger V, Azad NA, Newman DS, et al. Spinobulbar muscular atrophy can mimic ALS: The importance of genetic testing in male patients with atypical ALS. Neurology 1997;49:568-72.
232. Pascuzzi RM, Shefner J, Chappell AS, Bjerke JS, Tamura R, Chaudhry V, et al. A phase II trial of talampanel in subjects with amyotrophic lateral sclerosis. Amyotroph Lateral Scler 2010;11:266-71.
233. Pasinelli P, Belford ME, Lennon N, Bacskai BJ, Hyman BT, Trotti D, et al. Amyotrophic lateral sclerosis-associated SOD1 mutant proteins bind and aggregate with Bcl-2 in spinal cord mitochondria. Neuron 2004;43:19-30.
234. Pasinelli P, Brown RH. Molecular biology of amyotrophic lateral sclerosis: Insights from genetics. Nat Rev Neurosci 2006;7:710-23.
235. Pfeffer G, Povitz M, Gibson GJ, Chinnery PF. Diagnosis of muscle diseases presenting with early respiratory failure. J Neurol 2015;262:1101-14.
236. Phillips JL, Ivaschuk O, Ishida-Jones T, Jones RA, Campbell-Beachler M, Haggren W. DNA damage in Molt-4 Tlymphoblastoid cells exposed to cellular telephone radiofrequency fields in vitro. Bioelectrochem Bioenerg 1998;45:103-10.
237. Piepers S, Veldink JH, de Jong SW, van der Tweel I, van der Pol WL, Uijtendaal EV, et al. Randomized sequential trial of valproic acid in amyotrophic lateral sclerosis. Ann Neurol 2009;66:227-34.
238. Polkey MI, Lyall RA, Moxham J, Leigh PN. Respiratory aspects of neurological disease. J Neurol Neurosurg Psychiatry 1999;66:5-15.
239. Polymenidou M, Lagier-Tourenne C, Hutt KR, Bennett CF, Cleveland DW, Yeo GW. Misregulated RNA processing in amyotrophic lateral sclerosis. Brain Res 2012;1462:3-15.
240. Przedborski S, Vila M, Jackson-Lewis V. Neurodegeneration: What is it and where are we? J Clin Invest 2003;111:3-10.
241. Pujol A, Hindelang C, Callizot N, Bartsch U, Schachner M, Mandel JL. Late onset neurological phenotype of the X-ALD gene inactivation in mice: A mouse model for adrenomyeloneuropathy. Hum Mol Genet 2002;11:499-505.
242. Rabkin JG, Albert SM, Del Bene ML, O'Sullivan I, Tider T, Rowland LP, et al. Prevalence of depressive disorders and change over time in late-stage ALS. Neurology 2005;65:62-7.
243. Radunovic A, Mitsumoto H, Leigh PN. Clinical care of patients with amyotrophic lateral sclerosis. Lancet Neurol 2007;6:913-25.
244. Ramirez C, Piemonte ME, Callegaro D, Da Silva HC. Fatigue in amyotrophic lateral sclerosis: Frequency and associated factors. Amyotroph Lateral Scler 2008;9:75-80.
245. Reis-Filho J. Next-generation sequencing. Breast Cancer Res 2009;11:S12.
246. Riolo SA, Nguyen TA, Greden JF, King CA. Prevalence of depression by race/ethnicity: Findings from the National Health and Nutrition Examination Survey III. Am J Public Health 2005;95:998-1000.
247. Riviere M, Meininger V, Zeisser P, Munsat T. An analysis of extended survival in patients with amyotrophic lateral sclerosis treated with riluzole. Arch Neurol 1998;55:526-8.
248. Rizzo F, Riboldi G, Salani S, Nizzardo M, Simone C, Corti S, et al. Cellular therapy to target neuroinflammation in amyotrophic lateral sclerosis. Cell Mol Life Sci 2014;71:999-1015.
249. Rollins YD, Oskarsson B, Ringel SP. Primary lateral sclerosis. Blackwell Publishing Ltd; 2009. p. 203.
250. Rosenow EC 3rd, Engel AG. Acid maltase deficiency in adults presenting as respiratory failure. Am J Med 1978;64:485-91.
251. Rowland LP, Shneider NA. Amyotrophic lateral sclerosis. N Engl J Med 2001;344:1688-700.
252. Rowland LP. Diagnosis of amyotrophic lateral sclerosis. J Neurol Sci 1998;160 Suppl 1:S6-24.
253. Ryberg H, Askmark H, Persson LI. A double-blind randomized clinical trial in amyotrophic lateral sclerosis using lamotrigine: Effects on CSF glutamate, aspartate, branched-chain amino acid levels and clinical parameters. Acta Neurol Scand 2003;108:1-8.
254. Saccon RA, Bunton-Stasyshyn RK, Fisher EM, Fratta P. Is SOD1 loss of function involved in amyotrophic lateral sclerosis? Brain 2013;136 (Pt 8):2342-58.
255. Saeed M, Yang Y, Deng HX, Hung WY, Siddique N, Dellefave L, et al. Age and founder effect of SOD1 A4V mutation causing ALS. Neurology 2009;72:1634-9.
256. Said G. Chronic inflammatory demyelinating polyneuropathy. Neuromuscul Disord 2006;16:293-303.
257. Salajegheh M, Bryan WW, Dalakas MC. The challenge of diagnosing ALS in patients with prior poliomyelitis. Neurology 2006;67:1078-9.
258. Sanjak M, Konopacki R, Capasso R, Roelke KA, Peper SM, Houdek AM, et al. Dissociation between mechanical and myoelectrical manifestation of muscle fatigue in amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord 2004;5:26-32.
259. Sasaki S, Iwata M. Mitochondrial alterations in the spinal cord of patients with sporadic amyotrophic lateral sclerosis. J Neuropathol Exp Neurol 2007;66:10-6.
260. Sau D, De Biasi S, Vitellaro-Zuccarello L, Riso P, Guarnieri S, Porrini M, et al. Mutation of SOD1 in ALS: A gain of a loss of function. Hum Mol Genet 2007;16:1604-18.
261. Savolainen KM, Loikkanen J, Eerikäinen S, Naarala J. Interactions of excitatory neurotransmitters and xenobiotics in excitotoxicity and oxidative stress: Glutamate and lead. Toxicol Lett 1998;102-103:363-7.
262. Schrooten M, Smetcoren C, Robberecht W, Van Damme P. Benefit of the Awaji diagnostic algorithm for amyotrophic lateral sclerosis: A prospective study. Ann Neurol 2011;70:79-83.
263. Shaw PJ, Eggett CJ. Molecular factors underlying selective vulnerability of motor neurons to neurodegeneration in amyotrophic lateral sclerosis. J Neurol 2000;247 Suppl 1:I17-27.
264. Sheng ZH, Cai Q. Mitochondrial transport in neurons: Impact on synaptic homeostasis and neurodegeneration. Nat Rev Neurosci 2012;13:77-93.
265. Shi P, Ström AL, Gal J, Zhu H. Effects of ALS-related SOD1 mutants on dynein-and KIF5-mediated retrograde and anterograde axonal transport. Biochim Biophys Acta 2010;1802:707-16.
266. Shigeri Y, Seal RP, Shimamoto K. Molecular pharmacology of glutamate transporters, EAATs and VGLUTs. Brain Res Rev 2004;45:250-65.
267. Shin JH, Lee JK. Multiple Routes of Motor Neuron Degeneration in ALS. In: Current Advances in Amyotrophic Lateral Sclerosis. Alvaro Estévez (Editor). InTech 2013. ISBN: 978-953-51-1195-5, DOI: 10.5772/56625.
268. Shoemaker JL, Seely KA, Reed RL, Crow JP, Prather PL. The CB2 cannabinoid agonist AM-1241 prolongs survival in a transgenic mouse model of amyotrophic lateral sclerosis when initiated at symptom onset. J Neurochem 2007;101:87-98.
269. Simkó M, Mattsson MO. Extremely low frequency electromagnetic fields as effectors of cellular responses in vitro: Possible immune cell activation. J Cell Biochem 2004;93:83-92.
270. Simmons Z. Management strategies for patients with amyotrophic lateral sclerosis from diagnosis through death. Neurologist 2005;11:257-70.
271. Simons TJ. Cellular interactions between lead and calcium. Br Med Bull 1986;42:431-4.
272. Simpson EP, Henry YK, Henkel JS, Smith RG, Appel SH. Increased lipid peroxidation in sera of ALS patients: A potential biomarker of disease burden. Neurology 2004;62:1758-65.
273. Simpson EP, Yen AA, Appel SH. Oxidative Stress: A common denominator in the pathogenesis of amyotrophic lateral sclerosis. Curr Opin Rheumatol 2003;15:730-6.
274. Singer MA, Statland JM, Wolfe GI, Barohn RJ. Primary lateral sclerosis. Muscle Nerve 2007;35:291-302.
275. Singerman J, Lee L. Consistency of the Babinski reflex and its variants. Eur J Neurol 2008;15:960-4.
276. Smith QR, Momma S, Aoyagi M, Rapoport SI. Kinetics of neutral amino acid transport across the blood-brain barrier. J Neurochem 1987;49:1651-8.
277. Smith RG, Henry YK, Mattson MP, Appel SH. Presence of 4-hydroxynonenal in cerebrospinal fluid of patients with sporadic amyotrophic lateral sclerosis. Ann Neurol 1998;44:696-9.
278. Sorenson EJ, Windbank AJ, Mandrekar JN, Bamlet WR, Appel SH, Armon C, et al. Subcutaneous IGF-1 is not beneficial in 2-year ALS trial. Neurology 2008;71:1770-5.
279. Spencer JP, Jenner A, Butler J, Aruoma OI, Dexter DT, Jenner P, et al. Evaluation of the pro-oxidant and antioxidant actions of L-DOPA and dopamine in vitro: Implications for Parkinson's disease. Free Radic Res 1996;24:95-105.
280. Steele AD, Yi CH. Neuromuscular denervation: Bax up against the wall in amyotrophic lateral sclerosis. J Neurosci 2006;26:12849-51.
281. Stefanutti D, Benoist MR, Scheinmann P, Chaussain M, Fitting JW. Usefulness of sniff nasal pressure in patients with neuromuscular or skeletal disorders. Am J Respir Crit Care Med 2000;162 (4 Pt 1):1507-11.
282. Stommel EW, Cohen JA, Fadul CE, Cogbill CH, Graber DJ, Kingman L, et al. Efficacy of thalidomide for the treatment of amyotrophic lateral sclerosis: A phase II open label clinical trial. Amyotroph Lateral Scler 2009;10:393-404.
283. Sundaram RS, Gowtham L, Nayak BS. The role of excitatory neurotransmitter glutamate in brain physiology and pathology. Asian J Pharm Clin Res 2012;5:1-7.
284. Suzuki M, McHugh J, Tork C, Shelley B, Klein SM, Aebischer P, et al. GDNF secreting human neural progenitor cells protect dying motor neurons, but not their projection to muscle, in a rat model of familial ALS. PLoS One 2007;2:e689.
285. Talbot K. Motor neuron disease: The bare essentials. Pract Neurol 2009;9:303-9.
286. Talbot K. Motor neurone disease. Postgrad Med J 2002;78:513-9.
287. Tedman BM, Young CA, Williams IR. Assessment of depression in patients with motor neuron disease and other neurologically disabling illness. J Neurol Sci 1997;152 Suppl 1:S75-9.
288. Thaisetthawatkul P, Logigian EL, Herrmann DN. Dispersion of the distal compound muscle action potential as a diagnostic criterion for chronic inflammatory demyelinating polyneuropathy. Neurology 2002;59:1526-32.
289. Ticozzi N, Vance C, Leclerc AL, Keagle P, Glass JD, McKenna-Yasek D, et al. Mutational analysis reveals the FUS homolog TAF15 as a candidate gene for familial amyotrophic lateral sclerosis. Am J Med Genet B Neuropsychiatr Genet 2011;156B: 285-90.
290. Tokuda E, Ono S, Ishige K, Watanabe S, Okawa E, Ito Y, et al. Ammonium tetrathiomolybdate delays onset, prolongs survival, and slows progression of disease in a mouse model for amyotrophic lateral sclerosis. Exp Neurol 2008;213:122-8.
291. Tortarolo M, Veglianese P, Calvaresi N, Botturi A, Rossi C, Giorgini A, et al. Persistent activation of p38 mitogen-activated protein kinase in a mouse model of familial amyotrophic lateral sclerosis correlates with disease progression. Mol Cell Neurosci 2003;23:180-92.
292. Tovar-Y-Romo LB, Zepeda A, Tapia R. Vascular endothelial growth factor prevents paralysis and motoneuron death in a rat model of excitotoxic spinal cord neurodegeneration. J Neuropathol Exp Neurol 2007;66:913-22.
293. Traynor BJ, Alexander M, Corr B, Frost E, Hardiman O. Effect of a multidisciplinary amyotrophic lateral sclerosis (ALS) clinic on ALS survival: A population based study, 1996-2000. J Neurol Neurosurg Psychiatry 2003;74:1258-61.
294. Traynor BJ, Bruijn L, Conwit R, Beal F, O'Neill G, Fagan SC, et al. Neuroprotective agents for clinical trials in ALS: A systematic assessment. Neurology 2006;67:20-7.
295. Traynor BJ, Codd MB, Corr B, Forde C, Frost E, Hardiman O. Amyotrophic lateral sclerosis mimic syndromes: A population-based study. Arch Neurol 2000;57:109-13.
296. Trias E, Díaz-Amarilla P, Olivera-Bravo S, Isasi E, Drechsel DA, Lopez N, et al. Phenotypic transition of microglia into astrocyte-like cells associated with disease onset in a model of inherited ALS. Front Cell Neurosci 2013;7:274.
297. Trotti D, Rolfs A, Danbolt NC, Brown RH Jr, Hediger MA. SOD1 mutants linked to amyotrophic lateral sclerosis selectively inactivate a glial glutamate transporter. Nat Neurosci 1999;2:427-33.
298. Turner MR, Wotton C, Talbot K, Goldacre MJ. Cardiovascular fitness as a risk factor for amyotrophic lateral sclerosis: Indirect evidence from record linkage study. J Neurol Neurosurg Psychiatry 2012;83:395-8.
299. Valdmanis PN, Rouleau GA. Genetics of familial amyotrophic lateral sclerosis. Neurology 2008;70:144-52.
300. Van den Berg JP, Kalmijn S, Lindeman E, Veldink JH, de Visser M, Van der Graaff MM, et al. Multidisciplinary ALS care improves quality of life in patients with ALS. Neurology 2005;65:1264-7.
301. Van den Berg-Vos RM, Visser J, Kalmijn S, Fischer K, de Visser M, de Jong V, et al. A long-term prospective study of the natural course of sporadic adultonset lower motor neuron syndromes. Arch Neurol 2009;66:751-7.
302. Van Den Bosch L, Schwaller B, Vleminckx V, Meijers B, Stork S, Ruehlicke T, et al. Protective effect of parvalbumin on excitotoxic motor neuron death. Exp Neurol 2002;174:150-61.
303. van Es MA, Veldink JH, Saris CG, Blauw HM, van Vught PW, Birve A, et al. Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. Nat Genet 2009;41:1083-7.
304. Vande Velde C, Miller TM, Cashman NR, Cleveland DW. Selective association of misfolded ALS-linked mutant SOD1 with the cytoplasmic face of mitochondria. Proc Natl Acad Sci U S A 2008;105:4022-7.
305. Vázquez MC, Ketzoián C, Legnani C, Rega I, Sánchez N, Perna A, et al. Incidence and prevalence of amyotrophic lateral sclerosis in Uruguay: A populationbased study. Neuroepidemiology 2008;30:105-11.
306. Veldink JH, Kalmijn S, Groeneveld GJ, Wunderink W, Koster A, de Vries JH, et al. Intake of polyunsaturated fatty acids and Vitamin E reduces the risk of developing amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry 2007;78:367-71.
307. Vielhaber S, Winkler K, Kirches E, Kunz D, Büchner M, Feistner H, et al. Visualization of defective mitochondrial function in skeletal muscle fibers of patients with sporadic amyotrophic lateral sclerosis. J Neurol Sci 1999;169:133-9.
308. Vijayvergiya C, Beal MF, Buck J, Manfredi G. Mutant superoxide dismutase 1 forms aggregates in the brain mitochondrial matrix of amyotrophic lateral sclerosis mice. J Neurosci 2005;25:2463-70.
309. Vincent A, Bowen J, Newsom-Davis J, McConville J. Seronegative generalised myasthenia gravis: Clinical features, antibodies, and their targets. Lancet Neurol 2003;2:99-106.
310. Visser J, van den Berg-Vos RM, Franssen H, van den Berg LH, Wokke JH, de Jong JM, et al. Disease course and prognostic factors of progressive muscular atrophy. Arch Neurol 2007;64:522-8.
311. von Campenhausen S, Bornschein B, Wick R, Bötzel K, Sampaio C, Poewe W, et al. Prevalence and incidence of Parkinson's disease in Europe. Eur Neuropsychopharmacol 2005;15:473-90.
312. Vucic S, Kiernan MC. Abnormalities in cortical and peripheral excitability in flail arm variant amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry 2007;78:849-52.
313. Vucic S, Rothstein JD, Kiernan MC. Advances in treating amyotrophic lateral sclerosis: Insights from pathophysiological studies. Trends Neurosci 2014;37:433-42.
314. Waibel S, Reuter A, Malessa S, Blaugrund E, Ludolph AC. Rasagiline alone and in combination with riluzole prolongs survival in an ALS mouse model. J Neurol 2004;251:1080-4.
315. Wang H, O'Reilly ÉJ, Weisskopf MG, Logroscino G, McCullough ML, Schatzkin A, et al. Vitamin E intake and risk of amyotrophic lateral sclerosis: A pooled analysis of data from 5 prospective cohort studies. Am J Epidemiol 2011;173:595-602.
316. Wang SJ, Wang KY, Wang WC. Mechanisms underlying the riluzole inhibition of glutamate release from rat cerebral cortex nerve terminals (synaptosomes). Neuroscience 2004;125:191-201.
317. Wang W, Zhang F, Li L, Tang F, Siedlak SL, Fujioka H, et al. MFN2 couples glutamate excitotoxicity and mitochondrial dysfunction in motor neurons. J Biol Chem 2015;290:168-82.
318. Weisskopf MG, Morozova N, O'Reilly EJ, McCullough ML, Calle EE, Thun MJ, et al. Prospective study of chemical exposures and amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry 2009;80:558-61.
319. Weisskopf MG. Formaldehyde exposure and amyotrophic lateral sclerosis. In: Enironmental and Molecular Mutagensis. Vol. 55. NJ USA: Wiley-Blackwell 2014. p. S25.
320. Welty DF, Schielke GP, Rothstein JD. Potential treatment of amyotrophic lateral sclerosis with gabapentin: A hypothesis. Ann Pharmacother 1995;29:1164-7.
321. Wenning GK, Colosimo C, Geser F, Poewe W. Multiple system atrophy. Lancet Neurol 2004;3:93-103.
322. Wicks P, Abrahams S, Masi D, Hejda-Forde S, Leigh PN, Goldstein LH. Prevalence of depression in a 12-month consecutive sample of patients with ALS. Eur J Neurol 2007;14:993-1001.
323. Wijesekera LC, Leigh PN. Amyotrophic lateral sclerosis. Orphanet J Rare Dis 2009;4:3.
324. Williamson TL, Cleveland DW. Slowing of axonal transport is a very early event in the toxicity of ALS-linked SOD1 mutants to motor neurons. Nat Neurosci 1999;2:50-6.
325. World Health Organization. Global Health Observatory (GHO) Data-Germany: Country Profiles, 2014. Available from: http://www.who.int/gho/countries/deu/country-profiles/en/. [Last accessed on 2015 Mar 24]
326. Worms PM. The epidemiology of motor neuron diseases: A review of recent studies. J Neurol Sci 2001;191:3-9.
327. Yang J, Wang Q, Lin L, Wang D, Zheng H, Guan Y. Comparison of clinical and physiological characteristics between Kennedy disease and amyotrophic lateral sclerosis. Nan Fang Yi Ke Da Xue Xue Bao 2014;34:1688-92.
328. Yoshino H, Kimura A. Investigation of the therapeutic effects of edaravone, a free radical scavenger, on amyotrophic lateral sclerosis (Phase II study). Amyotroph Lateral Scler 2006;7:241-5.
329. Yu Y, Hayashi S, Cai X, Fang C, Shi W, Tsutsui H, et al. Pu-erh tea extract induces the degradation of FET family proteins involved in the pathogenesis of amyotrophic lateral sclerosis. Biomed Res Int 2014;2014:254680.
330. Zhou H, Chen G, Chen C, Yu Y, Xu Z. Association between extremely low-frequency electromagnetic fields occupations and amyotrophic lateral sclerosis: A meta-analysis. PLoS One 2012;7:e48354.
331. Zhu YB, Sheng ZH. Increased axonal mitochondrial mobility does not slow amyotrophic lateral sclerosis (ALS)-like disease in mutant SOD1 mice. J Biol Chem 2011;286:23432-40.
332. Zoccolella S, Beghi E, Palagano G, Fraddosio A, Guerra V, Samarelli V, et al. Analysis of survival and prognostic factors in amyotrophic lateral sclerosis: A population based study. J Neurol Neurosurg Psychiatry 2008;79:33-7.
333. Zoccolella S, Santamato A, Lamberti P. Current and emerging treatments for amyotrophic lateral sclerosis. Neuropsychiatr Dis Treat 2009;5:577-95.