参考文献

流行病学

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[2]Cronin S,Hardiman O,Traynor BJ. Ethnic variation in the incidence of ALS: a systematic review. Neurology. 2007 Mar 27. 68(13): 1002-7.
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病因

[1]Lin CL,Bristol LA,Jin L,Dykes-Hoberg M,Crawford T,Clawson L,Rothstein JD. Aberrant RNA processing in a neurodegenerative disease: the cause for absent EAAT2, a glutamate transporter, in amyotrophic lateral sclerosis. Neuron. 1998 Mar. 20(3): 589-602.
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[2]Kawahara Y,Ito K,Sun H,Aizawa H,Kanazawa I,Kwak S. Glutamate receptors: RNA editing and death of motor neurons. Nature. 2004 Feb 26. 427(6977): 801.
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[3]Rockenstein E,Crews L,Masliah E. Transgenic animal models of neurodegenerative diseases and their application to treatment development. Adv Drug Deliv Rev. 2007 Sep 30. 59(11): 1093-102.
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[4]Okado-Matsumoto A,Fridovich I. Amyotrophic lateral sclerosis: a proposed mechanism. Proc Natl Acad Sci U S A. 2002 Jun 25. 99(13): 9010-4.
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[6]Rakhit R,Cunningham P,Furtos-Matei A,Dahan S,Qi XF,Crow JP,Cashman NR,Kondejewski LH,Chakrabartty A. Oxidation-induced misfolding and aggregation of superoxide dismutase and its implications for amyotrophic lateral sclerosis. J Biol Chem. 2002 Dec 6. 277(49): 47551-6.
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[7]Lipton SA,Gu Z,Nakamura T. Inflammatory mediators leading to protein misfolding and uncompetitive/fast off-rate drug therapy for neurodegenerative disorders. Int Rev Neurobiol. 2007. 82(): 1-27.
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[8]Rosen DR,Siddique T,Patterson D,Figlewicz DA,Sapp P,Hentati A,Donaldson D,Goto J,O'Regan JP,Deng HX. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature. 1993 Mar 4. 362(6415): 59-62.
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[9]Borchelt DR. Amyotrophic lateral sclerosis--are microglia killing motor neurons? N Engl J Med. 2006 Oct 12. 355(15): 1611-3.
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[10]Beal MF. Mitochondria take center stage in aging and neurodegeneration. Ann Neurol. 2005 Oct. 58(4): 495-505.
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[11]Lin H,Schlaepfer WW. Role of neurofilament aggregation in motor neuron disease. Ann Neurol. 2006 Oct. 60(4): 399-406.
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分类分型

[1]Lee CN. Reviewing evidences on the management of patients with motor neuron disease. Hong Kong Med J. 2012 Feb. 18(1): 48-55.
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[2]Benatar M,Kurent J,Moore DH. Treatment for familial amyotrophic lateral sclerosis/motor neuron disease. Cochrane Database Syst Rev. 2009 Jan 21. (1): CD006153.
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问诊与查体

[1]Raaphorst J,de Visser M,Linssen WH,de Haan RJ,Schmand B. The cognitive profile of amyotrophic lateral sclerosis: A meta-analysis. Amyotroph Lateral Scler. 2010. 11(1-2): 27-37.
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[2]Boeve BF,Boylan KB,Graff-Radford NR,DeJesus-Hernandez M,Knopman DS,Pedraza O,Vemuri P,Jones D,Lowe V,Murray ME,Dickson DW,Josephs KA,Rush BK,Machulda MM,Fields JA,Ferman TJ,Baker M,Rutherford NJ,Adamson J,Wszolek ZK,Adeli A,Savica R,Boot B,Kuntz KM,Gavrilova R,Reeves A,Whitwell J,Kantarci K,Jack CR Jr,Parisi JE,Lucas JA,Petersen RC,Rademakers R. Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72. Brain. 2012 Mar. 135(Pt 3): 765-83.
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[3]Lomen-Hoerth C,Anderson T,Miller B. The overlap of amyotrophic lateral sclerosis and frontotemporal dementia. Neurology. 2002 Oct 8. 59(7): 1077-9.
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[4]Dickson DW,Josephs KA,Amador-Ortiz C. TDP-43 in differential diagnosis of motor neuron disorders. Acta Neuropathol. 2007 Jul. 114(1): 71-9.
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[5]Benatar M,Kurent J,Moore DH. Treatment for familial amyotrophic lateral sclerosis/motor neuron disease. Cochrane Database Syst Rev. 2009 Jan 21. (1): CD006153.
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[6]Lee CN. Reviewing evidences on the management of patients with motor neuron disease. Hong Kong Med J. 2012 Feb. 18(1): 48-55.
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[7]Andersen PM,Sims KB,Xin WW,Kiely R,O'Neill G,Ravits J,Pioro E,Harati Y,Brower RD,Levine JS,Heinicke HU,Seltzer W,Boss M,Brown RH Jr. Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes. Amyotroph Lateral Scler Other Motor Neuron Disord. 2003 Jun. 4(2): 62-73.
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[8]Rosen DR,Siddique T,Patterson D,Figlewicz DA,Sapp P,Hentati A,Donaldson D,Goto J,O'Regan JP,Deng HX. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature. 1993 Mar 4. 362(6415): 59-62.
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[9]Pablo J,Banack SA,Cox PA,Johnson TE,Papapetropoulos S,Bradley WG,Buck A,Mash DC. Cyanobacterial neurotoxin BMAA in ALS and Alzheimer's disease. Acta Neurol Scand. 2009 Oct. 120(4): 216-25.
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[10]Kuzuhara S. [Revisit to Kii ALS--the innovated concept of ALS-Parkinsonism-dementia complex, clinicopathological features, epidemiology and etiology]. Brain Nerve. 2007 Oct. 59(10): 1065-74.
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[11]Worms PM. The epidemiology of motor neuron diseases: a review of recent studies. J Neurol Sci. 2001 Oct 15. 191(1-2): 3-9.
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[12]Horner RD,Feussner JR,Kasarskis EJ. Prospective study of military service and mortality from ALS. Neurology. 2005 Jul 12. 65(1): 180-1; author reply 180-1.
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[13]Veldink JH,Kalmijn S,Groeneveld GJ,Titulaer MJ,Wokke JH,van den Berg LH. Physical activity and the association with sporadic ALS. Neurology. 2005 Jan 25. 64(2): 241-5.
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[14]Ascherio A. Physical activity and the association with sporadic ALS. Neurology. 2005 Sep 27. 65(6): 972-3; author reply 972-3.
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[15]Chiò A,Benzi G,Dossena M,Mutani R,Mora G. Severely increased risk of amyotrophic lateral sclerosis among Italian professional football players. Brain. 2005 Mar. 128(Pt 3): 472-6.
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[16]Kamel F,Umbach DM,Munsat TL,Shefner JM,Sandler DP. Association of cigarette smoking with amyotrophic lateral sclerosis. Neuroepidemiology. 1999. 18(4): 194-202.
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[17]Nelson LM,McGuire V,Longstreth WT Jr,Matkin C. Population-based case-control study of amyotrophic lateral sclerosis in western Washington State. I. Cigarette smoking and alcohol consumption. Am J Epidemiol. 2000 Jan 15. 151(2): 156-63.
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[18]Alonso A,Logroscino G,Hernán MA. Smoking and the risk of amyotrophic lateral sclerosis: a systematic review and meta-analysis. J Neurol Neurosurg Psychiatry. 2010 Nov. 81(11): 1249-52.
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[19]Armon C. Smoking may be considered an established risk factor for sporadic ALS. Neurology. 2009 Nov 17. 73(20): 1693-8.
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[20]McGuire V,Longstreth WT Jr,Nelson LM,Koepsell TD,Checkoway H,Morgan MS,van Belle G. Occupational exposures and amyotrophic lateral sclerosis. A population-based case-control study. Am J Epidemiol. 1997 Jun 15. 145(12): 1076-88.
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[21]Kamel F,Umbach DM,Munsat TL,Shefner JM,Hu H,Sandler DP. Lead exposure and amyotrophic lateral sclerosis. Epidemiology. 2002 May. 13(3): 311-9.
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[22]Kamel F,Umbach DM,Hu H,Munsat TL,Shefner JM,Taylor JA,Sandler DP. Lead exposure as a risk factor for amyotrophic lateral sclerosis. Neurodegener Dis. 2005. 2(3-4): 195-201.
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[23]Johnson FO,Atchison WD. The role of environmental mercury, lead and pesticide exposure in development of amyotrophic lateral sclerosis. Neurotoxicology. 2009 Sep. 30(5): 761-5.
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[24]Callaghan B,Feldman D,Gruis K,Feldman E. The association of exposure to lead, mercury, and selenium and the development of amyotrophic lateral sclerosis and the epigenetic implications. Neurodegener Dis. 2011. 8(1-2): 1-8.
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辅助检查

[1]中华医学会神经病学分会肌电图与临床神经电生理学组, 中华医学会神经病学分会神经肌肉病学组. 中国肌萎缩侧索硬化诊断和治疗指南. 中华神经科杂志. 2012. 45(7): 531-533.
[2]Shipe C,Zivković SA. Electrodiagnostic evaluation of motor neuron disorders. Am J Electroneurodiagnostic Technol. 2004 Mar. 44(1): 30-6.
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[3]de Carvalho M,Swash M. Nerve conduction studies in amyotrophic lateral sclerosis. Muscle Nerve. 2000 Mar. 23(3): 344-52.
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[4]Daube JR. Electrodiagnostic studies in amyotrophic lateral sclerosis and other motor neuron disorders. Muscle Nerve. 2000 Oct. 23(10): 1488-502.
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[5]Kornberg AJ,Pestronk A. The clinical and diagnostic role of anti-GM1 antibody testing. Muscle Nerve. 1994 Jan. 17(1): 100-4.
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并发症

[1]季滢, 樊东升. 肌萎缩侧索硬化的诊断与治疗要点——2012版《中国肌萎缩侧索硬化诊断和治疗指南》解读. 中华医学信息导报. 2012. 27(17): 21.
[2]Miller RG,Mitchell JD,Moore DH. Riluzole for amyotrophic lateral sclerosis (ALS)/motor neuron disease (MND). Cochrane Database Syst Rev. 2000. (2): CD001447.
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[3]Weber G,Bitterman H. Riluzole-induced neutropenia. Neurology. 2004 May 11. 62(9): 1648.
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诊断标准

[1]中华医学会神经病学分会. 肌萎缩侧索硬化的诊断标准(草案). 中华神经科杂志. 2001. 34(3): 190.
[2]Brooks BR,Miller RG,Swash M,Munsat TL. El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord. 2000 Dec. 1(5): 293-9.
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诊断程序

[1]Krivickas LS. Amyotrophic lateral sclerosis and other motor neuron diseases. Phys Med Rehabil Clin N Am. 2003 May. 14(2): 327-45.
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[2]Haverkamp LJ,Appel V,Appel SH. Natural history of amyotrophic lateral sclerosis in a database population. Validation of a scoring system and a model for survival prediction. Brain. 1995 Jun. 118 ( Pt 3)(): 707-19.
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[3]Shoesmith CL,Findlater K,Rowe A,Strong MJ. Prognosis of amyotrophic lateral sclerosis with respiratory onset. J Neurol Neurosurg Psychiatry. 2007 Jun. 78(6): 629-31.
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[4]Benatar M,Kurent J,Moore DH. Treatment for familial amyotrophic lateral sclerosis/motor neuron disease. Cochrane Database Syst Rev. 2009 Jan 21. (1): CD006153.
pubmed摘要
[5]Lee CN. Reviewing evidences on the management of patients with motor neuron disease. Hong Kong Med J. 2012 Feb. 18(1): 48-55.
pubmed摘要 | 全文链接
[6]Filippi M,Agosta F,Abrahams S,Fazekas F,Grosskreutz J,Kalra S,Kassubek J,Silani V,Turner MR,Masdeu JC. EFNS guidelines on the use of neuroimaging in the management of motor neuron diseases. Eur J Neurol. 2010 Apr. 17(4): 526-e20.
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[7]Shipe C,Zivković SA. Electrodiagnostic evaluation of motor neuron disorders. Am J Electroneurodiagnostic Technol. 2004 Mar. 44(1): 30-6.
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[8]Cornblath DR,Kuncl RW,Mellits ED,Quaskey SA,Clawson L,Pestronk A,Drachman DB. Nerve conduction studies in amyotrophic lateral sclerosis. Muscle Nerve. 1992 Oct. 15(10): 1111-5.
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[9]Daube JR. Electrodiagnostic studies in amyotrophic lateral sclerosis and other motor neuron disorders. Muscle Nerve. 2000 Oct. 23(10): 1488-502.
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鉴别诊断

[1]Pestronk A,Cornblath DR,Ilyas AA,Baba H,Quarles RH,Griffin JW,Alderson K,Adams RN. A treatable multifocal motor neuropathy with antibodies to GM1 ganglioside. Ann Neurol. 1988 Jul. 24(1): 73-8.
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[2]Kornberg AJ,Pestronk A. The clinical and diagnostic role of anti-GM1 antibody testing. Muscle Nerve. 1994 Jan. 17(1): 100-4.
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[3]Gourie-Devi M,Nalini A. Long-term follow-up of 44 patients with brachial monomelic amyotrophy. Acta Neurol Scand. 2003 Mar. 107(3): 215-20.
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[4]Blexrud MD,Windebank AJ,Daube JR. Long-term follow-up of 121 patients with benign fasciculations. Ann Neurol. 1993 Oct. 34(4): 622-5.
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[5]Bartholdi D,Gonzalez H,Borg K,Melki J. Absence of SMN gene deletion in post-polio syndrome. Neuromuscul Disord. 2000 Feb. 10(2): 99.
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[6]Gordon PH,Cheng B,Katz IB,Pinto M,Hays AP,Mitsumoto H,Rowland LP. The natural history of primary lateral sclerosis. Neurology. 2006 Mar 14. 66(5): 647-53.
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[7]Tartaglia MC,Rowe A,Findlater K,Orange JB,Grace G,Strong MJ. Differentiation between primary lateral sclerosis and amyotrophic lateral sclerosis: examination of symptoms and signs at disease onset and during follow-up. Arch Neurol. 2007 Feb. 64(2): 232-6.
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[8]Gotkine M,Argov Z. Clinical differentiation between primary lateral sclerosis and upper motor neuron predominant amyotrophic lateral sclerosis. Arch Neurol. 2007 Oct. 64(10): 1545; author reply 1545.
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治疗细则

[1]Miller RG,Mitchell JD,Moore DH. Riluzole for amyotrophic lateral sclerosis (ALS)/motor neuron disease (MND). Cochrane Database Syst Rev. 2000. (2): CD001447.
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[2]Miller RG,Jackson CE,Kasarskis EJ,England JD,Forshew D,Johnston W,Kalra S,Katz JS,Mitsumoto H,Rosenfeld J,Shoesmith C,Strong MJ,Woolley SC. 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 Oct 13. 73(15): 1218-26.
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[3]Miller RG,Mitchell JD,Lyon M,Moore DH. Riluzole for amyotrophic lateral sclerosis (ALS)/motor neuron disease (MND). Cochrane Database Syst Rev. 2002. (2): CD001447.
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[4]Bensimon G,Lacomblez L,Meininger V. A controlled trial of riluzole in amyotrophic lateral sclerosis. ALS/Riluzole Study Group. N Engl J Med. 1994 Mar 3. 330(9): 585-91.
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[5]. Practice advisory on the treatment of amyotrophic lateral sclerosis with riluzole: report of the Quality Standards Subcommittee of the American Academy of Neurology. Neurology. 1997 Sep. 49(3): 657-9.
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[6]Weber G,Bitterman H. Riluzole-induced neutropenia. Neurology. 2004 May 11. 62(9): 1648.
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[7]Munroe CA,Sirdofsky MD,Kuru T,Anderson ED. End-of-life decision making in 42 patients with amyotrophic lateral sclerosis. Respir Care. 2007 Aug. 52(8): 996-9.
pubmed摘要 | PDF全文
[8]中华医学会神经病学分会肌电图与临床神经电生理学组, 中华医学会神经病学分会神经肌肉病学组. 中国肌萎缩侧索硬化诊断和治疗指南. 中华神经科杂志. 2012. 45(7): 531-533.
[9]Radunovic A,Annane D,Jewitt K,Mustfa N. Mechanical ventilation for amyotrophic lateral sclerosis/motor neuron disease. Cochrane Database Syst Rev. 2009 Oct 7. (4): CD004427.
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[10]Aboussouan LS,Khan SU,Meeker DP,Stelmach K,Mitsumoto H. Effect of noninvasive positive-pressure ventilation on survival in amyotrophic lateral sclerosis. Ann Intern Med. 1997 Sep 15. 127(6): 450-3.
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[11]Rabinstein AA,Wijdicks EF. Warning signs of imminent respiratory failure in neurological patients. Semin Neurol. 2003 Mar. 23(1): 97-104.
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[12]McKim DA,Road J,Avendano M,Abdool S,Cote F,Duguid N,Fraser J,Maltais F,Morrison DL,O'Connell C,Petrof BJ,Rimmer K,Skomro R. Home mechanical ventilation: a Canadian Thoracic Society clinical practice guideline. Can Respir J. 2011 Jul-Aug. 18(4): 197-215.
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[13]Simon ST,Higginson IJ,Booth S,Harding R,Bausewein C. Benzodiazepines for the relief of breathlessness in advanced malignant and non-malignant diseases in adults. Cochrane Database Syst Rev. 2010 Jan 20. (1): CD007354.
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[14]Lee CN. Reviewing evidences on the management of patients with motor neuron disease. Hong Kong Med J. 2012 Feb. 18(1): 48-55.
pubmed摘要 | 全文链接
[15]Tysnes OB. Treatment of sialorrhea in amyotrophic lateral sclerosis. Acta Neurol Scand Suppl. 2008. 188(): 77-81.
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[16]Miller RG,Jackson CE,Kasarskis EJ,England JD,Forshew D,Johnston W,Kalra S,Katz JS,Mitsumoto H,Rosenfeld J,Shoesmith C,Strong MJ,Woolley SC. Practice parameter update: the care of the patient with amyotrophic lateral sclerosis: multidisciplinary care, symptom management, and cognitive/behavioral impairment (an evidence-based review): report of the Quality Standards Subcommittee of the American Academy of Neurology. Neurology. 2009 Oct 13. 73(15): 1227-33.
pubmed摘要 | 全文链接
[17]Bushara KO. Sialorrhea in amyotrophic lateral sclerosis: a hypothesis of a new treatment--botulinum toxin A injections of the parotid glands. Med Hypotheses. 1997 Apr. 48(4): 337-9.
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[18]Lipp A,Trottenberg T,Schink T,Kupsch A,Arnold G. A randomized trial of botulinum toxin A for treatment of drooling. Neurology. 2003 Nov 11. 61(9): 1279-81.
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预后

[1]Turner MR,Parton MJ,Shaw CE,Leigh PN,Al-Chalabi A. Prolonged survival in motor neuron disease: a descriptive study of the King's database 1990-2002. J Neurol Neurosurg Psychiatry. 2003 Jul. 74(7): 995-7.
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[2]Chiò A,Logroscino G,Hardiman O,Swingler R,Mitchell D,Beghi E,Traynor BG. Prognostic factors in ALS: A critical review. Amyotroph Lateral Scler. 2009 Oct-Dec. 10(5-6): 310-23.
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[3]Katzberg HD,Benatar M. Enteral tube feeding for amyotrophic lateral sclerosis/motor neuron disease. Cochrane Database Syst Rev. 2011 Jan 19. (1): CD004030.
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[4]Qiao L,Zhang J,Fan DS. [Survival prediction and related risk factors of amyotrophic lateral sclerosis:analysis of 65 cases]. Zhonghua Yi Xue Za Zhi. 2008 Mar 18. 88(11): 742-5.
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[5]Eisen A,Schulzer M,MacNeil M,Pant B,Mak E. Duration of amyotrophic lateral sclerosis is age dependent. Muscle Nerve. 1993 Jan. 16(1): 27-32.
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[6]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 Mar. 77(3): 390-2.
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