Amyotrophic lateral sclerosis: Pathophysiology, diagnosis and management

CNS Drugs

Volumn 25, Issue 1, 2011, Pages 1-15

  Gordon, Paul H ^a  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

Amyotrophic lateral sclerosis; Analgesics, therapeutic use; Antidepressants, therapeutic use; Antispastics, therapeutic use; Benzodiazepines, therapeutic use; Botulinum toxin, therapeutic use; Central nervous system stimulants, therapeutic use; Cholinergic receptor antagonists, therapeutic use; Dextromethorphan, therapeutic use; Hypnosedatives, therapeutic use; Riluzole, therapeutic use.

Indexed keywords

ALPHA TOCOPHEROL; AMANTADINE; AMFEBUTAMONE; AMITRIPTYLINE; ATROPINE; BACLOFEN; BENZODIAZEPINE DERIVATIVE; BUSPIRONE; DANTROLENE; DIAZEPAM; DIPHENHYDRAMINE; FLUOXETINE; GLYCOPYRRONIUM BROMIDE; LORAZEPAM; METHYLPHENIDATE; MIRTAZAPINE; MODAFINIL; OXYBUTYNIN; PEMOLINE; PHENYTOIN; PLACEBO; PNEUMOCOCCUS VACCINE; PYRIDOSTIGMINE; RILUZOLE; SCOPOLAMINE; SEROTONIN UPTAKE INHIBITOR; TIZANIDINE; TOLTERODINE; TRICYCLIC ANTIDEPRESSANT AGENT; UNINDEXED DRUG; VENLAFAXINE;

AMYOTROPHIC LATERAL SCLEROSIS; ANOREXIA; ANXIETY DISORDER; APOPTOSIS; BEDTIME DOSAGE; BREATHING; CLINICAL FEATURE; CLINICAL TRIAL; COGNITIVE DEFECT; CONSTIPATION; DEPRESSION; DIAGNOSTIC TEST; DIARRHEA; DISEASE COURSE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DIZZINESS; DRUG BLOOD LEVEL; DRUG COST; DRUG DOSE INCREASE; DRUG DOSE TITRATION; DRUG EFFICACY; DRUG METABOLISM; DRUG SAFETY; DYSPHAGIA; ELECTROMYOGRAM; ENVIRONMENTAL EXPOSURE; EXCITOTOXICITY; FATIGUE; FORCED EXPIRATORY VOLUME; GASTROSTOMY; GENETIC DISORDER; GENETIC RISK; HEALTH CARE COST; HEART PALPITATION; HUMAN; HYPERSALIVATION; INFLAMMATION; MENTAL INSTABILITY; MORNING DOSAGE; MUSCLE CRAMP; MUSCLE WEAKNESS; NAUSEA; NUCLEAR MAGNETIC RESONANCE IMAGING; NUTRITION; OFF LABEL DRUG USE; PALLIATIVE THERAPY; PATHOPHYSIOLOGY; PRIORITY JOURNAL; PROTEIN AGGREGATION; QUALITY OF LIFE; RESPIRATORY DISTRESS; RESPIRATORY FAILURE; RESTLESSNESS; REVIEW; SEDATION; SENSORY NEUROPATHY; SIDE EFFECT; SLEEP DISORDER; SOMNOLENCE; SPASTICITY; STRETCHING EXERCISE; TRANSCRANIAL MAGNETIC STIMULATION; TREATMENT DURATION; TREATMENT INDICATION; URINARY URGENCY;

AMYOTROPHIC LATERAL SCLEROSIS; ANIMALS; HUMANS; NEUROPROTECTIVE AGENTS; RILUZOLE;

EID: 78649816445     PISSN: 11727047     EISSN: 11791934     Source Type: Journal    
DOI: 10.2165/11586000-000000000-00000     Document Type: Review

References (82)

1. Logroscino G, Traynor BJ, Hardiman O, et al. Incidence of amyotrophic lateral sclerosis in Europe. J Neurol Neuro-surg Psychiatry 2010; 81: 385-90.
2. Rowland LP, Shneider NA. Amyotrophic lateral sclerosis. N Engl J Med 2001 May 31; 344 (22): 1688-700.
3. Nelson LM, McGuire V, Longstreth WT, et al. Population- based case-control study of amyotrophic lateral sclerosis in western Washington state: I. Cigarette smoking and alcohol consumption. Am J Epidemiol 2000; 151: 156-63.
4. Horner RD, Kamins KG, Feussner JR, et al. Occurrence of amyotrophic lateral sclerosis among Gulf War veterans. Neurology 2003; 61: 742-9.
5. Gallo V, Bueno-De-Mesquita HB, Vermeulen R, et al. Smoking and risk for amyotrophic lateral sclerosis: analysis of the EPIC cohort. Ann Neurol 2009; 65: 378-85.
6. Weisskopf MG, Ascherio A. Cigarettes and amyotrophic lateral sclerosis: only smoke or also fire? Ann Neurol 2009; 65: 361-2.
7. McGuire V, Longstreth WT, Nelson LM, et al. Occupa- tional exposures and amyotrophic lateral sclerosis: a population-based case-control study. Am J Epidemiol 1997; 145: 1076-88.
8. Scarmeas N, Shih T, Stern Y, et al. Premorbid weight, body mass, and varsity athletics in ALS. Neurology 2002; 59: 773-5.
9. Dion PA, Daoud H, Rouleau GA. Genetics of motor neuron disorders: new insights into pathogenic mechanisms. Nature Rev 2009; 10: 769-82.
10. Gurney ME, Pu H, Chiu AY, et al. Motor neuron degen- eration in mice that express a human Cu,Zn superoxide dismutase mutation. Science 1994; 264: 1772-5.
11. Millecamps S, Salachas F, Cazeneuve C, et al. SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyo-trophic lateral sclerosis: genotype-phenotype correlations. J Med Genet 2010; 47: 554-60.
12. Majoor-Krakauer D, Ottman R, Johnson WG, et al. Famil- ial aggregation of amyotrophic lateral sclerosis, dementia, and Parkinson's disease: evidence of shared genetic susceptibility. Neurology 1994; 44: 1872-7.
13. Chio A, Schymick JC, Restagno G, et al. A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis. Hum Mol Genet 2009; 18: 1524-32.
14. Neumann M, Sampathu DM, Kwong LK, et al. Uniquiti- nated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 2006; 314: 130-3.
15. Sreedharan J, Blair IP, Tripathi VB, et al. TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science 2008; 319: 1668-72.
16. Strong MJ. The syndromes of frontotemporal dysfunction in amyotrophic lateral sclerosis. Amyotroph Lateral Scler 2008; 9: 323-38.
17. Rothstein JD. Current hypotheses for the underlying biol- ogy of amyotrophic lateral sclerosis. Ann Neurol 2009; 65 Suppl.: S3-9.
18. Bhatt JM, Gordon PH. Current clinical trials in amyo- trophic lateral sclerosis. Expert Opin Investig Drugs 2007; 16: 1197-207.
19. Gubbay SS, Kahana E, Zilber N, et al. Amyotrophic lateral sclerosis: a study of it presentation and prognosis. J Neurol 1985; 232: 295-300.
20. Lomen-Hoerth C, Murphy J, Langmore S, et al. Are amyotrophic lateral sclerosis patients cognitively normal? Neurology 2003; 60: 1094-7.
21. Olney RK, Murphy J, Forshew D, et al. The effects of ex- ecutive and behavioral dysfunction on the course of ALS. Neurology 2005; 65: 1774-7.
22. Haymaker W, Hartwif K. Disorders of the brainstem and its cranial nerves. In: Baker AB, Joynt RJ, editors. Clinical neurology. Vol. 3. Philadelphia (PA): JB Lippincott Company, 1988: 815-56.
23. Judt T. Night. In: Silvers RB, editor. The New York review of books. New York: Random House, 2010.
24. Brooks BR, Miller RG, Swash M, et al. El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph lateral Scler Other Motor Neuron Disord 2000; 1: 293-9.
25. Mitsumoto H, Ulug AM, Pullman SL, et al. Quantitative objective markers for upper and lower motor neuron dysfunction in ALS. Neurology 2007; 68: 1402-10.
26. Traynor BJ, Alexander M, Corr B, et al. Effect of a multi- disciplinary amyotrophic lateral sclerosis (ALS) clinic on ALS survival: a population based study, 1996-2000. J Neurol Neurosurg Psychiatry 2003; 74: 1258-61.
27. Miller RG, Rosenberg JA, Gelinas DF, et al. Practice parameter: the care of the patient with amyotrophic lateral sclerosis (an evidence-based review): report of the Quality Standards Subcommittee of the American Academy of Neurology. ALS Practice Parameters Task Force. Neurology 1999; 52: 1311-23.
28. Andersen PM, Borasio GD, Dengler R, et al. EFNS Task Force on diagnosis and management of amyotrophic lateral sclerosis: guidelines for diagnosis and clinical care of patients and relatives. Eur J Neurol 2005; 12: 921-38.
29. Rowland LP. Six levels of hope [online]. Available from URL: http://www.als-mda.org/publications/als/als2-3.html# hope [Accessed 2010 Oct 27].
30. Forshew DA, Bromberg MB. A survey of clinicians' practice in the symptomatic treatment of ALS. Amyotroph Lateral Scler Other Motor Neuron Disord 2003; 4: 258-63.
31. 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.
32. Lacomblez L, Bensimon G, Leigh PN, et al. Dose-ranging study of riluzole in amyotrophic lateral sclerosis: Amyo-trophic Lateral Sclerosis/Riluzole Study Group II. Lancet 1996; 347: 1425-31.
33. Practice advisory on the treatment of amyotrophic lateral sclerosis with riluzole: report of the Quality Standards Subcommittee of the American Academy of Neurol. Neurology 1997; 49: 657-9.
34. Miller RG, Mitchell JD, Lyon M, et al. Riluzole for amyo- trophic lateral sclerosis (ALS)/motor neuron disease (MND). Cochrane Database Syst Rev 2002; (2): CD001447.
35. Lacomblez L, Bensimon G, Leigh PN, et al. Long-term safety of riluzole in amyotrophic lateral sclerosis. Amyo-troph Lateral Scler Other Motor Neuron Disord 2002; 3: 23-9.
36. Bensimon G, Lacomblez L, Delumeau JC, 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.
37. Miller RG, Bouchard JP, Duquette P, et al. Clinical trials of riluzole in patients with ALS: ALS/Riluzole Study Group-II. Neurology 1996; 47 Suppl. 2: S86-90, discussion S90-92.
38. Bradley WG, Anderson F, Gowda N, et al. Changes in the management of ALS since the publication of the AAN ALS practice parameter 1999. Amyotroph Lateral Scler Other Motor Neuron Disord 2004; 5: 240-4.
39. Walley T. Neuropsychotherapeutics in the UK: what has been the impact of NICE on prescribing? CNS Drugs 2004; 18: 1-12.
40. Mitsumoto H, Leigh N, Genge A, et al. Multidisciplinry approach: ideal care center and world perspective. In: Mitsumoto H, Przedborski S, Gordon P, editors. ALS. New York: Marcel Dekker, 2005: 605-32.
41. Gordon PH, Mitsumoto H. Symptomatic therapy and pal- liative aspects of clinical care. Handb Clin Neurol 2007; 82: 389-424.
42. Stambler N, Charatan M, Cedarbaum JM. Prognostic indi- cators of survival in ALS: ALS CNTF Treatment Study Group. Neurology 1998; 50: 66-72.
43. Miller RG, Jackson CE, Kasarskis EJ, et al. Practice para- meter update: the care of the patients with amyotrophic lateral sclerosis: drug, nutritional, and respiratory therapies (an evidence-based review). Neurology 2009; 73: 1218-26.
44. Morgan RK, McNally S, Alexander M, et al. Use of sniff nasal-inspiratory force to predict survival in amyotrophic lateral sclerosis. Am J Respir Crit Care Med 2005; 171: 269-74.
45. Heckmatt JZ, Loh L, Dubowitz V. Night-time nasal venti- lation in neuromuscular disease. Lancet 1990; 335: 579-82.
46. Bourke SC, Bullock RE, Williams TL, et al. Noninvasive ventilation in ALS: indications and effect on quality of life. Neurology 2003; 61: 171-7.
47. Newsom-Davis IC, Lyall RA, Leigh PN, et al. The effect of non-invasive positive pressure ventilation (NIPPV) on cognitive function in amyotrophic lateral sclerosis (ALS): a prospective study. J Neurol Neurosurg Psychiatry 2001; 71: 482-7.
48. Lechtzin N, Wiener CM, Clawson L, et al. Use of non- invasive ventilation in patients with amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord 2004; 5: 9-15.
49. Bradley MD, Orrell RW, Clarke J, et al. Outcome of ventila- tory support for acute respiratory failure in motor neurone disease. J Neurol Neurosurg Psychiatry 2002; 72: 752-6.
50. Lange DJ, Lechtzin N, Davey C, et al. High-frequency chest wall oscillation in ALS: an exploratory randomized, controlled trial. Neurology 2006 Sep 26; 67 (6): 991-7.
51. Miller RG, Jackson CE, Kasarskis EJ, et al. Practice para- meter update: the care of the patient with amyotrophic lateral sclerosis: multidisciplinary care, symptom management, and cognitive/behavioral impairment (an evidence-based review). Neurology 2009; 73: 1227-33.
52. Lou J, Reeves A, Benice T, et al. Fatigue and depression are associated with poor quality of life in ALS. Neurology 2003; 60: 122-3.
53. Rabkin JG, Albert SM, Del Bene ML, et al. Prevalence of depressive disorders and change over time in late-stage ALS. Neurology 2005; 65: 62-7.
54. Brooks BR, Thisted RA, Appel SH, et al. Treatment of pseudobulbar affect in ALS with dextromethorphan/ quinidine: a randomized trial. Neurology 2004; 63: 1364-70.
55. Jackson CE, Rosenfeld J. Symptomatic pharmacotherapy: bulbar and constitutional symptoms. In: Mitsumoto H, Przedborski S, Gordon P, editors. ALS. New York: Marcel Dekker, 2005: 633-48.
56. Jackson CE, Gronseth G, Rosenfeld J, et al. Randomized double-blind study of botulinum toxin type B for sialorrhea in ALS patients. Muscle Nerve 2008; 36: 137-43.
57. Harriman M, Morrison M, Hay J, et al. Use of radiotherapy for control of sialorrhea in patients with amyotrophic lateral sclerosis. J Otolaryngology 2001; 30: 242-9.
58. Foulsum I. Secretion management in motor neuron disease: ALS and other motor neuron disorders. 10th International Symposium on ALS/MND; 1999 Nov 8-10; Vancouver.
59. Bach JR. Amyotrophic lateral sclerosis: prolongation of life by noninvasive respiratory AIDS. Chest 2002; 122: 92-8.
60. Ashworth NL, Satkunam LE, Deforge D. Treatment for spasticity in amyotrophic lateral sclerosis/motor neuron disease. Cochrane Database Syst Rev 2004; (1): CD004156.
61. Arnulf I, Similowski T, Salachas F, et al. Sleep disorders and diaphragmatic function in patients with amyotrophic lateral sclerosis. Am J Respir Crit Care Med 2000; 161: 849-56.
62. Rabkin JG, Gordon PH, McElhiney M, et al. Modafinil treatment of fatigue in patients with ALS: a placebo-controlled study. Muscle Nerve 2009; 39: 297-303.
63. Khajehdehi P, Mojerlou M, Behzadi S, et al. A randomized, double-blind, placebo-controlled trial of supplementary vitamins E, C and their combination for treatment of haemodialysis cramps. Nephrol Dial Transplant 2001; 16: 1448-51.
64. Sykes NP. Palliative care. In: Mitsumoto H, Przedborski S, Gordon P, editors. ALS. New York: Marcel Dekker, 2005: 783-97.
65. Oliver D. Opioid medication in the palliative care of motor neurone disease. Pall Med 1998; 12: 113-5.
66. Leach RM. Palliative medicine and non-malignant, end- stage respiratory disease. In: Doyle D, Hanks G, Cherny N, et al., editors. Oxford textbook of palliative medicine. 3rd ed. Oxford: Oxford University Press, 2004: 895-916.
67. Von Gunten C, Weissman DE. Ventilator withdrawal pro- tocol (part 1). J Pall Med 2003; 6: 773-6.
68. Bennett M, Lucas V, Brennan M, et al. Using anti- muscarinic drugs in the management of death rattle: evidence-based guidelines for palliative care. Pall Med 2002; 16: 369-74.
69. Kurtzke JF. Neuroepidemiology: part II. Assessment of therapeutic trials. Ann Neurol 1986; 19: 311-9.
70. Gordon PH. Clinical trial methodology. In: Mitsumoto H, Przedborski S, Gordon P, editors. ALS. New York: Marcel Dekker, 2005: 583-604.
71. Fornai F, Longone P, Cafaro L, et al. Lithium delays pro- gression of amyotrophic lateral sclerosis. Proc Natl Acad Sci USA 2008; 105: 2052-7.
72. Aggarwal SP, Zinman L, Simpson E, et al. Safety and effi- cacy of lithium in combination with riluzole for treatment of amyotrophic lateral sclerosis: a randomized, double-blind, placebo-controlled trial. Lancet Neurol 2010; 9: 481-8.
73. Rothsetein JD, Patel S, Regan MR, et al. Beta-lactam anti- biotics offer neuroprotection by increasing glutamate transporter expression. Nature 2005; 433: 73-7.
74. Wang H, Larriviere KS, Keller KE, et al. R+ pramipexole as a mitochondrially focused neuroprotectant: initial early phase studies in ALS. Amyotroph Lateral Scler 2008; 9: 50-8.
75. Kieran D, Kalmar B, Dick JR, et al. Treatment with arimoclomol, a coinducer of heat shock proteins, delay disease progression in ALS mice. Nat Med 2004; 10: 402-5.
76. Pascuzzi RM, Shefner J, Chappell AS, et al. A phase II trial of talampanel in subjects with amyotrophic lateral sclerosis. Amyotroph Lateral Scler 2010; 11: 266-71.
77. Yoshino H, Kimura A. Investigation of the therapeutic effects of edaravone, a free radical scavenger, on amyo-trophic lateral sclerosis (phase II study). Amyotroph Lateral Scler 2006; 7: 241-5.
78. Cudkowicz ME, Andres PL, Macdonald SA, et al. Phase 2 study of sodium phenylbutyrate in ALS. Amyotroph Lateral Scler 2009; 10: 99-106.
79. Bordet T, Buisson B, Michaud M, 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.
80. Urushitani M, Ezzi SA, Julien JP. Therapeutic effects of immunization with mutant superoxide dismutase in mice modelsof amyotrophic lateral sclerosis. Proc Natl Acad Sci USA 2007; 104: 2495-500.
81. Miller TM, Kaspar BK, Kops GJ, et al. Virus-delivered small RNA silencing sustains strength in amyotrophic lateral sclerosis. Ann Neurol 2005; 57: 773-6.
82. Turner BJ, Cheah IK, Macfarlane KJ, et al. Antisense pep- tide nucleic acid-mediated knockdown of the p75 neuro-trophin receptor delays motor neuron disease in mutant SOD1 transgenic mice. J Neurochem 2003; 87: 752-63