Diagnostic investigation and multidisciplinary management in motor neuron disease

Journal of Neurology

Volumn 252, Issue 12, 2005, Pages 1435-1447

  Rocha, J A ^a   Reis, C ^b   Simoes F ^b   Fonseca, J ^b   Mendes Ribeiro, J ^b  

^a Dept of Physical Medicine and Rehabilitation   (Portugal)

^b HOSPITAL DE SÃO JOÃO   (Portugal)

Author keywords

Amyotrophiclateral sclerosis; Electromyography; Etiopathogenesis; Management; Motor neuron disease; Neuroimaging; Rehabilitation

Indexed keywords

ACETYLCYSTEINE; ADRENERGIC RECEPTOR STIMULATING AGENT; ANALGESIC AGENT; ANTIEMETIC AGENT; BACLOFEN; BENZATROPINE; CALCIUM CHANNEL BLOCKING AGENT; DEXTROMETHORPHAN; GABAPENTIN; GLUTAMATE RECEPTOR ANTAGONIST; GLYCOPYRRONIUM BROMIDE; LAMOTRIGINE; LAXATIVE; MAGNESIUM; MEMANTINE; NONSTEROID ANTIINFLAMMATORY AGENT; OPIATE; PARACETAMOL; PHENYTOIN; PSEUDOEPHEDRINE; QUINIDINE SULFATE; RILUZOLE; SCOPOLAMINE; SOMATOMEDIN C; TETRAZEPAM; TIZANIDINE; TOCOPHEROL; TOPIRAMATE; TRIHEXYPHENIDYL; UNINDEXED DRUG;

AFFECT; AMYOTROPHIC LATERAL SCLEROSIS; CLINICAL FEATURE; CLINICAL TRIAL; CORRELATION ANALYSIS; COST BENEFIT ANALYSIS; DEPRESSION; DIAGNOSTIC TEST; DIFFERENTIAL DIAGNOSIS; DISEASE COURSE; DYSARTHRIA; DYSPHAGIA; DYSPNEA; FUNCTIONAL INDEPENDENCE MEASURE; HEREDITY; HOME CARE; HUMAN; HYPERSALIVATION; MOTOR NEURON DISEASE; MUSCLE CRAMP; MUSCLE WEAKNESS; NEUROFILAMENT; NEUROIMAGING; NEUROPATHOLOGY; NUTRITION; OXIDATIVE STRESS; PAIN; PALLIATIVE THERAPY; PRIORITY JOURNAL; PROGNOSIS; QUADRIPLEGIA; QUALITY OF LIFE; RESPIRATORY FAILURE; REVIEW; RISK FACTOR; SPASTICITY; SURVIVAL; URINE INCONTINENCE;

AMYOTROPHIC LATERAL SCLEROSIS; BULBAR PALSY, PROGRESSIVE; DIAGNOSIS, DIFFERENTIAL; DIAGNOSTIC IMAGING; ELECTROPHYSIOLOGY; HUMANS; MOTOR NEURON DISEASE; MUSCLE WEAKNESS; NEUROLOGIC EXAMINATION; NEUROPROTECTIVE AGENTS; RILUZOLE; SPINOCEREBELLAR DEGENERATIONS;

EID: 29144486979     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-005-0007-9     Document Type: Review

References (113)

1. Donaghy M (1999) Classification and clinical features of motor neuron diseases and motor neuropathies in adults. J Neurol 246:331-333
2. Winderbank A (1994) Adult Motor neuron diseases. In: Munsat TL, Engel AG, Banker BQ (eds) Myology. McGrawHill, New York, pp 1854-1864
3. David C (2002) Electrodiagnostic approach to the patient with suspected motor neuron disease. Neurol Clinics N Am 20:527-555
4. Lou J-S (2004) Amyotrophic lateral sclerosis. In: Gilman S (ed) Neurobase. Arbor Publishing, La Jolla, CA
5. Han JJ, et al. (2003) The amyotrophic lateral sclerosis center: A model of multidisciplinary management. Crit Rev Phys Med Rehabil 15:21-40
6. Francis K, Bach JR, DeLisa JA (1999) Evaluation and rehabilitation of patients with adult motor neuron disease. Arch Phys Med Rehabil 80:951-963
7. Ross MA (1997) Acquired motor neuron disorders. Neurol Clinics N Am 15:481-500
8. Robberecht W, Van Den Bosch L (1998) The pathogenesis of amyotrophic lateral sclerosis. Neurosci Res Commun 23:67-75
9. Bryant PR, et al. (2004) Stroke and neurodegenerative disorders. Arch Phys Med Rehabil 85(Suppl 1):21-33
10. Haverkamp LJ, et al. (1995) Natural history of amyotrophic lateral sclerosis in a database population: validation of a scoring system and a model for survival prediction. Brain 118:707-719
11. Aguila MA, et al. (2003) Prognosis in amyotrophic lateral sclerosis - a population based study. Neurology 60:813-819
12. Leigh PN, et al. (2003) The management of motor neuron disease. J Neurol Neurosurg Psychiatry 74 (Suppl IV):32-47
13. Krakauer MD, Willems PJ, Hofman A (2003) Genetic epidemiology of amyotrophic lateral sclerosis. Clin Genet 63:83-101
14. Rosen DR, Siddique T, Patterson D, et al. (1993) Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 362:59-62
15. Cudkowicz ME, McKenna-Vasek D, Sapp PE, et al. (1997) Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis. Ann Neurol 2:210-221
16. Yang Y, Hentati A, Deng HX, et al. (2001) 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 29:160-165
17. Hand CK, Khoris J, Salachas F, et al. (2001) A novel locus for familial ALS on chromosome 18q. Am J Hum Genet 70(1):251-256
18. Rabin BA, Griffin JW, Crain BJ, Scavina M, Chance PF,Cornblath DR (1999) Autosomal dominant juvenile amyotrophic lateral sclerosis. Brain 122:1539-1550
19. Chen YZ, Benett CL, Huynh HM, et al. (2004) DNA/RNA helicase gene mutations in a form of juvenile amyotrophic sclerosis (ALS4). Am J Hum Genet 74:1128-1135
20. Hentati A, Ouahci K, Pericak-Vance MA, Ahmad A, et al. (1997) Linkage of a common locus for recessive amyotrophic lateral sclerosis. Am J Hum Genet A61: A279
21. Hafezparast M, Ahmad-Annuar A, Hummerich H, et al. (2003) Paradigms for identification of new genes in motor neuron degeneration. Amyotroph Lateral Scler Other Motor Neuron Disord 4:249-257
22. Hentati A, Ouahci K, Pericak-Vance MA, et al. (1998) Linkage of a commoner form of recessive amyotrophic lateral sclerosis to chromossome 15q15-q22 markers. Neurogenetics 2(1):55-60
23. Abalkhail H, Mitchell J, Habgood J et al. A new familial amyotrphic lateral sclerosis locus on chromosome 16q12.1-16q12.2. Am J Hum Genet 73:383-389
24. Sapp PC, Hosler BA, McKenna-Yasek D, et al. (2003) Identification of two novel loci for dominantly inherited familial Amyotrophic Lateral Sclerosis. Am J Hum Genet 73:397-403
25. Nishimura Al, Mitne-Neto M, Silva MC, et al. (2004) A mutations in the vesicle trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. Am J Hum Genet 75:822-831
26. Hosler BA, Siddique T, Sapp PC, et al. (2000) Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22. JAMA 284:1664-1669
27. Wilhelmsen KC, Lynch T, Pavlou E, Higgins M, Nygaard TG (1994) Localization of disinhibition-dementia parkinsonism amyotrophy complex to 17q21-22. Am J Hum Genet 55:1159-1165
28. Hutton M, Lendon CL, Rizzu P, et al. (1998) Association of missense and 5f-splice-site mutations in tau with the inherited dementia FTDP-17. Nature 393:702-705
29. Munch C, Sedlmeier R, Meyer T, Homberg V, et al. (2004) point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS. Neurology 63:724-726
30. Storkebaum E, Lambrechts D, Carmeliet P (2004) VEGF: once regarded as a specific angiogenic factor, now implicated in neuroprotection. Bioessays 26(9):943-954
31. Terry PD, Kamel F, Umbach DM, et al. (2004) VEGF promoter haplotype and amyotrophic lateral sclerosis (ALS). J Neurogenet 18:429-434
32. Figlewicz DA, Krizus A, Martinoli MG, et al. (1994) Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis. Hum Mol Genet 3:1757-1761
33. Corbo M, Hays AP (1992) Peripherin and neurofilament protein coexist in spinal spheroids of motor neuron disease. J Neuropathol Exp Neurol 51:531-537
34. Jackson M, Steers G, Leigh PN, et al. (1999) Polymorphisms in the Glutamate transporter gene EAAT2 in European ALS patients. J Neurol 246:1140-1144
35. Carriedo SG, Yin HZ, Weiss JH (1996) Motor neurons are selectively vulnerable to AMPA/kainate receptor-mediated injury in vitro. J Neurosci 16:4069-4079
36. Lacomblez L, Doppler V, Beucher I, et al. (2002) ApoE: a potential marker of disease progression in ALS. Neurology 58:1112-1114
37. Mui S, Rebeck GW, McKenna-Yasek D, Hyman BT, Brown RH Jr. (1995) Apolipoprotein E epsilon 4 allele is not associated with earlier age at onset in amyotrophic lateral sclerosis. Ann Neurol 38:460-463
38. Giess R, Beck M, Goetz R, et al. (2000) Potential role of LIF as a modifier gene in the pathogenesis of amyotrophic lateral sclerosis. Neurology 54:1003-1005
39. Orrell RW, King AW, Lane RJ, de Belleroche JS (1995) Investigation of a null mutation of the CNTF gene in familial amyotrophic lateral sclerosis. J Neurol Sci 132:126-128
40. James CM, Daniels J, Wiles CM, Owen MJ (1994) Debrisoquine hydroxylase gene polymorphism in motor neuron disease. Neurodegeneration 3:149-152
41. Olkowski ZL (1998) Mutant AP endonuclease in patients with amyotrophic lateral sclerosis. Neuroreport Jan 26: 9(2):239-242
42. Carri MT, et al. (2003) Neurodegeneration in amyotrophic lateral sclerosis: the role of oxidative stress and altered homeostasis of metals. Brain Res Bull 61:365-374
43. Robert H, Phil B, Robberecht D (2001) Amyotrophic lateral sclerosis: Pathogenesis. Semin Neurol 8:131-139
44. Cudkowicz ME, McKenna-Vasek D, Sapp PE, et al. (1997) Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis. Ann Neurol 2:210-221
45. Andersen PM, Nilsson P, Keränen M-L, et al. (1997) Phenotypic heterogeneity in MND-patients with CuZn-superoxide dismutase mutations in Scandinavia. Brain 10:1723-1737
46. Andersen MP (2001) Genetics of sporadic ALS. ALS and other motor neuron disorders 2(Suppl 1):S37-S41
47. Rosen DR, Siddiique T, Petterson D, et al. (1993) Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 362(6415):59-62
48. Jan HV, Van den Berg, Wokkle JH (2004) The future of motor neuron disease, the challenges is in the genes. J Neurol 251:491-450
49. Nelson LM, McGuire V, Longstreth WT, et al. (2000) Population-based case-control study of amyotrophic lateral sclerosis in western Washington State. I. Cigarette smoking and alcohol consumption. Am J Epidemiol 151:156-163
50. Weisskopf MG, McCullough ML, Calle EE, et al. (2004) Prospective study of cigarette smoking and amyotrophic lateral sclerosis. Am J Epidemiol 160:26-33
51. Louvel E, Hugon J, Doble A (1997) Therapeutic advances in amyotrophic lateral sclerosis. TiPS 18:196-203
52. Barbeito LH (2004) A role for astrocytes in motor neuron loss in amyotrophic lateral sclerosis. Brain Res Rev 1:12
53. Rothstein JD, Van Kammen M, Levey AI, Martin LJ, Kuncl RW (1995) Selective loss of glial glutamate transporter GLT 1 in amyotrophic lateral sclerosis. Ann Neurol 38:73-84
54. Stuerenburg HJ, Kunze K (1998) Tissue nerve growth factor concentrations in neuromuscular diseases. Eur J Neurol 5:487-490
55. Georgesco M, Salerno A, Camu W (1997) Somatosensory evoked potentials by stimulation of lower limbs nerves in amyotrophic lateral sclerosis. Electroencephalograph Clin Neurophysiol 104:333-342
56. Haganasi HA, et al. (2002) Cognitive impairment in amyotrophic lateral sclerosis: evidence from neuropsycological investigation and event related potentials. Cogn Brain Res 14:234-244
57. Brooks BR, Miller RG, Swash M, Munsat TL (1998) World Federation of Neurology group on Motor Neuron Diseases. El Escorial revisited: revised criteria for the diagnosis of Amyotrophic sclerosis. Philadelphia: FA Davis, pp 47-64
58. Cornbloth DR, et al. (1992) Nerve conduction studies in amyotrophic sclerosis. Muscle Nerve 15:1111-1115
59. Rowland LP (1998) Diagnosis of amyotrophic lateral scleoris. J Neurol Sci 160(Suppl 1):S6-S24
60. Olney RK, Lewis RA, Putnam TD, et al. (2003) Consensus criteria for the diagnosis of multifocal motor neuropathy. Muscle Nerve 27:117-121
61. Daube JR (2000) Electrodiagnostic studies in amyotrophic lateral sclerosis and other motor neuron disorders. Muscle Nerve 23:1488-1502
62. Masseli RA, Wollman RL, Leung C (1993) Neuromuscular transmission in amyotrophic lateral sclerosis. Muscle Nerve 16:1193-1203
63. Iijima M, Arasaki K, Iwamoto H, et al. (1991) Maximal and minimal motor nerve conduction velocities in patients with motor neuron diseases. Muscle Nerve 14:1110-1115
64. Clifford R, et al. (2002) Normal aging, dementia, and neurodegenerative disease- amyotrophic lateral sclerosis. In: Atlas SW (ed) Magnetic resonance imaging of the brain and spine. Lippincott WandW, Philadelphia, pp 1227-1229
65. Osborn AG (1994) Infection, aquired metabolic, white matter, and degenerative diseases of the brain - amyotrophic lateral sclerosis. In: Osborn AG (ed) Diagnostic Neuroradiology. Mosby, St Louis, pp 778-779
66. Grossman RI, Yousem DM (2003) Neurodegenerative diseases and hydrocephalus-amyotrophic lateral sclerosis. In: Grossman RI, Yousem DM (eds) Neuroradiology - The requisites. Mosby, USA, pp 388-389
67. Comi G, Rovaris M, Leocani L (1999) Neuroimaging in amyotrophic lateral sclerosis. Eur J Neurol 6:629-637
68. Bowen BC, et al. (2000) MR imaging and localized proton spectroscopy of the precentral gyrus in amyotrophic lateral sclerosis. AJNR 21:647-648
69. Kalra S, et al. (2003) Gabapentin therapy for amyotrophic lateral sclerosis: lack of improvement in neuronal integrity shown by MR spectroscopy. AJNR 24:476-480
70. Ellis CM, et al. (1999) Diffusion tensor MRI assesses corticospinal tract damage in ALS. Neurology 53(5):1051-1058
71. Ulug AM, et al. (1999) Clinical use of Diffusion-Tensor Imaging for diseases causing neuronal and axonal damage. AJNR 20:1044-1048
72. Sundgren PC, et al. (2004) Diffusion tensor imaging of the brain: review of clinical applications. Neuroradiology 46:339-350
73. Kato, et al. (1997) Detection of pyramidal tract lesions in amyotrophic lateral sclerosis with magnetization-transfer measurements. AJNR 18:1541-1547
74. Bensimon GL, Lacomblez L, Meininger V (1994) A control trial of riluzole in amyotrophic sclerosis. N Engl J Med 330:585-591
75. Borasio GD, et al. (1996) A placebo-controlled trial of insulin-like growth factor-I in amyotrophic lateral sclerosis. European ALS/IGF-I Study Group. J Neurol 243(Suppl 2):26
76. ALS CNTF Treatment Study (ACTS) Phase III (1996) Study Group A double-blind placebo-controlled trial of subcutaneous recombinant human ciliary neurotrophic factor (rHCNTF) in amyotrophic lateral sclerosis. Neurology 46:1244-1249
77. Gian Domenico Borasio, Raymond Voltz (1997) Palliative care in amyotrophic lateral sclerosis. J Neurol 244(Suppl 4):S11-S17
78. Ganzini L, Johnston S, Silveira MJ (2002) The final month in patients with ALS. Neurology 59:428-431
79. Lyall RA, Donaldson N, Polkey MI, et al. (2001) Respiratory muscle strength and ventilatory failure in amyotrophic sclerosis. Brain 124(10):2000-2013
80. Fitting JW, Paillex R, Hirt L, et al. (1999) Sniff nasal pressure: a sensitive respiratory test to assess progression of amyotrophic lateral sclerosis. Ann Neurol 46(6):887-893
81. Morgan RK, McNally S, Alexander M, et al. (2005) Use of sniff-inspiratory force to predict survival in amyotrophic lateral sclerosis. Am J Resp Crit Care Med 171:269-274
82. Miller RG, et al. (1999) "Practice parameter: the care of the patient with amyotrophic lateral sclerosis- an evidence-based review", American Academy of Neurology-Guidelines for Care in ALS
83. Krivickas LS (2000) Symptom management and rehabilitation in ALS. AAEM course handout. Update on Motor Neuron Dis
84. Bach J (1995) respiratory muscle aids for prevention of morbidity and mortality. Scand Neurol 15:72-83
85. Schiffman PL, Belsh JM (1989) Effect of inspiratory resistance and theophylline on respiratory muscle strength in patients with amyotrophic lateral sclerosis. Am Rev Resp Dis 139:1418-1423
86. Aboussouan LS, Khan SU, Banerjee M, et al. (2001) Objective measures of the efficacy of noninvasive positive-pressure ventilation in amyotrophic lateral sclerosis. Muscle Nerve 24:403-409
87. Francis K, DeLisa J (1999) Evaluation and rehabilitation of patients with adult motor neuron disease. Arch Phys Med Rehabil 80:951-963
88. Aboussouan LS, Khan SU, Meeker DP, Stelmach K, Mitsumoto H (1997) Effect of non-invasive positive-pressure ventilation on survival im amyotrophic lateral sclerosis. Ann Inter Med 127:450-453
89. Stambler N, Charantan M, Cedarbaum JM (2003) Prognostic indicators of survival in ALS. Neurology 60:1252-1258
90. Kasarskis EJ, Berryman S, et al. (2001) Nutritional status of patients with ALS: relation to proximity of death. Am J Clin Nutr 74:328-334
91. Mazzini L, Corra T, et al. (1995) Percutaneous endoscopic gastrostomy and enteral nutrition in amyotrophic lateral sclerosis. Neurology 242:695-698
92. Kasaskis EJ, Scarlata D, Hill R, et al. (1999) A retrospective study of percutaneous endoscopic gastrostomy in ALS patients during the BDNF and CNTF trials. J Neurol Sci 169:118-125
93. Thornton FJ, et al. (2002) Amyotrophic lateral sclerosis: enteral nutrition provision: endoscopic or radiologic gastrostomy? Radiology 224:713-717
94. Drory VE, Goltsman E, Reznik JG (2001) The value of muscle exercise in patients with amyotrophic lateral sclerosis. J Neurol Sci 191:133-137
95. Brinkmann JR, Ringel SP (1991) Effectiveness of exercise in progressive neuromuscular disease. J Neurol Rehabil 5:195-199
96. Talbot K (2002) Motor neurone disease. Postgrad Med J 78:513-519
97. Oliver D (1996) The quality of care and symptom control-the effects on the terminal phase of MND/ALSJ. Neurol Sc 139(Suppl):134-136
98. World Health organization (1990) Cancer pain relief. Report of the WHO expert comitee. Technical report series 804. Geneva: World Health Organization
99. Gallagher JP (1989) Pathologic laughter and crying in ALS: a search for their origin. Acta Neurol Scand 80:114-117
100. Borasio GD, Miller RG (2001) Clinical Characteristics and Management of ALS Semin Neurol 21(2):155-166
101. David Oliver (2002) Paliative care for motor neuron disease. Pract Neurol 2:68-80
102. Schiffer RB, Herndon RM, Rudick RA (1985) Treatment of pathologic laughing and weeping with amitriptyline. N Engl J Med 312:1480-1482
103. Borasio GD, Voltz R (1997) Palliative care in amyotrophic lateral sclerosis. J Neurol 244(Suppl 4):S11-S17
104. Iannacone S, Strambi FL (1996) Pharmacological management of emotional lability. Clin Pharmacol 19:532-535
105. Brooks BR, Trusted RA, Appel SH (2004) Treatment of pseudobulbar affect in ALS with dextromethorphan/quinidine - A randomized trial. Neurology 63:1364-1370
106. Bushara KO (1997) Sialorrhea in amyotrophic lateral sclerosis: a hypothesis of a new treatment: botulinum A injections of the parotid glands. Med Hypotheses 48:337-339
107. Bathia KP, Munchau A, Brown P (1999) Botulinum toxin is a useful treatment in excessive drooling in saliva. J Neurol Neurosurg Psychiatry 667:697
108. Benditt JO, Smith TS, Tonelli MR (2001) Empowering the individual with ALS at the end-of-life: disease-specific advance care planning. Muscle Nerve 24:1706-1709
109. Silverstein MD, Stocking CB, Antel JP (1991) Amyotrophic lateral sclerosis and life-sustaining therapy. Mayo Clin Proc 66:906-913
110. Neudert C, Oliver D, Wasner M (2001) The course of the terminal phase in patients with amyotrophic lateral sclerosis. J Neurol 248:612-616
111. O'Brien T, Kelly M, Sunders C (1992) Motor neuron disease: a hospice perspective. BMJ 304:471-473
112. Standards and Accreditation Comitee Medical Guidelines Task Force (1996) Medical guidelines for determining prognosis in selected non-cancer diseases. The National Hospice Organization, pp 24-26
113. Krivickas LS, Shocley L, Mitsumoto H (1997) Homecare of patients with amyotrophic lateral sclerosis (ALS). J Neurol Sci 152(Supple 1):S82-S89