Racing against the clock: Recognizing, differentiating, diagnosing, and referring the amyotrophic lateral sclerosis patient

Annals of Neurology

Volumn 65, Issue SUPPL. 1, 2009, Pages

  Shook, Steven J ^a   Pioro, Erik P ^a  

^a LERNER RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

IMMUNOMODULATING AGENT; RILUZOLE;

AMYOTROPHIC LATERAL SCLEROSIS; CLINICAL EVALUATION; CLINICAL FEATURE; COGNITION; COGNITIVE DEFECT; DIAGNOSTIC ACCURACY; DIAGNOSTIC IMAGING; DIAGNOSTIC PROCEDURE; DIAGNOSTIC TEST; DIFFERENTIAL DIAGNOSIS; DISEASE COURSE; DISEASE SEVERITY; ELECTRODIAGNOSIS; ELECTROMYOGRAPHY; EMOTIONAL DISORDER; EXERCISE; FAMILY HISTORY; FASCICULATION; FATIGUE; HUMAN; INCLUSION BODY MYOSITIS; LABORATORY TEST; MOLECULAR RECOGNITION; MUSCLE ATROPHY; MUSCLE CRAMP; MUSCLE WEAKNESS; NUCLEAR MAGNETIC RESONANCE IMAGING; PATIENT REFERRAL; PATIENT SATISFACTION; PRIORITY JOURNAL; REVIEW; SENSORY DYSFUNCTION;

AMYOTROPHIC LATERAL SCLEROSIS; BRAIN; DIAGNOSIS, DIFFERENTIAL; DISEASE PROGRESSION; ELECTRODIAGNOSIS; ELECTROMYOGRAPHY; HUMANS; MOTOR NEURON DISEASE; REFERRAL AND CONSULTATION; SPINE; SUPEROXIDE DISMUTASE;

EID: 60849106964     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.21545     Document Type: Review

References (45)

1. Chio A. ISIS survey: an international study on the diagnostic process and its implications in amyotrophic lateral sclerosis. J Neurol 1999;246(suppl 3):III-1-III-5.
2. Eisen A. How to improve the diagnostic process. J Neurol 1999;246(suppl 3):III-6-III-9.
3. Rocha JA, Reis C, Simoes F, et al. Diagnostic investigation and multidisciplinary management in motor neuron disease. J Neurol 2005;252:1435-1447.
4. Brooks BR. El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis. Subcommittee on motor neuron diseases/amyotrophic lateral sclerosis of the World Federation of Neurology research group on neuromuscular diseases and the El Escorial "Clinical limits of amyotrophic lateral sclerosis" workshop contributors. J Neurol Sci 1994;124(suppl):96-107.
5. 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;1:293-299.
6. Andersen PM, Borasio GD, Dengler R, et al. Good practice in the management of amyotrophic lateral sclerosis: clinical guidelines. An evidence-based review with good practice points. EALSC working group. Amyotroph Lateral Scler 2007;8:195-213.
7. Brooks BR, Miller RG, Swash M, Munsat TL. El Escorial revisited: Revised criteria for the diagnosis of amyotrophic lateral sclerosis. Available at: http://www.wfnals.org/guidelines/1998elescorial/elescorial1998.htm.
8. Davenport RJ, Swingler RJ, Chancellor AM, Warlow CP. voiding false positive diagnoses of motor neuron disease: lessons from the Scottish Motor Neuron Disease Register. J Neurol Neurosurg Psychiatry 1996;60:147-151.
9. raynor BJ, Codd MB, Corr B, et al. Amyotrophic lateral sclerosis mimic syndromes: a population-based study. Arch Neurol 000;57:109 -113.
10. Strong MJ. Progress in clinical neurosciences: the evidence for ALS as a multisystems disorder of limited phenotypic expression. Can J Neurol Sci 2001;28:283-298.
11. Swash M. An algorithm for ALS diagnosis and management. Neurology 1999;53(8 suppl 5):S58-S62.
12. Ravits J, Paul P, Jorg C. Focality of upper and lower motor neuron degeneration at the clinical onset of ALS. Neurology 2007;68:1571-1575.
13. Traynor BJ, Codd MB, Corr B, et al. Clinical features of amyotrophic lateral sclerosis according to the El Escorial and Airlie House diagnostic criteria: a population-based study. Arch Neurol 2000;57:1171-1176.
14. Ryan A, Nor AM, Costigan D, et al. Polymyositis masquerading as motor neuron disease. Arch Neurol 2003;60:1001-1003.
15. Wilbourn AJ. Clinical neurophysiology in the diagnosis of amyotrophic lateral sclerosis: the Lambert and the El Escorial criteria. J Neurol Sci 1998;160(suppl 1):S25-S29.
16. Gooch CL, Shefner JM. ALS surrogate markers. MUNE. Amyotroph Lateral Scler Other Motor Neuron Disord 2004; 5(suppl 1):104-107.
17. Wilbourn AJ. The "split hand syndrome." Muscle Nerve 2000; 23:138.
18. Mitsumoto H, Chad DA, Pioro EP. Neuroimaging. In: Amyotrophic Lateral Sclerosis. Philadelphia: FA Davis; 1998:134-150.
19. Pioro EP. Imaging: MRS/MRI/PET/SPECT: Pro. Amyotroph Lateral Scler Other Motor Neuron Disord 2002;3(suppl 1): S71.
20. Bowser R, Cudkowicz M, Kaddurah-Daouk R. Biomarkers for amyotrophic lateral sclerosis. Expert Rev Mol Diagn 2006;6:387-398.
21. de Carvalho M, Swash M. The onset of amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry 2006;77:388-389.
22. Zoccolella S, Beghi E, Palagano G, et al. Analysis of survival and prognostic factors in amyotrophic lateral sclerosis: a population based study. J Neurol Neurosurg Psychiatry 2008;79:33-37.
23. Cudkowicz ME, McKenna-Yasek D, Sapp PE, et al. Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis. Ann Neurol 1997;41:210-221.
24. Siao Tick Chong P, Vucic S, Cros DP. Multiple sclerosis presenting as lower motor neuron wasting and weakness of the distal upper extremity. Neurology 2003;61:1303-1304.
25. Verma A, Bradley WG. Atypical motor neuron disease and related motor syndromes. Semin Neurol 2001;21:177-187.
26. Dabby R, Lange DJ, Trojaborg W, et al. Inclusion body myositis mimicking motor neuron disease. Arch Neurol 2001;58:1253-1256.
27. Kurland LT, Mulder DW. Epidemiologic investigations of amyotrophic lateral sclerosis. 2. Familial aggregations indicative of dominant inheritance. I. Neurology 1955;5:182-196.
28. Williams DB, Floate DA, Leicester J. Familial motor neuron disease: differing penetrance in large pedigrees. J Neurol Sci 1988;86(2-3):215-230.
29. Rosen DR, Siddique T, Patterson D, et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 1993;362:59-62.
30. Drory VE, Birnbaum M, Peleg L, et al. Hexosaminidase A deficiency is an uncommon cause of a syndrome mimicking amyotrophic lateral sclerosis. Muscle Nerve 2003;28:109-112.
31. Kanai K, Kuwabara S, Arai K, et al. Muscle cramp in Machado-Joseph disease: altered motor axonal excitability properties and mexiletine treatment. Brain 2003;126(pt 4):965-973.
32. Vasconcelos OM, Harter DH, Duffy C, et al. Adult Hallervorden-Spatz syndrome simulating amyotrophic lateral sclerosis. Muscle Nerve 2003;28:118-122.
33. McDonald TD, Faust PL, Bruno C, et al. Polyglucosan body disease simulating amyotrophic lateral sclerosis. Neurology 1993;43:785-790.
34. Neary D, Snowden JS, Mann DM. Cognitive change in motor neurone disease/amyotrophic lateral sclerosis (MND/ALS). J Neurol Sci 2000;180:15-20.
35. Lomen-Hoerth C, Murphy J, Langmore S, et al. Are amyotrophic lateral sclerosis patients cognitively normal? Neurology 2003;60:1094-1097.
36. Irwin D, Lippa CF, Swearer JM. Cognition and amyotrophic lateral sclerosis (ALS). Am J Alzheimers Dis Other Demen 2007;22:300-312.
37. Ringholz GM, Appel SH, Bradshaw M, et al. Prevalence and patterns of cognitive impairment in sporadic ALS. Neurology 2005;65:586-590.
38. Cummings JL, Arciniegas DB, Brooks BR, et al. Defining and diagnosing involuntary emotional expression disorder. CNS Spectr 2006;11:1-7.
39. Miller RG, Anderson FA Jr, Bradley WG, et al. The ALS patient C.A.R.E. database: goals, design, and early results. ALS C.A.R.E. study group. Neurology 2000;54:53-57.
40. Pioro EP, Malone S, Anderson FA. Atypical features in patients with ALS and their impact on caregiver burden: findings from the ALS patient C.A.R.E. database. Amyotroph Lateral Scler 2005;6(suppl 1):38.
41. McClelland S III, Bethoux FA, Boulis NM, et al. Intrathecal baclofen for spasticity-related pain in amyotrophic lateral sclerosis: efficacy and factors associated with pain relief. Muscle Nerve 2008;37:396-398.
42. Kennedy WR, Alter M, Sung JH. Progressive proximal spinal and bulbar muscular atrophy of late onset. A sex-linked recessive trait. Neurology 1968;18:671-680.
43. Lee JR, Annegers JF, Appel SH. Prognosis of amyotrophic lateral sclerosis and the effect of referral selection. J Neurol Sci 1995;132:207-215.
44. Chio A, Bottacchi E, Buffa C, et al. Positive effects of tertiary centres for amyotrophic lateral sclerosis on outcome and use of hospital facilities. J Neurol Neurosurg Psychiatry 2006;77:948-950.
45. Sorenson EJ, Mandrekar J, Crum B, Stevens JC. Effect of referral bias on assessing survival in ALS. Neurology 2007;68:600-602.