The diagnosis of Amyotrophic Lateral Sclerosis

Archives Italiennes de Biologie

Volumn 149, Issue 1, 2011, Pages 5-27

  Silani, V ^a   Messina, S ^a   Poletti, B ^a   Morelli, C ^a   Doretti, A ^a   Ticozzi, N ^a   Maderna, L ^a  

^a UNIVERSITY OF MILAN   (Italy)

Author keywords

Amyotrophic lateral sclerosis; Diagnosis; Genetics; Neuroimaging; Neurophysiology

Indexed keywords

BIOLOGICAL MARKER; DNA BINDING PROTEIN; PROTEIN TDP-43; TAR DNA BINDING PROTEIN; UBIQUITIN;

AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CLASSIFICATION; COGNITIVE DEFECT; EARLY DIAGNOSIS; GENETICS; HUMAN; METABOLISM; MOTOR NEURON DISEASE;

AMYOTROPHIC LATERAL SCLEROSIS; BIOLOGICAL MARKERS; COGNITION DISORDERS; DNA-BINDING PROTEINS; EARLY DIAGNOSIS; HUMANS; MOTOR NEURON DISEASE; UBIQUITIN;

EID: 79952823629     PISSN: 00039829     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (145)

1. Abe K., Fujimura H., Kobayashi Y., Fujita N., Yanagihara T. Degeneration of the pyramidal tracts in patients with amyotrophic lateral sclerosis. A premortem and postmortem magnetic resonance imaging study. J. Neuroimaging, 7: 208-212, 1997. (Pubitemid 27449660)
2. Abhinav K., Stanton B., Johnston C., Hardstaff J., Orrell R.W., Howard R., Clarke J., Sakel M., Ampong M.A., Shaw C.E., Leigh P.N., Al-Chalabi A. Amyotrophic lateral sclerosis in South-East England: a population-based study. The SouthEast England register for amyotrophic lateral sclerosis (SEALS Registry). Neuroepidemiology, 29: 44-48, 2007. (Pubitemid 350191416)
3. Abrahams S., Goldstein L.H., Kew J.J.M. Brooks D.J., Lloyd C.M., Frith C.D., Leigh P N. Frontal lobe dysfunction in amyotrophic lateral sclerosis: a PET study. Brain, 119: 2105-2120, 1996.
4. Abrahams S., Leigh P.N, Harvey A., Vythelingum G.N., Grisé D, Goldstein L.H. Verbal fluency and executive dysfunction in amyotrophic lateral sclerosis. Neuropsychologia, 38: 734-747, 2000. (Pubitemid 30109452)
5. Abrahams S., Goldstein L.H., Simmons A., Brammer M, Williams S.C., Giampietro V., Leigh P.N. Word retrieval in amyotrophic lateral sclerosis: a functional magnetic resonance imaging study. Brain, 127: 1507-1517, 2004. (Pubitemid 38899404)
6. Abrahams S., Leigh P.N., Goldstein L.H. Cognitive change in ALS: a prospective study. Neurology, 64: 1222-1226, 2005.
7. Agosta F., Chiò A., Cosottini M., De Stefano M., Falini A., Mascalchi M., Rocca M.A., Silani V., Tedeschi G., Filippi M. The present and the future of neuroimaging in amyotrophic lateral sclerosis. Am. J. Neuroradiol., Apr 1 as 10.3174/ajnr. A2043., 2010.
8. Beghi E., Millul A., Micheli A., Vitelli E., Logroscino G. Incidence of ALS in Lombardy, Italy. Neurology, 68: 141-145, 2007. (Pubitemid 46071899)
9. Ben Hamida M., Hentati F., Ben Hamida C. Hereditary motor system diseases (chronic juvenile amyotrophic lateral sclerosis). Conditions combining a bilateral pyramidal syndrome with limb and bulbar amyotrophy. Brain, 113: 347-363, 1990. (Pubitemid 20136146)
10. Borasio G.D., Shaw P.J. Hardiman O., Ludolph A., Sales Luis M.L., Silani V., for the European ALS Study Group. Standards of palliative care for patients with amyotrophic lateral sclerosis: results of a European survey. Amyotroph. Lateral Scler. Other Motor Neuron Disord., 2: 159-164, 2001. (Pubitemid 34013610)
11. Bromberg M.B. and Brownell A.A. Motor unit number estimation in the assessment of performance and function in motor neuron disease. Physical Medicine and Rehabilitation Clinics of North America, 2008, 19: 509-532. (Pubitemid 351952450)
12. Brooks B.R. 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., 124 (Suppl): 96-107, 1994.
13. Brooks B.R., Miller R.G., Swash M., Munsat T.L. El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord, 1: 293-299, 2000.
14. Cappellari A., Ciammola A., Silani V. The pseudopolyneuritic form of amyotrophic lateral sclerosis (Patrikios' disease). Electromyogr. Clin. Neurophysiol., 48: 75-81, 2008. (Pubitemid 351454583)
15. Chance P.F., Rabin B.A., Ryan S.G., Ding Y., Scavina M., Crain B., Griffin J.W. Cornblath D.R: Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34. Am. J. Hum. Genet., 62: 633-640, 1998. (Pubitemid 28164621)
16. Chancellor A.M., Slattery J.M., Fraser H., Swingler R.J., Holloway S.M., Warlow C.P. The prognosis of adult-onset motor neuron disease: a prospective study based on the Scottish Motor Neuron Disease Register. J. Neurol., 240: 339-346, 1993. (Pubitemid 23230381)
17. Chang J.L., Lomen-Hoerth C., Murphy J., Henry R.G., Kramer J.H., Miller B.L., Gorno-Tempini M.L. Avoxel-based morphometry study of patterns of brain atrophy in ALS and ALS/FTLD. Neurology, 5: 75-80, 2005. (Pubitemid 40967780)
18. Chen R., Grand'Maison F., Strong M.J., Ramsay D.A., Bolton C.F. Motor neuron disease presenting as acute respiratory failure: a clinical and pathological study. J. Neurol. Neurosurg. Psychiatry, 60: 455-458, 1996. (Pubitemid 26118759)
19. Chen Y.Z., Bennett C.L., Huynh H.M., Blair I.P., Puls I., Irobi J., Dierick I., Abel A., Kennerson M.L., Rabin B.A., Nicholson G.A. Auer-Grumbach M., Wagner K., De Jonghe P., Griffin J.W., Fischbeck K.H., Timmerman V., Cornblath D.R., Chance P.F. DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). Am. J. Hum. Genet., 74: 1128-1135, 2004. (Pubitemid 38669312)
20. Chiò A. and Silani V. Amyotrophic Lateral Sclerosis (ALS) care in Italy: a nationwide study in neurological centers. J. Neurol. Sci., 191: 145-150, 2001. (Pubitemid 33035908)
21. Couratier P., Truong C., Khalil M., Deviere F., Vallat J.M. Clinical features of flail arm syndrome. Muscle Nerve, 23: 646-648, 2000.
22. Cornblath D.R., Kuncl R.W., Mellits E.D., Quaskey S.A., Clawson L., Pestronk A., Drachman D.B. Nerve conduction studies in amyotrophic, lateral sclerosis. Muscle Nerve, 15: 1111-1115, 1992.
23. Corrado L., Del Bo R., Castellotti B., Ratti A., Cereda C., Penco S., Soraru G., Carlomagno Y., Grezzi S., Pensato V., Colombrita C., Gagliardi S., Cozzi L., Orsetti V., Mancuso M., Siciliano G., Mazzini L., Comi G.P., Gellera C., Ceroni M., D'Alfonso S., Silani V. Mutations of FUS Gene in Sporadic Amyotrophic Lateral Sclerosis. J. Medical Genetics, 47: 190-194, 2010.
24. Cummings J.L., Mega M., Gray K., Rosenberg-Thompson S., Carusi D.A., Gornbein J. The neuropsychiatric inventory: comprehensive assessment of psychopathology in dementia. Neurology, 44: 2308-2314, 1994. (Pubitemid 24382728)
25. Dalakas M.C., Hatazawa J., Brooks R.A., Di Chiro G. Lowered cerebral glucose utilization in amyotrophic lateral sclerosis. Ann. Neurol., 22: 471-474. 1987.
26. Davenport R.J., Swingler R.J., Chancellor A.M., Warlow C.P. Avoiding false positive diagnoses of motor neuron disease: lessons from the Scottish Motor Neuron Disease Register. J. Neurol. Neurosurg. Psychiatry, 60: 147-151, 1996. (Pubitemid 26044186)
27. de Carvalho M., Matias T., Coelho F., Evangelista T., Pinto A., Luis M.L. Motor neuron disease presenTedeschi G., Filippi M. The present and the future of neuroimaging in amyotrophic lateral sclerosis. Am. J. Neuroradiol., Apr 1 as 10.3174/ajnr. A2043., 2010.
28. de Carvalho M. and Swash M. Nerve conduction studies in amyotrophic lateral sclerosis. Muscle Nerve, 23: 344-352, 2000. (Pubitemid 30126979)
29. de Carvalho M., Johnsen B., Fuglsang-Frederiksen A. Medical technology assessment. Electrodiagnosis in motor neuron diseases and amyotrophic lateral sclerosis. Neurophysiol. Clin., 31: 341-348, 2001. (Pubitemid 33054612)
30. de Carvalho M., Dengler R., Eisen A., England J.D., Kaji R., Kimura J., Mills K., Mitsumoto H., Nodera H., Shefner J., Swash M. Electrodiagnostic criteria for diagnosis of ALS. Clin. Neurophysiol., 119: 497-503, 2008.
31. Eisen A.A. and Shtybel W. AAEM minimonograph #35: Clinical experience with transcranial magnetic stimulation. Muscle Nerve, 13: 995-1011, 1990. (Pubitemid 20356211)
32. Ellis C.M., Simmons A., Andrews C., Dawson J.M., Williams S.C., Leigh P.N. A proton magnetic resonance spectroscopic study in ALS: correlation with clinical findings. Neurology, 51: 1104-1109, 1998. (Pubitemid 28473408)
33. Ellis C.M., Simmons A., Jones D.K., Bland J., Dawson J.M., Horsfield M.A., Williams S.C., Leigh P.N. Diffusion tensor MRI assesses corticospinal tract damage in ALS. Neurology, 53: 1051-1058, 1999. (Pubitemid 29442122)
34. Forbes R.B., Colville S., Swingler R.J. The epidemiology of amyotrophic lateral sclerosis (ALS/MND) in people aged 80 or over. Age Ageing, 33: 131-134, 2004. (Pubitemid 38313110)
35. Flaherty-Craig C., Eslinger P., Stephens B., Simmons Z. A rapid screening battery to identify frontal dysfunction in patients with ALS. Neurology, 67: 2070-72, 2006. (Pubitemid 44967396)
36. Frank B., Haas J., Heinze H., Stark E,. Münte T.F. Relation of neuropsycological and magnetic resonance findings in amyotrophic lateral sclerosis: evidence for subgroups. Clin. Neurol. Neurosurg., 99: 79-86, 1997. (Pubitemid 27284490)
37. Goodin D.S., Rowley H.A., Olney R.K. Magnetic resonance imaging in amyotrophic lateral sclerosis. Ann. Neurol., 23: 418-420, 1988. (Pubitemid 18098258)
38. Gordon P.H., Cheng B., Katz I.B., Pinto M., Hays A.P., Mitsumoto H., Rowland L.P. The natural history of primary lateral sclerosis. Neurology, 66: 647-653, 2006. (Pubitemid 43739816)
39. Gordon P.H., WangY., Doorish C., Lewis M., Battista V., Mitsumoto H,. Marder K. A screening assessment of cognitive impairment in patients with ALS. Amyotroph. Lateral Scler., 8: 362-365, 2007. (Pubitemid 350176935)
40. Gourie-Devi M., Nalini A., Sandhya S. Early or late appearance of "dropped head syndrome" in amyotrophic lateral sclerosis. J. Neurol. Neurosurg. Psychiatry, 74: 683-686, 2003.
41. Gouveia L.O. and De Carvalho M. Young-onset sporadic amyotrophic lateral sclerosis: A distinct nosological entity? Amyotroph. Lateral Scler., 8: 323-327, 2007. (Pubitemid 350176929)
42. Greenway M.J., Alexander M.D., Ennis S., Traynor B.J., Corr B., Frost E., Green A., Hardiman O. A novel candidate region for ALS on chromosome 14q11.2. Neurology, 63: 1936-1938, 2004. (Pubitemid 39532395)
43. Greenway M.J., Andersen P.M., Russ C., Ennis S., Cashman S., Donaghy C., Patterson V., Swingler R., Kieran D., Prehn J., Morrison K.E., Green A., Acharya K.R, Brown R.H. Jr., Hardiman O. ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis. Nat. Genet., 38: 411-413, 2006.
44. Gros-Louis F., Gaspar C., Rouleau G.A. Genetics of familial and sporadic amyotrophic lateral sclerosis. Biochim. Biophys. Acta, 1762: 956-972, 2006. (Pubitemid 44781174)
45. Grossman A.B., Woolley-Levine S., Bradley W.G., Miller R.G. Detecting neurobehavioral changes in amyotrophic lateral sclerosis. Amyotroph. Lateral Scler., 8: 56-61, 2007. (Pubitemid 46322941)
46. Guedj E., Ber I., Lacomblez L., Dubois B., Verpillat P., Didic M., Salachas F., Vera P., Hannequin D., Lotterie J.A., Puel M., Decousus M., Thomas-Antérion C., Magne C., Vercelletto M., Bernard A.M., Golfier V., Pasquier J., Michel B.F., Namer I., Sellal F., Bochet J., Volteau M., Brice A., Meininger V., French Research Network on FTD/FTD-MND, Habert M.O. Brain spect perfusion of frontotemporal dementia associated with motor neuron disease. Neurology, 69: 488-490, 2007. (Pubitemid 47450285)
47. Guidetti D., Bondavalli M., Sabadini R., Marcello N., Vinceti M., Cavalletti S., Marbini A., Gemignani F., Colombo A., Ferrari A., Vivoli G., Solimè F. Epidemiological survey of amyotrophic lateral sclerosis in the province of Reggio Emilia, Italy: influence of environmental exposure to lead. Neuroepidemiology, 15: 301-312, 1996. (Pubitemid 26356749)
48. Hadano S., Hand C.K., Osuga H., Yanagisawa Y., Otomo A., Devon R.S., Miyamoto N., Showguchi-Miyata J., Okada Y., Singaraja R., Figlewicz D.A., Kwiatkowski T., Hosler B.A., Sagie T., Skaug J., Nasir J., Brown R.H. Jr., Scherer S.W., Rouleau G. A., Hayden M.R., Ikeda J.E. A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Nat. Genet., 29: 166-173, 2001. (Pubitemid 32952653)
49. Hatazawa J., Brooks R.A., Dalakas M.C., Mansi L., Di Chiro G. Cortical motorsensory hypometabolism in amyotrophic lateral sclerosis: a PET study. J. Comput. Assist. Tomogr., 12: 630-636, 1988.
50. Haverkamp L.J., Appel V., Appel S.H: Natural history of amyotrophic lateral sclerosis in a database population. Validation of a scoring system and a model for survival prediction. Brain, 118 (Pt 3): 707-719, 1995.
51. Hentati A., Bejaoui K., Pericak-Vance M.A., Hentati F., Speer M.C., Hung W.Y., Figlewicz D.A., Haines J., Rimmler J., Ben Hamida C., Ben Hamida M., Brown R.H. Jr, Siddique T. Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35. Nat. Genet., 7: 425-428, 1994. (Pubitemid 24204421)
52. Hentati A., Ouahchi K., Pericak-Vance M.A., Nijhawan D., Ahmad A., Yang Y., Rimmler J., Hung W., Schlotter B., Ahmed A., Yang Y., Rimmler J., Hung W., Schlotter B., Ahmed A., Ben Hamida M., Hentati F., Siddique T. Linkage of a commoner form of recessive amyotrophic lateral sclerosis to chromosome 15q15-q22 markers. Neurogenetics, 2: 55-60, 1998. (Pubitemid 29067535)
53. Hu M.T., Ellis C.M., Al-Chalabi A., Leigh P.N., Shaw C.E. Flail arm syndrome: a distinctive variant of amyotrophic lateral sclerosis. J. Neurol. Neurosurg. Psychiatry, 65: 950-951, 1998.
54. Isaacs J.D., Dean A.F., Shaw C.E., Al-Chalabi A., Mills K.R., Leigh P.N. Amyotrophic lateral sclerosis with sensory neuropathy: part of a multisystem disorder? J. Neurol. Neurosurg. Psychiatry, 78: 750-753, 2007. (Pubitemid 46998852)
55. Iversen I.H., Ghanayim N., Kübler A., Neumann N., Birbaumer N., Kaiser J. A brain-computer interface tool to assess cognitive functions in completely paralyzed patients with amyotrophic lateral sclerosis, Clinical Neurophysiology, 119: 2214-2223, 2008.
56. Janko M., Trontelj J.V., Gersak K. Fasciculations in motor neuron disease: discharge rate reflects extent and recency of collateral sprouting. J. Neurol. Neurosurg. Psychiatry, 52: 1375-1381, 1989. (Pubitemid 20049110)
57. Johnston C.A., Stanton B.R., Turner M.R., Gray R., Blunt A.H., Butt D., Ampong M.A., Shaw C.E., Leigh P.N., Al-Chalabi A. Amyotrophic lateral sclerosis in an urban setting: a population based study of inner city London. J. Neurol., 253: 1642-1643, 2006. (Pubitemid 46116727)
58. Kabashi E., Valdmanis P.N., Dion P., Spiegelman D., McConkey B.J., Velde C. Vande, Bouchard J.P., Lacomblez L., Pochigaeva K., Salachas F, Pradat P.F., Camu W., Meininger V., Dupre N., Rouleau G.A. TARDBP mutations in individuals with sporadic and familialamyotrophic lateral sclerosis. Nat. Genet., 40: 572-574, 2008. (Pubitemid 351601218)
59. Kalra S. and Arnold D. Neuroimaging in amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis, 4: 243-248, 2003. (Pubitemid 37428479)
60. Katz J.S., Wolfe G.I., Andersson P.B., Saperstein D.S., Elliott J.L., Nations S.P., Bryan W.W., Barohn R.J. Brachial amyotrophic diplegia: a slowly progressive motor neuron disorder. Neurology, 53: 1071-1076, 1999. (Pubitemid 29442125)
61. Kertesz A., Davidson W., Fox H. Frontal behavioural inventory: diagnostic criteria for frontal lobe dementia. Can. J. Neurol. Sci., 24: 29-36, 1997. (Pubitemid 27105311)
62. Kew J.J., Goldstein L.H., Leigh P.N., Abrahams S., Cosgrave N., Passingham R.E., Frackowiak RS, Brooks DJ. The relationship between abnormalities of cognitive function and cerebral activation in amyotrophic lateral sclerosis. A neuropsychological and positron emission tomography study. Brain, 116: 1399-1423, 1993. (Pubitemid 24038859)
63. Kilani M., Micallef J., Soubrouillard C., Rey-Lardiller D., Demattei C., Dib M., Philippot P., Ceccaldi M., Pouget J., Blin O. A longitudinal study of the evolution of cognitive function and affective state in patients with amyotrophic lateral sclerosis. Amyotroph. Lateral Scler. Other Motor Neuron Disord., 5: 46-54, 2004. (Pubitemid 38618735)
64. Kobayashi M., Ikeda K., Kinoshita M., Iwasaki Y. Amyotrophic lateral sclerosis with supranuclear ophthalmoplegia and rigidity. Neurol. Res., 21: 661-664, 1999. (Pubitemid 29510837)
65. Kuzuhara S. and Kokubo Y. Atypical parkinsonism of Japan: amyotrophic lateral sclerosis parkin- sonism-dementia complex of the Kii peninsula of Japan (Muro disease): an update. Mov. Disord., 20 (Suppl 12): S108-113, 2005. (Pubitemid 41419563)
66. Kwiatkowski T.J. Jr, Bosco D.A., Leclerc A.L., Tamrazian E., Vanderburg C.R., Russ C., Davis A., Gilchrist J., Kasarskis E.J., Munsat T., Valdmanis P., Rouleau G.A., Hosler B.A., Cortelli P., de Jong P.J., Yoshinaga Y., Haines J.L., Pericak-Vance M.A., Yan J., Ticozzi N., Siddique T., McKenna-Yasek D., Sapp P.C., Horvitz H.R., Landers J.E., Brown R.H. Jr. Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science, 323: 1205-1208, 2009.
67. Lambert E.H. and Mulder D.W. Electromyographic studies in amyotrophic lateral sclerosis. Proc. Staff Meet. Mayo Clin., 32: 441-446, 1957.
68. Le Forestier N., Maisonobe T., Piquard A., Rivaud S., Crevier-Buchman L., Salachas F., Pradat P.F., Lacomblez L., Meininger V. Does primary lateral sclerosis exist? A study of 20 patients and a review of the literature. Brain, 124: 1989-1999, 2001a. (Pubitemid 32958516)
69. Le Forestier N., Maisonobe T., Spelle L., Lesort A., Salachas F., Lacomblez L., Samson Y., Bouche P., Meininger V. Primary lateral sclerosis: further clarification. J. Neurol. Sci., 185: 95-100, 2001b. (Pubitemid 32318513)
70. Li T.M., Alberman E., Swash M. Comparison of sporadic and familial disease amongst 580 cases of motor neuron disease. J. Neurol. Neurosurg. Psychiatry, 51: 778-784, 1988.
71. Lloyd C.M., Richardson M.P., Brooks D.J., Al-Chalabi A., Leigh P.N. Extramotor involvement in ALS: pet studies with the GABA(A) ligand [(11)C]flumazenil. Brain, 123: 2289-96, 2000.
72. Logroscino G., Traynor B.J., Hardiman O., Chiò A., Couratier P., Mitchell J.D., Swingler R.J., Beghi E., for EURALS. Descriptive epidemiology of amyotrophic lateral sclerosis: new evidence and unsolved issues. J. Neurol. Neurosurg. Psychiatry, 79: 6-11, 2008.
73. Lomen-Hoerth C., Murphy J., Langmore S., Kramer J.H., Olney R.K., Miller B. Are amyotrophic lateral sclerosis patients cognitively normal? Neurology, 60:1094-1097, 2003. (Pubitemid 36418766)
74. Ludolph A.C., Langen K.J., Regard M., Herzog H., Kemper B., Kuwert T., Böttger I.G., Feinendegen L. Frontal lobe function in amyotrophic lateral sclerosis: a neurocognitive and positron emission tomography study. Acta Neurol. Scand., 85: 81-89, 1992.
75. Lule D., Diekmann V., Anders S., Kassubek J., Kübler A., Ludolph A.C, Birbaumer N. Brain responses to emotional stimuli in patients with amyotrophic lateral sclerosis (ALS). J. Neurol., 254: 519-527, 2007. (Pubitemid 46786730)
76. Mantovan M.C., Baggio L., Barba G., Smith P., Pegoraro E., Sorarù G., Bonometto P., Angelini C. Memory deficits and retrieval processes in ALS. Eur. J. Neurol., 10: 221-227, 2003. (Pubitemid 36609475)
77. Maruyama H., Morino H., Ito H., Izumi Y., Kato H., Watanabe Y., Kinoshita Y., Kamada M., Nodera H., Suzuki H., Komure O., Matsuura S., Kobatake K., Morimoto N., Abe K., Suzuki N., Aoki M., Kawata A., Hirai T., Kato T., Ogasawara K., Hirano A., Takumi T., Kusaka H., Hagiwara K., Kaji R., Kawakami H. Mutations of optineurin in amyotrophic lateral sclerosis. Nature, 465: 223-226, 2010.
78. Massman P.J., Sims J., Cooke N., Haverkamp L.J., Appel V., Appel S.H. Prevalence and correlates of neuropsychological deficits in amyotrophic lateral sclerosis. J. Neurol. Neurosurg. Psychiatry, 61: 450-455, 1996. (Pubitemid 26394900)
79. McCullagh S., Moore M., Gawel M., Feinstein A. Pathological laughing and crying in amyotrophic lateral sclerosis: an association with prefrontal cognitive dysfunction. J. Neurol. Sci., 169: 43-48, 1999. (Pubitemid 29502505)
80. Millecamps S., Salachas F., Cazeneuve C., Gordon P., Bricka B., Camuzat A., Guillot-Noël L., Russaouen O., Bruneteau G., Pradat P.F., Le Forestier N., Vandenberghe N., Danel-Brunaud V., Guy N., Thauvin-Robinet C., Lacomblez L., Couratier P., Hannequin D., Seilhean D., Le Ber I., Corcia P., Camu W., Brice A., Rouleau G., Leguern E., Meininger V. SOD1, ANG, VAPB, TARDBP, and FUS muattions in familial amyotrophic lateral sclerosis: genotypephenotype correlations. J. Med. Genet., 47: 554-560, 2010.
81. Mills K.R. and Nithi K.A. Peripheral and central motor conduction in amyotrophic lateral sclerosis. J. Neurol. Sci., 159: 82-87, 1998. (Pubitemid 28365888)
82. Mitchell J., Paul P., Chen H.J., Morris A., Payling M., Falchi M., Habgood J., Panoutsou S., Winkler S., Tisato V., Hajitou A., Smith B., Vance C., Shaw C., Mazarakis N.D., de Belleroche J. Familial amyotrophic lateral sclerosis is associated with a mutation in D-amino acid oxidase. Proc. Natl. Acad. Sci. U.S.A., 107: 7556-7561, 2010.
83. Moretti R., Torre P., Antonello R.M., De Masi R., Cazzato G. Complex cognitive disruption in motor neuron disease. Dement. Geriatr. Cogn. Disord., 14:141-150, 2002.
84. Mulder D.W., Kurland L.T., Offord K.P., Beard C.M. Familial adult motor neuron disease: amyotrophic lateral sclerosis. Neurology, 36: 511-517, 1986. (Pubitemid 16070005)
85. Munch C., Sedlmeier R., Meyer T., Homberg V., Sperfeld A.D., Kurt A., Prudlo J., Peraus G., Hanemann C.O., Stumm G., Ludolph A.C. Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS. Neurology, 63: 724-726, 2004. (Pubitemid 39100836)
86. Murphy J.M., Henry R.G., Lomen-Hoerth C. Establishing subtypes of the continuum of frontal lobe impairment in amyotrophic lateral sclerosis. Arch. Neurol., 64: 330-334, 2007a. (Pubitemid 46425686)
87. Murphy J.M., Henry R.G., Langmore S., Kramer J.H., Miller B.L., Lomen-Hoerth C. Continuum of frontal lobe impairment in amyotrophic lateral sclerosis. Arch. Neurol., 64: 530-534, 2007b. (Pubitemid 46588341)
88. Neary D., Snowden J.S, Gustafson L. Passant U., Stuss D., Black S., Freedman M., Kertesz A., Robert P.H., Albert M., Boone K., Miller B.L., Cummings J., Benson D.F. Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria. Neurology, 51: 1546-1554, 1998.
89. Neary D., Snowden J.S., Mann D.M.A. Cognitive change in motor neuron disease/amyotrophic lateral sclerosis. J. Neurol. Sci., 180: 15-20, 2000.
90. Nishimura A.L., Mitne-Neto M., Silva H.C., RichieriCosta A., Middleton S., Cascio D., Kok F., Oliveira J.R., Gillingwater T., Webb J., Skehel P., Zatz M. A mutation in the vesicle-trafficking protein VAPB causes late onset spinal muscular atrophy and amyotrophic lateral sclerosis. Am. J. Hum. Genet., 75: 822-883, 2004.
91. Norris F., Shepherd R., Denys E., UK, Mukai E., Elias L., Holden D., Norris H. Onset, natural history and outcome in idiopathic adult motor neuron disease. J. Neurol. Sci., 118: 48-55, 1993. (Pubitemid 23269966)
92. Oba H., Araki T., Ohtomo K., Monzawa S., Uchiyama G., Koizumi K., Nogata Y., Kachi K., Shiozawa Z., Kobayashi M. Amyotrophic lateral sclerosis: T2 shortening in motor cortex at MR imaging. Radiology, 189: 843-846, 1993. (Pubitemid 23354505)
93. Okuda B., Yamamoto T., Yamasaki M., Maya K., Imai T. Motor neuron disease with slow eye movements and vertical gaze palsy. Acta Neurol. Scand., 85: 71-76, 1992.
94. Ohnishi T., Hoshi H., Jinnouchi S., Nagamachi S., Watanabe K., Mituyama Y. The utility of cerebral blood flow imaging in patients with the unique syndrome of progressive dementia with motor neuron disease. J. Nucl. Med., 31: 688-691, 1990. (Pubitemid 20179714)
95. Orlacchio A., Babalini C., Borreca A., Patrono C., Massa R., Basaran S., Munhoz R.P., Rogaeva E.A., St George-Hyslop P.H., Bernardi G, Kawarai T. SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis. Brain, 133 (Pt 2), 591-598, 2010.
96. Osei-Lah A.D., Turner M.R., Andersen P.M., Leigh P.N., Mills K.R. A novel central motor conduction abnormality in D90Ahomozygous patients with amyotrophic lateral sclerosis. Muscle Nerve, 29: 790-794, 2004. (Pubitemid 38720815)
97. Patten S.B., Svenson L.W, White C.M., Khaled S.M., Metz L.M. Affective disorders in motor neuron disease: a population-based study. Neuroepidemiology, 28: 1-7, 2007. (Pubitemid 46221022)
98. Plato C.C., Garruto R.M., Galasko D., Craig U.K., Plato M., Gamst A., Torres J.M., Wiederholt W. Amyotrophic lateral sclerosis and parkinsonismdementia complex of Guam: changing incidence rates during the past 60 years. Am. J. Epidemiol., 157: 149-157, 2003. (Pubitemid 36077446)
99. Polkey M.I., Lyall R.A., Moxham J., Leigh P.N. Respiratory aspects of neurological disease. J. Neurol. Neurosurg. Psychiatry, 66: 5-15. 1999. (Pubitemid 29101479)
100. Poloni M., Capitani E., Mazzini L, Ceroni M. Neuropsychological measures in amyotrophic lateral sclerosis and their relationship with CT scanassessed cerebral atrophy. Acta Neurol. Scand., 74: 257-260, 1986. (Pubitemid 17198880)
101. Poletti B., Maringelli F., Lafronza A., Lombardi C., Meriggi P., Silani V. Anti-saccade paradigm in the cognitive frontal assessment of Amyotrophic Lateral Sclerosis. Amyotroph. Lateral Scler. other Motor Neuron Disord., 10 (suppl 1): 45, 2009.
102. Portet F., Cadilhac C., Touchon J., Camu W. Cognitive impairment in motor neuron disease with bulbar onset. Amyotroph. Lateral Scler. Other Motor Neuron Disord., 2: 23-29, 2001. (Pubitemid 32472145)
103. Pringle C.E., Hudson A.J., Munoz D.G., Kiernan J.A., Brown W.F., Ebers G.C. Primary lateral sclerosis. Clinical features, neuropathology and diagnostic criteria. Brain, 115 (Pt 2): 495-520, 1992.
104. Phukan J., Pender N.P., Hardiman O. Cognitive impairment in amyotrophic lateral sclerosis. Lancet Neurol., 6: 994-1003, 2007. (Pubitemid 47562321)
105. Pugdahl K., Fuglsang-Frederiksen A., de Carvalho M., Johnsen B., Fawcett P.R., Labarre-Vila A., Liguori R., Nix W.A., Schofield I.S. Generalised sensory system abnormalities in amyotrophic lateral sclerosis: a European multicentre study. J. Neurol. Neurosurg. Psychiatry, 78: 746-749, 2007. (Pubitemid 46998851)
106. Puls I., Jonnakuty C., LaMonte B.H., Holzbaur E.L., Tokito M., Mann E., Floeter M.K., Bidus K., Drayna D., Oh S.J., Brown R.H.Jr., Ludlow C.L., Fischbeck K.H. Mutant dynactin in motor neuron disease. Nat. Genet., 33: 455-456, 2003. (Pubitemid 36390002)
107. Raaphorst J., De Visser M., Linssen W.H., De Haan R.J., Schmand B. The cognitive profile of amyotrophic lateral sclerosis: A meta-analysis. Amyotroph. Lateral Scler., 11: 27-37, 2010.
108. Rakowicz W.P. and Hodges J.R. Dementia and aphasia in motor neuron disease: an underrecognised association? J. Neurol. Neurosurg. Psychiatry, 65: 881-889, 1998. (Pubitemid 128710429)
109. Ringholz G.M., Appel S.H., Bradshaw M., Cooke N.A., Mosnik D.M., Schulz P.E. Prevalence and patterns of cognitive impairment in sporadic ALS. Neurology, 65: 586-590, 2005. (Pubitemid 41170719)
110. Rippon G.A., Scarmeas N., Gordon P.H., Murphy P.L., Albert S.M., Mitsumoto H., Marder K., Rowland L.P., Stern Y. An observational study of cognitive impairment in amyotrophic lateral sclerosis. Arch. Neurol., 63: 345-352, 2006.
111. Robinson K.M., Lacey S.C., Grugan P., Glosser G., Grossman M., McCluskey L.F. Cognitive functioning in sporadic amyotrophic lateral sclerosis: a six month longitudinal study. J. Neurol. Neurosurg. Psychiatry, 77: 668-670, 2006. (Pubitemid 43844596)
112. Rosen D.R., Siddique T., Patterson D., Figlewicz D.A., Sapp P., Hentati A., Donaldson D., Goto J., O'Regan J.P., Deng H.X., Rahmani Z., Krizus A., McKenna-Yasek D., Cayabyab A., Gaston S.M., Berger R., Tanzi R.E., Halperin J.J., Herzfeldt B., Van den Bergh R., Wu-Yen H., Bird T., Deng G., Mulder D.W., Smyth C., Laing N.G., Soriano E., Pericak-Vance M.A., Haines J., Rouleau G.A., Gusella J.S., Horvitz R., Brown R.H. Jr. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature, 362: 59-62, 1993. (Pubitemid 23087289)
113. Rowland L.P. and Shneider N.A. Amyotrophic lateral sclerosis. N. Engl. J. Med., 344: 1688-1700, 2001. (Pubitemid 32479968)
114. Schreiber H., Gaigalat T., Wiedemuth-Catrinescu U., Graf M., Uttner I., Muche R., Ludolph A.C. Cognitive function in bulbarand spinal-onset amyotrophic lateral sclerosis. A longitudinal study in 52 patients. J. Neurol., 52: 772-781, 2005. (Pubitemid 40984851)
115. Sejvar J.J., Holman R.C., Bresee J.S., Kochanek K.D., Schonberger L.B. Amyotrophic lateral sclerosis mortality in the United States, 1979-2001. Neuroepidemiology, 25: 144-152, 2005. (Pubitemid 41207067)
116. Shaw P.J. Molecular and cellular pathways of neurodegeneration in motor neurone disease. J. Neurol. Neurosurg. Psychiatry, 76: 1046-1057, 2005. (Pubitemid 41081274)
117. Sreedharan J., Blair I.P., Tripathi V.B., Hu X., Vance C., Rogelj B., Ackerley S., Durnall J.C., Williams K.L., Buratti E., Baralle F., de Belleroche J., Mitchell J.D., Leigh P.N., Al-Chalabi A., Miller C.C., Nicholson G., Shaw C.E. TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science, 319: 1668-1672, 2008. (Pubitemid 351432505)
118. Steele J.C. and McGeer P.L. The ALS/PDC syndrome of Guam and the cycad hypothesis. Neurology, 70: 1984-1990, 2008.
119. Stout J.C., Ready R.E., Grace J., Malloy P.F., Paulsen J.S. Factor analysis of the frontal systems behavior scale (FrSBe). Assessment, 10: 79-85, 2003. (Pubitemid 44534450)
120. Strong M.J., Hudson A.J., Alvord W.G. Familial amyotrophic lateral sclerosis, 1850-1989: a statistical analysis of the world literature. Can. J. Neurol. Sci., 18: 45-58, 1991.
121. Strong M.J., Grace G.M., Orange J.B., Leeper H.A., Menon R.S., Aere C. A prospective study of cognitive impairment in ALS. Neurology, 53: 1665-1670, 1999. (Pubitemid 29530337)
122. Stukovnik V., Zidar J., Podnar S., Repovs G. Amyotrophic lateral sclerosis patients show executive impairments on standard neuropsychological measures and an ecologically valid motor-free test of executive functions. J. Clin. Exp. Neuropsychol., 24: 1-15, 2010.
123. Talman P., Forbes A., Mathers S. Clinical phenotypes and natural progression for motor neuron disease: Analysis from an Australian database. Amyotrophic Lateral Sclerosis, 10: 79-84, 2009.
124. Tartaglia M.C., Rowe A., Findlater K., Orange J.B., Grace G., Strong M.J. Differentiation between primary lateral sclerosis and amyotrophic lateral sclerosis: examination of symptoms and signs at disease onset and during follow-up. Arch. Neurol., 64: 232-236, 2007.
125. Thorpe J.W., Moseley I.F., Hawkes C.H., MacManus D. G., McDonald W.I., Miller D.H. Brain and spinal cord MRI in motor neuron disease. J. Neurol. Neurosurg. Psychiatry, 61: 314-317, 1996. (Pubitemid 26293729)
126. Ticozzi N., Silani V., LeClerc A.L., Keagle P., Gelelra C., Ratti A., TAroni F., Kwiatkowski T.J., Jr., McKenna-Yasek D.M., Sapp P.C., Brown R.H. Jr., Landers J.E. Analysis of FUS gene mutation in familial amyotrophic laterale sclerosis within an Italian cohort. Neurology, 73: 1180-1185, 2009.
127. Ticozzi N., LeClerc A.L., Keagle P.J., Glass J.D., Wills A.M., van Blitterswijk M, Bosco D.A., Rodriguez-Leyva I., Gellera C., Ratti A., Taroni F., McKenna-Yasek D., Sapp P.C., Silani V., Furlong C.E., Brown R.H.Jr, Landers J.E. Paroxonase gene mutations in amyotrophic lateral sclerosis. Ann. Neurol., 68: 102-107, 2010.
128. Ticozzi N., Tiloca C., Morelli C., Colombrita C., Poletti B., Doretti A., Maderna L., Messina S., Ratti A., Silani V. Genetics of Familial Amyotrophic Lateral Sclerosis. Arch. Ital. Biol., 149: 65-82, 2011 (this issue).
129. Traynor B.J., Codd M.B., Corr B., Forde C., Frost E., Hardiman O. Incidence and prevalence of ALS in Ireland, 1995-1997: a population-based study. Neurology, 52: 504-509, 1999. (Pubitemid 29075594)
130. Traynor B.J., Codd M.B., Corr B., Forde C., Frost E., Hardiman O. Amyotrophic lateral sclerosis mimic syndromes: a population-based study. Arch. Neurol., 57: 109-113, 2000a. (Pubitemid 30027638)
131. Traynor B.J., Codd M.B., Corr B., Forde C., Frost E., Hardiman O.M. Clinical features of amyotrophic lateral sclerosis according to the El Escorial and Airlie House diagnostic criteria: A population-based study. Arch. Neurol., 57: 1171-1176, 2000b. (Pubitemid 30644664)
132. Traynor B.J., Alexander M., Corr B., Frost E., Hardiman O. An outcome study of riluzole in amyotrophic lateral sclerosis - a population-based study in Ireland, 1996-2000. J. Neurol., 250: 473-479, 2003. (Pubitemid 36459755)
133. Turner M.R. and Leigh P.N. Positron emission tomography (PET) - its potential to provide surrogate markers in ALS. Amyotroph. Lateral Scler. Other Motor Neuron Disord., 1 (Suppl 2): S17-22, 2000.
134. Turner M.R., Cagnin A., Turkheimer F.E., Miller C.C., Shaw C.E., Brooks D.J., Leigh P.N., Banati R.B. Evidence of widespread cerebral microglial activation in amyotrophic lateral sclerosis: an[11C](R)-PK11195 positron emission tomography study. Neurobiol. Dis., 15: 601-609, 2004. (Pubitemid 38429975)
135. Turner M.R., Kiernan M.C., Leigh P.N., Talbot K. Biomarkers in
136. Vance C., Rogelj B., Hortobagyi T., De Vos K.J., Nishimura A.L., Sreedharan J., Hu X., Smith B., Ruddy D., Wright P., Ganesalingam J., Williams K.L., Tripathi V., Al-Saraj S., Al-Chalabi A., Leigh P.N., Blair I.P., Nicholson G., de Belleroche J., Gallo J.M., Miller C.C., Shaw C.E. Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science, 323: 1208-1211, 2009.
137. Veltema A.N., Roos R.A., Bruyn G.W. Autosomal dominant adult amyotrophic lateral sclerosis. A six generation Dutch family. J. Neurol. Sci., 97: 93-115, 1990. (Pubitemid 20190527)
138. Vucic S., and Kiernan M.C. Abnormalities in cortical and peripheral excitability in flail arm variant amyotrophic lateral sclerosis. J. Neurol. Neurosurg. Psychiatry., 78: 849-852, 2007. (Pubitemid 47204591)
139. Waragai M. MRI and clinical features in amyotrophic lateral sclerosis. Neuroradiology, 39: 847-851, 1997. (Pubitemid 27528523)
140. Waring S.C., Esteban-Santillan C., Reed D.M., Craig U.K., Labarthe D.R., Petersen R.C., Kurland L.T. Incidence of amyotrophic lateral sclerosis and of the parkinsonism-dementia complex of Guam, 1950-1989. Neuroepidemiology, 23: 192-200, 2004. (Pubitemid 38980445)
141. Wicks P., Abrahams S., Masi D., Hejda-Forde S., Leigh P.N., Goldstein L.H. Prevalence of depression in a 12-month consecutive sample of patients with ALS. Eur. J. Neurol., 14: 993-1001, 2007. (Pubitemid 47300772)
142. Worms P.M. The epidemiology of motor neuron diseases: a review of recent studies. J. Neurol. Sci., 191: 3-9, 2001. (Pubitemid 33035889)
143. Yang Y., Hentati A., Deng H.X., Dabbagh O., Sasaki T., Hirano M., Hung W.Y., Ouahchi K., Yan J., Azim A.C., Cole N., Gascon G., Yagmour A., Ben-Hamida M., Pericak-Vance M., Hentati F., Siddique T. 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, 2001. (Pubitemid 32952652)
144. Yokoseki A., Shiga A., Tan C.F., Tagawa A., Kaneko H., Koyama A., Eguchi H., Tsujino A., Ikeuchi T., Kakita A., Okamoto K., Nishizawa M., Takahashi H., Onodera O. TDP-43 mutation in familial amyotrophic lateral sclerosis. Ann. Neurol., 63: 538-542, 2008. (Pubitemid 351614721)
145. Zoccolella S., Beghi E., Palagano G., Fraddosio A., Guerra V., Samarelli V., Lepore V., Simone I.L., Lamberti P., Serlenga L., Logroscino G. Analysis of survival and prognostic factors in amyotrophic lateral sclerosis: a population based study. J. Neurol. Neurosurg. Psychiatry, 79: 33-37, 2008.