Advances in molecular pathology, diagnosis, and treatment of amyotrophic lateral sclerosis
Open accessAbstract
Although the past two decades have produced exciting discoveries in the genetics and pathology of amyotrophic lateral sclerosis (ALS), progress in developing an effective therapy remains slow. This review summarizes the critical discoveries and outlines the advances in disease characterization, diagnosis, imaging, and biomarkers, along with the current status of approaches to ALS care and treatment. Additional knowledge of the factors driving disease progression and heterogeneity will hopefully soon transform the care for patients with ALS into an individualized, multi-prong approach able to prevent disease progression sufficiently to allow for a dignified life with limited disability.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
There is no cure for ALS.
“There is no cure for ALS, and care involves a multidisciplinary team of specialists and healthcare professionals to improve the quality of life for the patient [81].”
From Extracellular vesicles as nanotheranostic platforms for targeted neurological disorder interventions (2024) · cites this paper as [81]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
The citation lists haven’t been fetched yet
References 206 · Cited by 111
Research works printed but not linked: 193
- [1]Phukan J Elamin M Bede P. The syndrome of cognitive impairment in amyotrophic lateral sclerosis: a population-based study. J Neurol Neurosurg Psychiatry 2012; 83: 102- 8. 10.1136/jnnp-2011-300188 21836033 · DOI
- [2]Lomen-Hoerth C Anderson T Miller B. The overlap of amyotrophic lateral sclerosis and frontotemporal dementia. Neurology 2002; 59: 1077- 9. 10.1212/WNL.59.7.1077 12370467 · DOI
- [3]Rascovsky K Hodges JR Knopman D. Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia. Brain 2011; 134: 2456- 77. 10.1093/brain/awr179 21810890 PMC3170532 · DOI · Paper page
- [5]Neumann M Sampathu DM Kwong LK. Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 2006; 314: 130- 3. 10.1126/science.1134108 17023659 · DOI · Paper page
- [6]Deng HX Zhai H Bigio EH. FUS-immunoreactive inclusions are a common feature in sporadic and non-SOD1 familial amyotrophic lateral sclerosis. Ann Neurol 2010; 67: 739- 48. 10.1002/ana.22051 20517935 PMC4376270 · DOI
- [7]Hardiman O Al-Chalabi A Chio A. Amyotrophic lateral sclerosis. Nat Rev Dis Primers 2017; 3: 17071. 10.1038/nrdp.2017.71 28980624 · DOI
- [8]Burrell JR Halliday GM Kril JJ. The frontotemporal dementia-motor neuron disease continuum. Lancet 2016; 388: 919- 31. 10.1016/S0140-6736(16)00737-6 26987909 · DOI
- [9]Arthur KC Calvo A Price TR Geiger JT Chiò A Traynor BJ. Projected increase in amyotrophic lateral sclerosis from 2015 to 2040. Nat Commun 2016; 7: 12408. 10.1038/ncomms12408 27510634 PMC4987527 · DOI
- [10]Xu L Liu T Liu L. Global variation in prevalence and incidence of amyotrophic lateral sclerosis: a systematic review and meta-analysis. J Neurol 2020; 267: 944- 53. 10.1007/s00415-019-09652-y 31797084 · DOI
- [11]Ravits JM La Spada AR. ALS motor phenotype heterogeneity, focality, and spread: deconstructing motor neuron degeneration. Neurology 2009; 73: 805- 11. 10.1212/WNL.0b013e3181b6bbbd 19738176 PMC2739608 · DOI
- [12]van Es MA Hardiman O Chio A. Amyotrophic lateral sclerosis. Lancet 2017; 390: 2084- 98. 10.1016/S0140-6736(17)31287-4 28552366 · DOI
- [13]Wijesekera LC Mathers S Talman P. Natural history and clinical features of the flail arm and flail leg ALS variants. Neurology 2009; 72: 1087- 94. 10.1212/01.wnl.0000345041.83406.a2 19307543 PMC2821838 · DOI
- [14]Turner MR Gerhard A Al-Chalabi A. Mills’ and other isolated upper motor neurone syndromes: in vivo study with 11C-(R)-PK11195 PET. J Neurol Neurosurg Psychiatry 2005; 76: 871- 4. 10.1136/jnnp.2004.047902 15897516 PMC1739672 · DOI
- [15]Verstraete E van den Heuvel MP Veldink JH. Motor network degeneration in amyotrophic lateral sclerosis: a structural and functional connectivity study. PLoS One 2010; 5: e13664. 10.1371/journal.pone.0013664 21060689 PMC2965124 · DOI
- [16]Turner MR Barohn RJ Corcia P Delegates of the 2nd International PLS Conference. Primary lateral sclerosis: consensus diagnostic criteria. J Neurol Neurosurg Psychiatry 2020; 91: 373- 7. 10.1136/jnnp-2019-322541 32029539 PMC7147236 · DOI
- [17]Kim WK Liu X Sandner J. Study of 962 patients indicates progressive muscular atrophy is a form of ALS. Neurology 2009; 73: 1686- 92. 10.1212/WNL.0b013e3181c1dea3 19917992 PMC2788803 · DOI · Paper page
- [18]de Carvalho M Scotto M Swash M. Clinical patterns in progressive muscular atrophy (PMA): a prospective study. Amyotroph Lateral Scler 2007; 8: 296- 9. 10.1080/17482960701452902 17852011 · DOI
- [19]Floeter MK Mills R. Progression in primary lateral sclerosis: a prospective analysis. Amyotroph Lateral Scler 2009; 10: 339- 46. 10.3109/17482960903171136 19922121 PMC3434688 · DOI
- [20]Crockford C Newton J Lonergan K. ALS-specific cognitive and behavior changes associated with advancing disease stage in ALS. Neurology 2018; 91: e1370- 80. 10.1212/WNL.0000000000006317 30209236 PMC6177274 · DOI
- [21]Mioshi E Caga J Lillo P. Neuropsychiatric changes precede classic motor symptoms in ALS and do not affect survival. Neurology 2014; 82: 149- 55. 10.1212/WNL.0000000000000023 24336140 · DOI
- [22]Abrahams S Newton J Niven E Foley J Bak TH. Screening for cognition and behaviour changes in ALS. Amyotroph Lateral Scler Frontotemporal Degener 2014; 15: 9- 14. 10.3109/21678421.2013.805784 23781974 · DOI
- [23]Woolley SC York MK Moore DH. Detecting frontotemporal dysfunction in ALS: utility of the ALS Cognitive Behavioral Screen (ALS-CBS). Amyotroph Lateral Scler 2010; 11: 303- 11. 10.3109/17482961003727954 20433413 · DOI
- [25]Mioshi E Hsieh S Caga J. A novel tool to detect behavioural symptoms in ALS. Amyotroph Lateral Scler Frontotemporal Degener 2014; 15: 298- 304. 10.3109/21678421.2014.896927 24863641 · DOI
- [27]Murphy J Ahmed F Lomen-Hoerth C. The UCSF screening exam effectively screens cognitive and behavioral impairment in patients with ALS. Amyotroph Lateral Scler Frontotemporal Degener 2015; 16: 24- 30. 10.3109/21678421.2014.960873 25301548 · DOI
- [28]Iazzolino B Pain D Peotta L. Validation of the revised classification of cognitive and behavioural impairment in ALS. J Neurol Neurosurg Psychiatry 2019; 90: 734- 9. 10.1136/jnnp-2018-319696 30733331 · DOI
- [29]Chiò A Moglia C Canosa A. Cognitive impairment across ALS clinical stages in a population-based cohort. Neurology 2019; 93: e984- 94. 10.1212/WNL.0000000000008063 31409738 PMC6745732 · DOI
- [30]Montuschi A Iazzolino B Calvo A. Cognitive correlates in amyotrophic lateral sclerosis: a population-based study in Italy. J Neurol Neurosurg Psychiatry 2015; 86: 168- 73. 10.1136/jnnp-2013-307223 24769471 · DOI
- [31]Ludolph AC Langen KJ Regard M. Frontal lobe function in amyotrophic lateral sclerosis: a neuropsychologic and positron emission tomography study. Acta Neurol Scand 1992; 85: 81- 9. 10.1111/j.1600-0404.1992.tb04003.x 1574993 · DOI
- [32]Massman PJ Sims J Cooke N Haverkamp LJ Appel V Appel SH. Prevalence and correlates of neuropsychological deficits in amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry 1996; 61: 450- 5. 10.1136/jnnp.61.5.450 8937336 PMC1074039 · DOI
- [33]Abrahams S Leigh PN Goldstein LH. Cognitive change in ALS: a prospective study. Neurology 2005; 64: 1222- 6. 10.1212/01.WNL.0000156519.41681.27 15824350 · DOI
- [34]Beeldman E Raaphorst J Klein Twennaar M de Visser M Schmand BA de Haan RJ. The cognitive profile of ALS: a systematic review and meta-analysis update. J Neurol Neurosurg Psychiatry 2016; 87: 611- 9. 10.1136/jnnp-2015-310734 26283685 · DOI · Paper page
- [35]Grossman AB Woolley-Levine S Bradley WG Miller RG. Detecting neurobehavioral changes in amyotrophic lateral sclerosis. Amyotroph Lateral Scler 2007; 8: 56- 61. 10.1080/17482960601044106 17364437 · DOI
- [36]Gibbons ZC Richardson A Neary D Snowden JS. Behaviour in amyotrophic lateral sclerosis. Amyotroph Lateral Scler 2008; 9: 67- 74. 10.1080/17482960701642437 18427998 · DOI
- [37]Witgert M Salamone AR Strutt AM. Frontal-lobe mediated behavioral dysfunction in amyotrophic lateral sclerosis. Eur J Neurol 2010; 17: 103- 10. 10.1111/j.1468-1331.2009.02801.x 19874396 · DOI
- [38]Cuddy M Papps BJ Thambisetty M Leigh PN Goldstein LH. Processing and memory for emotional and neutral material in amyotrophic lateral sclerosis. Amyotroph Lateral Scler 2012; 13: 592- 8. 10.3109/17482968.2012.708936 22873560 PMC5898366 · DOI
- [39]Burke T Pinto-Grau M Lonergan K. Measurement of Social Cognition in Amyotrophic Lateral Sclerosis: A Population Based Study. PLoS One 2016; 11: e0160850. 10.1371/journal.pone.0160850 27556398 PMC4996502 · DOI
- [40]Floeter MK Katipally R Kim MP. Impaired corticopontocerebellar tracts underlie pseudobulbar affect in motor neuron disorders. Neurology 2014; 83: 620- 7. 10.1212/WNL.0000000000000693 25008395 PMC4141995 · DOI
- [41]Christidi F Karavasilis E Ferentinos P. Investigating the neuroanatomical substrate of pathological laughing and crying in amyotrophic lateral sclerosis with multimodal neuroimaging techniques. Amyotroph Lateral Scler Frontotemporal Degener 2018; 19: 12- 20. 10.1080/21678421.2017.1386689 29034720 · DOI
- [42]Palmieri A Abrahams S Sorarù G. Emotional Lability in MND: Relationship to cognition and psychopathology and impact on caregivers. J Neurol Sci 2009; 278: 16- 20. 10.1016/j.jns.2008.10.025 19103449 · DOI
- [43]Brooks BR Miller RG Swash M Munsat TL World Federation of Neurology Research Group on Motor Neuron Diseases. El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord 2000; 1: 293- 9. 10.1080/146608200300079536 11464847 · DOI · Paper page
- [44]Carvalho MD Swash M. Awaji diagnostic algorithm increases sensitivity of El Escorial criteria for ALS diagnosis. Amyotroph Lateral Scler 2009; 10: 53- 7. 10.1080/17482960802521126 18985466 · DOI
- [45]Traynor BJ Codd MB Corr B Forde C Frost E Hardiman OM. 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- 6. 10.1001/archneur.57.8.1171 10927797 · DOI
- [46]Shefner JM Al-Chalabi A Baker MR. A proposal for new diagnostic criteria for ALS. Clin Neurophysiol 2020; 131: 1975- 8. 10.1016/j.clinph.2020.04.005 32387049 · DOI
- [47]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; 118: 707- 19. 10.1093/brain/118.3.707 7600088 · DOI
- [48]Swinnen B Robberecht W. The phenotypic variability of amyotrophic lateral sclerosis. Nat Rev Neurol 2014; 10: 661- 70. 10.1038/nrneurol.2014.184 25311585 · DOI
- [49]Chiò A Logroscino G Hardiman O Eurals Consortium. Prognostic factors in ALS: A critical review. Amyotroph Lateral Scler 2009; 10: 310- 23. 10.3109/17482960802566824 19922118 PMC3515205 · DOI · Paper page
- [50]Gallo V Wark PA Jenab M. Prediagnostic body fat and risk of death from amyotrophic lateral sclerosis: the EPIC cohort. Neurology 2013; 80: 829- 38. 10.1212/WNL.0b013e3182840689 23390184 PMC3598455 · DOI
- [51]Calvo A Canosa A Bertuzzo D. Influence of cigarette smoking on ALS outcome: a population-based study. J Neurol Neurosurg Psychiatry 2016; 87: 1229- 33. 10.1136/jnnp-2016-313793 27656044 · DOI
- [52]Lu CH Macdonald-Wallis C Gray E. Neurofilament light chain: A prognostic biomarker in amyotrophic lateral sclerosis. Neurology 2015; 84: 2247- 57. 10.1212/WNL.0000000000001642 25934855 PMC4456658 · DOI · Paper page
- [53]Benatar M Zhang L Wang L CReATe Consortium. Validation of serum neurofilaments as prognostic and potential pharmacodynamic biomarkers for ALS. Neurology 2020; 95: e59- 69. 10.1212/WNL.0000000000009559 32385188 PMC7371380 · DOI
- [54]Westeneng HJ Debray TPA Visser AE. Prognosis for patients with amyotrophic lateral sclerosis: development and validation of a personalised prediction model. Lancet Neurol 2018; 17: 423- 33. 10.1016/S1474-4422(18)30089-9 29598923 · DOI
- [55]Roche JC Rojas-Garcia R Scott KM. A proposed staging system for amyotrophic lateral sclerosis. Brain 2012; 135: 847- 52. 10.1093/brain/awr351 22271664 PMC3286327 · DOI
- [56]Chiò A Hammond ER Mora G Bonito V Filippini G. Development and evaluation of a clinical staging system for amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry 2015; 86: 38- 44. 10.1136/jnnp-2013-306589 24336810 · DOI
- [57]Balendra R Al Khleifat A Fang T Al-Chalabi A. A standard operating procedure for King’s ALS clinical staging. Amyotroph Lateral Scler Frontotemporal Degener 2019; 20: 159- 64. 10.1080/21678421.2018.1556696 30773950 PMC6558284 · DOI
- [58]Fang T Al Khleifat A Stahl DR Uk-Mnd LicalS. Comparison of the King’s and MiToS staging systems for ALS. Amyotroph Lateral Scler Frontotemporal Degener 2017; 18: 227- 32. 10.1080/21678421.2016.1265565 28054828 PMC5425622 · DOI
- [59]Balendra R Jones A Jivraj N UK-MND LiCALS Study Group, Mito Target ALS Study Group. Use of clinical staging in amyotrophic lateral sclerosis for phase 3 clinical trials. J Neurol Neurosurg Psychiatry 2015; 86: 45- 9. 10.1136/jnnp-2013-306865 24463480 · DOI
- [60]Ferraro D Consonni D Fini N Fasano A Del Giovane C Mandrioli J Emilia Romagna Registry for ALS (ERRALS) Group. Amyotrophic lateral sclerosis: a comparison of two staging systems in a population-based study. Eur J Neurol 2016; 23: 1426- 32. 10.1111/ene.13053 27238551 · DOI
- [61]Brettschneider J Arai K Del Tredici K. TDP-43 pathology and neuronal loss in amyotrophic lateral sclerosis spinal cord. Acta Neuropathol 2014; 128: 423- 37. 10.1007/s00401-014-1299-6 24916269 PMC4384652 · DOI
- [62]Lee EB Lee VM Trojanowski JQ. Gains or losses: molecular mechanisms of TDP43-mediated neurodegeneration. Nat Rev Neurosci 2011; 13: 38- 50. 10.1038/nrn3121 22127299 PMC3285250 · DOI · Paper page
- [63]de Boer EMJ Orie VK Williams T. TDP-43 proteinopathies: a new wave of neurodegenerative diseases. J Neurol Neurosurg Psychiatry 2020; 92: 86- 95. 10.1136/jnnp-2020-322983 33177049 PMC7803890 · DOI
- [65]Birsa N Bentham MP Fratta P. Cytoplasmic functions of TDP-43 and FUS and their role in ALS. Semin Cell Dev Biol 2020; 99: 193- 201. 10.1016/j.semcdb.2019.05.023 31132467 · DOI
- [66]Ling JP Pletnikova O Troncoso JC Wong PC. TDP-43 repression of nonconserved cryptic exons is compromised in ALS-FTD. Science 2015; 349: 650- 5. 10.1126/science.aab0983 26250685 PMC4825810 · DOI
- [67]Klim JR Williams LA Limone F. ALS-implicated protein TDP-43 sustains levels of STMN2, a mediator of motor neuron growth and repair. Nat Neurosci 2019; 22: 167- 79. 10.1038/s41593-018-0300-4 30643292 PMC7153761 · DOI · Paper page
- [68]Melamed Z López-Erauskin J Baughn MW. Premature polyadenylation-mediated loss of stathmin-2 is a hallmark of TDP-43-dependent neurodegeneration. Nat Neurosci 2019; 22: 180- 90. 10.1038/s41593-018-0293-z 30643298 PMC6348009 · DOI · Paper page
- [69]Brown A-L Wilkins OG Keuss MJ. Common ALS/FTD risk variants in UNC13A exacerbate its cryptic splicing and loss upon TDP-43 mislocalization. bioRxiv 2021: 2021.04.02.438170.
- [72]Rosen DR Siddique T Patterson D. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 1993; 362: 59- 62. 10.1038/362059a0 8446170 · DOI · Paper page
- [73]Turner BJ Talbot K. Transgenics, toxicity and therapeutics in rodent models of mutant SOD1-mediated familial ALS. Prog Neurobiol 2008; 85: 94- 134. 10.1016/j.pneurobio.2008.01.001 18282652 · DOI
- [74]van Zundert B Brown RH Jr. Silencing strategies for therapy of SOD1-mediated ALS. Neurosci Lett 2017; 636: 32- 9. 10.1016/j.neulet.2016.07.059 27507699 · DOI
- [76]Smith RA Miller TM Yamanaka K. Antisense oligonucleotide therapy for neurodegenerative disease. J Clin Invest 2006; 116: 2290- 6. 10.1172/JCI25424 16878173 PMC1518790 · DOI · Paper page
- [79]Smeyers J Banchi EG Latouche M. C9ORF72: What It Is, What It Does, and Why It Matters. Front Cell Neurosci 2021; 15: 661447. 10.3389/fncel.2021.661447 34025358 PMC8131521 · DOI
- [80]Van Hoecke A Schoonaert L Lemmens R. EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans. Nat Med 2012; 18: 1418- 22. 10.1038/nm.2901 22922411 · DOI
- [81]Wu D Yu W Kishikawa H. Angiogenin loss-of-function mutations in amyotrophic lateral sclerosis. Ann Neurol 2007; 62: 609- 17. 10.1002/ana.21221 17886298 PMC2776820 · DOI
- [82]Aluri KC Salisbury JP Prehn JHM Agar JN. Loss of angiogenin function is related to earlier ALS onset and a paradoxical increase in ALS duration. Sci Rep 2020; 10: 3715. 10.1038/s41598-020-60431-6 32111867 PMC7048737 · DOI
- [83]Kenna KP van Doormaal PT Dekker AM SLAGEN Consortium. NEK1 variants confer susceptibility to amyotrophic lateral sclerosis. Nat Genet 2016; 48: 1037- 42. 10.1038/ng.3626 27455347 PMC5560030 · DOI
- [84]Lee T Li YR Ingre C. Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients. Hum Mol Genet 2011; 20: 1697- 700. 10.1093/hmg/ddr045 21292779 PMC3071667 · DOI
- [85]Elden AC Kim HJ Hart MP. Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS. Nature 2010; 466: 1069- 75. 10.1038/nature09320 20740007 PMC2965417 · DOI
- [86]Narain P Gomes J Bhatia R Singh I Vivekanandan P. C9orf72 hexanucleotide repeat expansions and Ataxin 2 intermediate length repeat expansions in Indian patients with amyotrophic lateral sclerosis. Neurobiol Aging 2017; 56: 211.e9- 14. 10.1016/j.neurobiolaging.2017.04.011 28527524 · DOI
- [87]van Blitterswijk M van Es MA Hennekam EA. Evidence for an oligogenic basis of amyotrophic lateral sclerosis. Hum Mol Genet 2012; 21: 3776- 84. 10.1093/hmg/dds199 22645277 · DOI
- [88]McCann EP Henden L Fifita JA. Evidence for polygenic and oligogenic basis of Australian sporadic amyotrophic lateral sclerosis. J Med Genet 2020; jmedgenet-2020-106866. 32409511
- [89]Foerster BR Welsh RC Feldman EL. 25 years of neuroimaging in amyotrophic lateral sclerosis. Nat Rev Neurol 2013; 9: 513- 24. 10.1038/nrneurol.2013.153 23917850 PMC4182931 · DOI
- [90]Kwan JY Jeong SY Van Gelderen P. Iron accumulation in deep cortical layers accounts for MRI signal abnormalities in ALS: correlating 7 tesla MRI and pathology. PLoS One 2012; 7: e35241. 10.1371/journal.pone.0035241 22529995 PMC3328441 · DOI
- [91]Menke RA Agosta F Grosskreutz J Filippi M Turner MR. Neuroimaging Endpoints in Amyotrophic Lateral Sclerosis. Neurotherapeutics 2017; 14: 11- 23. 10.1007/s13311-016-0484-9 27752938 PMC5233627 · DOI
- [92]Turner MR Agosta F Bede P Govind V Lulé D Verstraete E. Neuroimaging in amyotrophic lateral sclerosis. Biomark Med 2012; 6: 319- 37. 10.2217/bmm.12.26 22731907 · DOI
- [93]Kalra S. Magnetic Resonance Spectroscopy in ALS. Front Neurol 2019; 10: 482. 10.3389/fneur.2019.00482 31133975 PMC6524558 · DOI
- [94]Turner MR Leigh PN. Positron emission tomography (PET)--its potential to provide surrogate markers in ALS. Amyotroph Lateral Scler Other Motor Neuron Disord 2000; 1(Suppl 2): S17- 22. 10.1080/54-14660820050515665 11464936 · DOI
- [95]Agosta F Pagani E Rocca MA. Voxel-based morphometry study of brain volumetry and diffusivity in amyotrophic lateral sclerosis patients with mild disability. Hum Brain Mapp 2007; 28: 1430- 8. 10.1002/hbm.20364 17370339 PMC6871473 · DOI
- [96]Turner MR Hammers A Allsop J. Volumetric cortical loss in sporadic and familial amyotrophic lateral sclerosis. Amyotroph Lateral Scler 2007; 8: 343- 7. 10.1080/17482960701538734 18033592 · DOI
- [97]Kwan JY Meoded A Danielian LE Wu T Floeter MK. Structural imaging differences and longitudinal changes in primary lateral sclerosis and amyotrophic lateral sclerosis. Neuroimage Clin 2012; 2: 151- 60. 10.1016/j.nicl.2012.12.003 24179768 PMC3778247 · DOI
- [98]Filippini N Douaud G Mackay CE Knight S Talbot K Turner MR. Corpus callosum involvement is a consistent feature of amyotrophic lateral sclerosis. Neurology 2010; 75: 1645- 52. 10.1212/WNL.0b013e3181fb84d1 21041787 PMC2974368 · DOI
- [99]Iwata NK Kwan JY Danielian LE. White matter alterations differ in primary lateral sclerosis and amyotrophic lateral sclerosis. Brain 2011; 134: 2642- 55. 10.1093/brain/awr178 21798965 PMC3170531 · DOI
- [100]van der Graaff MM Sage CA Caan MW. Upper and extra-motoneuron involvement in early motoneuron disease: a diffusion tensor imaging study. Brain 2011; 134: 1211- 28. 10.1093/brain/awr016 21362631 · DOI
- [101]Schuster C Kasper E Machts J. Focal thinning of the motor cortex mirrors clinical features of amyotrophic lateral sclerosis and their phenotypes: a neuroimaging study. J Neurol 2013; 260: 2856- 64. 10.1007/s00415-013-7083-z 23996101 · DOI
- [102]Walhout R Westeneng HJ Verstraete E. Cortical thickness in ALS: towards a marker for upper motor neuron involvement. J Neurol Neurosurg Psychiatry 2015; 86: 288- 94. 10.1136/jnnp-2013-306839 25121571 · DOI
- [103]Prudlo J Bißbort C Glass A. White matter pathology in ALS and lower motor neuron ALS variants: a diffusion tensor imaging study using tract-based spatial statistics. J Neurol 2012; 259: 1848- 59. 10.1007/s00415-012-6420-y 22349938 · DOI
- [104]Lillo P Mioshi E Burrell JR Kiernan MC Hodges JR Hornberger M. Grey and white matter changes across the amyotrophic lateral sclerosis-frontotemporal dementia continuum. PLoS One 2012; 7: e43993. 10.1371/journal.pone.0043993 22952843 PMC3430626 · DOI
- [105]Trojsi F Corbo D Caiazzo G. Motor and extramotor neurodegeneration in amyotrophic lateral sclerosis: a 3T high angular resolution diffusion imaging (HARDI) study. Amyotroph Lateral Scler Frontotemporal Degener 2013; 14: 553- 61. 10.3109/21678421.2013.785569 23586325 · DOI
- [106]Masuda M Senda J Watanabe H. Involvement of the caudate nucleus head and its networks in sporadic amyotrophic lateral sclerosis-frontotemporal dementia continuum. Amyotroph Lateral Scler Frontotemporal Degener 2016; 17: 571- 9. 10.1080/21678421.2016.1211151 27684890 · DOI
- [107]Alruwaili AR Pannek K Coulthard A Henderson R Kurniawan ND McCombe P. A combined tract-based spatial statistics and voxel-based morphometry study of the first MRI scan after diagnosis of amyotrophic lateral sclerosis with subgroup analysis. J Neuroradiol 2018; 45: 41- 8. 10.1016/j.neurad.2017.03.007 28802959 · DOI
- [108]Grosskreutz J Kaufmann J Frädrich J Dengler R Heinze HJ Peschel T. Widespread sensorimotor and frontal cortical atrophy in Amyotrophic Lateral Sclerosis. BMC Neurol 2006; 6: 17. 10.1186/1471-2377-6-17 16638121 PMC1459868 · DOI
- [109]Zhang Y Schuff N Woolley SC. Progression of white matter degeneration in amyotrophic lateral sclerosis: A diffusion tensor imaging study. Amyotroph Lateral Scler 2011; 12: 421- 9. 10.3109/17482968.2011.593036 21745124 PMC3804304 · DOI
- [110]Iwata NK Aoki S Okabe S. Evaluation of corticospinal tracts in ALS with diffusion tensor MRI and brainstem stimulation. Neurology 2008; 70: 528- 32. 10.1212/01.wnl.0000299186.72374.19 18268244 · DOI
- [111]Keil C Prell T Peschel T Hartung V Dengler R Grosskreutz J. Longitudinal diffusion tensor imaging in amyotrophic lateral sclerosis. BMC Neurosci 2012; 13: 141. 10.1186/1471-2202-13-141 23134591 PMC3531302 · DOI
- [112]Müller HP Turner MR Grosskreutz J Neuroimaging Society in ALS (NiSALS) DTI Study Group. A large-scale multicentre cerebral diffusion tensor imaging study in amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry 2016; 87: 570- 9. 10.1136/jnnp-2015-311952 26746186 · DOI
- [113]Mezzapesa DM D’Errico E Tortelli R. Cortical thinning and clinical heterogeneity in amyotrophic lateral sclerosis. PLoS One 2013; 8: e80748. 10.1371/journal.pone.0080748 24278317 PMC3835750 · DOI
- [114]Omer T Finegan E Hutchinson S. Neuroimaging patterns along the ALS-FTD spectrum: a multiparametric imaging study. Amyotroph Lateral Scler Frontotemporal Degener 2017; 18: 611- 23. 10.1080/21678421.2017.1332077 28562080 · DOI
- [115]Cardenas-Blanco A Machts J Acosta-Cabronero J. Structural and diffusion imaging versus clinical assessment to monitor amyotrophic lateral sclerosis. Neuroimage Clin 2016; 11: 408- 14. 10.1016/j.nicl.2016.03.011 27104135 PMC4827722 · DOI
- [116]Verstraete E Veldink JH van den Berg LH van den Heuvel MP. Structural brain network imaging shows expanding disconnection of the motor system in amyotrophic lateral sclerosis. Hum Brain Mapp 2014; 35: 1351- 61. 10.1002/hbm.22258 23450820 PMC6869230 · DOI
- [117]Kassubek J Müller HP Del Tredici K. Diffusion tensor imaging analysis of sequential spreading of disease in amyotrophic lateral sclerosis confirms patterns of TDP-43 pathology. Brain 2014; 137: 1733- 40. 10.1093/brain/awu090 24736303 · DOI
- [118]Rosenbohm A Müller HP Hübers A Ludolph AC Kassubek J. Corticoefferent pathways in pure lower motor neuron disease: a diffusion tensor imaging study. J Neurol 2016; 263: 2430- 7. 10.1007/s00415-016-8281-2 27624123 · DOI
- [119]Brettschneider J Del Tredici K Toledo JB. Stages of pTDP-43 pathology in amyotrophic lateral sclerosis. Ann Neurol 2013; 74: 20- 38. 10.1002/ana.23937 23686809 PMC3785076 · DOI · Paper page
- [120]Bowen BC Pattany PM Bradley WG. MR imaging and localized proton spectroscopy of the precentral gyrus in amyotrophic lateral sclerosis. AJNR Am J Neuroradiol 2000; 21: 647- 58. 10782773 PMC7976640
- [121]Rule RR Suhy J Schuff N Gelinas DF Miller RG Weiner MW. Reduced NAA in motor and non-motor brain regions in amyotrophic lateral sclerosis: a cross-sectional and longitudinal study. Amyotroph Lateral Scler Other Motor Neuron Disord 2004; 5: 141- 9. 10.1080/14660820410017109 15512902 PMC2744639 · DOI
- [122]Atassi N Xu M Triantafyllou C. Ultra high-field (7tesla) magnetic resonance spectroscopy in Amyotrophic Lateral Sclerosis. PLoS One 2017; 12: e0177680. 10.1371/journal.pone.0177680 28498852 PMC5428977 · DOI
- [123]Cheong I Marjańska M Deelchand DK Eberly LE Walk D Öz G. Ultra-High Field Proton MR Spectroscopy in Early-Stage Amyotrophic Lateral Sclerosis. Neurochem Res 2017; 42: 1833- 44. 10.1007/s11064-017-2248-2 28367604 PMC5488866 · DOI
- [124]Usman U Choi C Camicioli R. Mesial prefrontal cortex degeneration in amyotrophic lateral sclerosis: a high-field proton MR spectroscopy study. AJNR Am J Neuroradiol 2011; 32: 1677- 80. 10.3174/ajnr.A2590 21778247 PMC7965387 · DOI
- [125]Suhy J Miller RG Rule R. Early detection and longitudinal changes in amyotrophic lateral sclerosis by (1)H MRSI. Neurology 2002; 58: 773- 9. 10.1212/WNL.58.5.773 11889242 PMC2733360 · DOI
- [126]Mitsumoto H Ulug AM Pullman SL. Quantitative objective markers for upper and lower motor neuron dysfunction in ALS. Neurology 2007; 68: 1402- 10.. 10.1212/01.wnl.0000260065.57832.87 17452585 · DOI
- [127]Foerster BR Carlos RC Dwamena BA. Multimodal MRI as a diagnostic biomarker for amyotrophic lateral sclerosis. Ann Clin Transl Neurol 2014; 1: 107- 14. 10.1002/acn3.30 25356389 PMC4212480 · DOI
- [128]Häkkinen S Chu SA Lee SE. Neuroimaging in genetic frontotemporal dementia and amyotrophic lateral sclerosis. Neurobiol Dis 2020; 145: 105063. 10.1016/j.nbd.2020.105063 32890771 PMC7572920 · DOI
- [129]Van Laere K Vanhee A Verschueren J. Value of 18fluorodeoxyglucose-positron-emission tomography in amyotrophic lateral sclerosis: a prospective study. JAMA Neurol 2014; 71: 553- 61. 10.1001/jamaneurol.2014.62 24615479 · DOI
- [130]Pagani M Chiò A Valentini MC. Functional pattern of brain FDG-PET in amyotrophic lateral sclerosis. Neurology 2014; 83: 1067- 74. 10.1212/WNL.0000000000000792 25122207 · DOI
- [131]Pagani M Öberg J De Carli F. Metabolic spatial connectivity in amyotrophic lateral sclerosis as revealed by independent component analysis. Hum Brain Mapp 2016; 37: 942- 53. 10.1002/hbm.23078 26703938 PMC6867238 · DOI
- [132]Lloyd CM Richardson MP Brooks DJ Al-Chalabi A Leigh PN. Extramotor involvement in ALS: PET studies with the GABA(A) ligand [(11)C]flumazenil. Brain 2000; 123: 2289- 96. 10.1093/brain/123.11.2289 11050028 · DOI
- [133]Fu X Zhu W Guo Z. 18F-fallypride PET-CT of dopamine D2/D3 receptors in patients with sporadic amyotrophic lateral sclerosis. J Neurol Sci 2017; 377: 79- 84. 10.1016/j.jns.2017.03.013 28477714 · DOI
- [134]Turner MR Rabiner EA Hammers A. [11C]-WAY100635 PET demonstrates marked 5-HT1A receptor changes in sporadic ALS. Brain 2005; 128: 896- 905. 10.1093/brain/awh428 15689356 · DOI
- [136]Alshikho MJ Zürcher NR Loggia ML. Integrated magnetic resonance imaging and [11 C]-PBR28 positron emission tomographic imaging in amyotrophic lateral sclerosis. Ann Neurol 2018; 83: 1186- 97. 10.1002/ana.25251 29740862 PMC6105567 · DOI
- [137]Ratai EM Alshikho MJ Zürcher NR. Integrated imaging of [11C]-PBR28 PET, MR diffusion and magnetic resonance spectroscopy 1H-MRS in amyotrophic lateral sclerosis. Neuroimage Clin 2018; 20: 357- 64. 10.1016/j.nicl.2018.08.007 30112276 PMC6092554 · DOI
- [138]Schoenfeld MA Tempelmann C Gaul C. Functional motor compensation in amyotrophic lateral sclerosis. J Neurol 2005; 252: 944- 52. 10.1007/s00415-005-0787-y 15750701 · DOI
- [139]Konrad C Jansen A Henningsen H. Subcortical reorganization in amyotrophic lateral sclerosis. Exp Brain Res 2006; 172: 361- 9. 10.1007/s00221-006-0352-7 16463149 · DOI
- [140]Stanton BR Williams VC Leigh PN. Altered cortical activation during a motor task in ALS. Evidence for involvement of central pathways. J Neurol 2007; 254: 1260- 7. 10.1007/s00415-006-0513-4 17385077 · DOI
- [141]Abidi M de Marco G Couillandre A. Adaptive functional reorganization in amyotrophic lateral sclerosis: coexisting degenerative and compensatory changes. Eur J Neurol 2020; 27: 121- 8. 10.1111/ene.14042 31310452 · DOI
- [142]Douaud G Filippini N Knight S Talbot K Turner MR. Integration of structural and functional magnetic resonance imaging in amyotrophic lateral sclerosis. Brain 2011; 134: 3470- 9. 10.1093/brain/awr279 22075069 · DOI
- [143]Menke RAL Proudfoot M Talbot K Turner MR. The two-year progression of structural and functional cerebral MRI in amyotrophic lateral sclerosis. Neuroimage Clin 2017; 17: 953- 61. 10.1016/j.nicl.2017.12.025 29321969 PMC5752097 · DOI
- [144]Agosta F Valsasina P Absinta M. Sensorimotor functional connectivity changes in amyotrophic lateral sclerosis. Cereb Cortex 2011; 21: 2291- 8. 10.1093/cercor/bhr002 21368084 · DOI
- [145]Gooch CL Doherty TJ Chan KM. Motor unit number estimation: a technology and literature review. Muscle Nerve 2014; 50: 884- 93. 10.1002/mus.24442 25186553 · DOI
- [146]Verber NS Shepheard SR Sassani M. Biomarkers in Motor Neuron Disease: A State of the Art Review. Front Neurol 2019; 10: 291. 10.3389/fneur.2019.00291 31001186 PMC6456669 · DOI
- [147]Shefner JM Cudkowicz ME Zhang H Schoenfeld D Jillapalli D Northeast ALS Consortium. The use of statistical MUNE in a multicenter clinical trial. Muscle Nerve 2004; 30: 463- 9. 10.1002/mus.20120 15316983 · DOI
- [148]de Carvalho M Swash M. Sensitivity of electrophysiological tests for upper and lower motor neuron dysfunction in ALS: a six-month longitudinal study. Muscle Nerve 2010; 41: 208- 11. 19697379
- [149]Shefner JM Watson ML Simionescu L. Multipoint incremental motor unit number estimation as an outcome measure in ALS. Neurology 2011; 77: 235- 41. 10.1212/WNL.0b013e318225aabf 21676915 PMC3136054 · DOI
- [150]Bostock H. Estimating motor unit numbers from a CMAP scan. Muscle Nerve 2016; 53: 889- 96. 10.1002/mus.24945 26479267 · DOI
- [151]Jacobsen AB Bostock H Fuglsang-Frederiksen A. Reproducibility, and sensitivity to motor unit loss in amyotrophic lateral sclerosis, of a novel MUNE method: MScanFit MUNE. Clin Neurophysiol 2017; 128: 1380- 8. 10.1016/j.clinph.2017.03.045 28461135 · DOI
- [152]Nandedkar SD Barkhaus PE Stålberg EV. Motor unit number index (MUNIX): principle, method, and findings in healthy subjects and in patients with motor neuron disease. Muscle Nerve 2010; 42: 798- 807. 10.1002/mus.21824 20976783 · DOI
- [153]Neuwirth C Barkhaus PE Burkhardt C. Tracking motor neuron loss in a set of six muscles in amyotrophic lateral sclerosis using the Motor Unit Number Index (MUNIX): a 15-month longitudinal multicentre trial. J Neurol Neurosurg Psychiatry 2015; 86: 1172- 9. 10.1136/jnnp-2015-310509 25935892 · DOI
- [154]Neuwirth C Braun N Claeys KG. Implementing Motor Unit Number Index (MUNIX) in a large clinical trial: Real world experience from 27 centres. Clin Neurophysiol 2018; 129: 1756- 62. 10.1016/j.clinph.2018.04.614 29803404 · DOI
- [155]Escorcio-Bezerra ML Abrahao A Nunes KF. Motor unit number index and neurophysiological index as candidate biomarkers of presymptomatic motor neuron loss in amyotrophic lateral sclerosis. Muscle Nerve 2018; 58: 204- 12. 10.1002/mus.26087 29381812 · DOI
- [156]Vucic S Ziemann U Eisen A Hallett M Kiernan MC. Transcranial magnetic stimulation and amyotrophic lateral sclerosis: pathophysiological insights. J Neurol Neurosurg Psychiatry 2013; 84: 1161- 70. 10.1136/jnnp-2012-304019 23264687 PMC3786661 · DOI
- [157]Vucic S Kiernan MC. Novel threshold tracking techniques suggest that cortical hyperexcitability is an early feature of motor neuron disease. Brain 2006; 129: 2436- 46. 10.1093/brain/awl172 16835248 · DOI
- [158]Zanette G Tamburin S Manganotti P Refatti N Forgione A Rizzuto N. Changes in motor cortex inhibition over time in patients with amyotrophic lateral sclerosis. J Neurol 2002; 249: 1723- 8. 10.1007/s00415-002-0926-7 12529797 · DOI
- [159]Floyd AG Yu QP Piboolnurak P. Transcranial magnetic stimulation in ALS: utility of central motor conduction tests. Neurology 2009; 72: 498- 504. 10.1212/01.wnl.0000341933.97883.a4 19204259 PMC2677511 · DOI
- [160]Nagy JA DiDonato CJ Rutkove SB Sanchez B. Permittivity of ex vivo healthy and diseased murine skeletal muscle from 10 kHz to 1 MHz. Sci Data 2019; 6: 37. 10.1038/s41597-019-0045-2 31000708 PMC6472406 · DOI
- [161]Rutkove SB Sanchez B. Electrical Impedance Methods in Neuromuscular Assessment: An Overview. Cold Spring Harb Perspect Med 2019; 9: a034405. 10.1101/cshperspect.a034405 30291145 PMC6771359 · DOI
- [162]Rutkove SB Narayanaswami P Berisha V. Improved ALS clinical trials through frequent at-home self-assessment: a proof of concept study. Ann Clin Transl Neurol 2020; 7: 1148- 57. 10.1002/acn3.51096 32515889 PMC7359124 · DOI
- [163]Sanchez B. Reply to “Putting the patient first: The validity and value of surface-based electrical impedance myography techniques”. Clin Neurophysiol 2021; 132: 1754- 5. 10.1016/j.clinph.2021.03.019 33941477 · DOI
- [164]Rutkove SB Narayanaswami P David Arnold W. Putting the patient first: The validity and value of surface-based electrical impedance myography techniques. Clin Neurophysiol 2021; 132: 1752- 3. 10.1016/j.clinph.2021.03.020 33896693 · DOI
- [165]Sanchez B Martinsen OG Freeborn TJ Furse CM. Electrical impedance myography: A critical review and outlook. Clin Neurophysiol 2021; 132: 338- 44. 10.1016/j.clinph.2020.11.014 33450556 PMC7880888 · DOI
- [166]Benatar M Boylan K Jeromin A. ALS biomarkers for therapy development: State of the field and future directions. Muscle Nerve 2016; 53: 169- 82. 10.1002/mus.24979 26574709 PMC4718795 · DOI
- [167]Gendron TF Daughrity LM Heckman MG C9ORF72 Neurofilament Study Group. Phosphorylated neurofilament heavy chain: A biomarker of survival for C9ORF72-associated amyotrophic lateral sclerosis. Ann Neurol 2017; 82: 139- 46. 10.1002/ana.24980 28628244 PMC5676468 · DOI
- [168]Boylan KB Glass JD Crook JE. Phosphorylated neurofilament heavy subunit (pNF-H) in peripheral blood and CSF as a potential prognostic biomarker in amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry 2013; 84: 467- 72. 10.1136/jnnp-2012-303768 23117489 · DOI
- [169]Benatar M Wuu J Andersen PM Lombardi V Malaspina A. Neurofilament light: A candidate biomarker of presymptomatic amyotrophic lateral sclerosis and phenoconversion. Ann Neurol 2018; 84: 130- 9. 10.1002/ana.25276 30014505 PMC11348288 · DOI
- [170]Rissin DM Kan CW Campbell TG. Single-molecule enzyme-linked immunosorbent assay detects serum proteins at subfemtomolar concentrations. Nat Biotechnol 2010; 28: 595- 9. 10.1038/nbt.1641 20495550 PMC2919230 · DOI · Paper page
- [171]Poesen K De Schaepdryver M Stubendorff B. Neurofilament markers for ALS correlate with extent of upper and lower motor neuron disease. Neurology 2017; 88: 2302- 9. 10.1212/WNL.0000000000004029 28500227 · DOI
- [172]Magen I Yacovzada NS Yanowski E. Circulating miR-181 is a prognostic biomarker for amyotrophic lateral sclerosis. Nat Neurosci 2021; 24: 1534- 41. 10.1038/s41593-021-00936-z 34711961 · DOI
- [173]Shepheard SR Chataway T Schultz DW Rush RA Rogers ML. The extracellular domain of neurotrophin receptor p75 as a candidate biomarker for amyotrophic lateral sclerosis. PLoS One 2014; 9: e87398. 10.1371/journal.pone.0087398 24475283 PMC3903651 · DOI
- [174]Vu L An J Kovalik T Gendron T Petrucelli L Bowser R. Cross-sectional and longitudinal measures of chitinase proteins in amyotrophic lateral sclerosis and expression of CHI3L1 in activated astrocytes. J Neurol Neurosurg Psychiatry 2020; 91: 350- 8. 10.1136/jnnp-2019-321916 31937582 PMC7147184 · DOI
- [175]Gray E Thompson AG Wuu J. CSF chitinases before and after symptom onset in amyotrophic lateral sclerosis. Ann Clin Transl Neurol 2020; 7: 1296- 306. 10.1002/acn3.51114 32666680 PMC7448184 · DOI
- [176]Boot RG Renkema GH Verhoek M. The human chitotriosidase gene. Nature of inherited enzyme deficiency. J Biol Chem 1998; 273: 25680- 5. 10.1074/jbc.273.40.25680 9748235 · DOI · Paper page
- [177]Miller RG Jackson CE Kasarskis EJ Quality Standards Subcommittee of the American Academy of Neurology. 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; 73: 1227- 33. 10.1212/WNL.0b013e3181bc01a4 19822873 PMC2764728 · DOI
- [178]Andersen PM Abrahams S Borasio GD EFNS Task Force on Diagnosis and Management of Amyotrophic Lateral Sclerosis. EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force. Eur J Neurol 2012; 19: 360- 75. 10.1111/j.1468-1331.2011.03501.x 21914052 · DOI · Paper page
- [179]Chiò A Mazzini L Mora G. Disease-modifying therapies in amyotrophic lateral sclerosis. Neuropharmacology 2020; 167: 107986. 10.1016/j.neuropharm.2020.107986 32062193 · DOI
- [180]Bensimon G Lacomblez L Meininger V ALS/Riluzole Study Group. A controlled trial of riluzole in amyotrophic lateral sclerosis. N Engl J Med 1994; 330: 585- 91. 10.1056/NEJM199403033300901 8302340 · DOI
- [181]Lacomblez L Bensimon G Leigh PN Guillet P Meininger V Amyotrophic Lateral Sclerosis/Riluzole Study Group II. Dose-ranging study of riluzole in amyotrophic lateral sclerosis. Lancet 1996; 347: 1425- 31. 10.1016/S0140-6736(96)91680-3 8676624 · DOI
- [182]Writing Group Edaravone (MCI-186) ALS 19 Study Group. Safety and efficacy of edaravone in well defined patients with amyotrophic lateral sclerosis: a randomised, double-blind, placebo-controlled trial. Lancet Neurol 2017; 16: 505- 12. 10.1016/S1474-4422(17)30115-1 28522181 · DOI
- [183]Brooks BR Heiman-Patterson T Wiedau-Pazos M Liu S Zhang J Apple S. Edaravone efficacy in amyotrophic lateral sclerosis with reduced forced vital capacity: Post-hoc analysis of Study 19 (MCI186-19) [clinical trial NCT01492686] [clinical trial NCT01492686]. PLoS One 2022; 17: e0258614. 10.1371/journal.pone.0258614 35700157 PMC9197041 · DOI
- [184]Paganoni S Macklin EA Hendrix S. Trial of Sodium Phenylbutyrate-Taurursodiol for Amyotrophic Lateral Sclerosis. N Engl J Med 2020; 383: 919- 30. 10.1056/NEJMoa1916945 32877582 PMC9134321 · DOI · Paper page
- [185]Miller TM Cudkowicz ME Genge A VALOR and OLE Working Group. Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS. N Engl J Med 2022; 387: 1099- 110. 10.1056/NEJMoa2204705 36129998 · DOI · Paper page
- [186]Takahashi F Takei K Tsuda K Palumbo J. Post-hoc analysis of MCI186-17, the extension study to MCI186-16, the confirmatory double-blind, parallel-group, placebo-controlled study of edaravone in amyotrophic lateral sclerosis. Amyotroph Lateral Scler Frontotemporal Degener 2017; 18(sup1): 32- 9. 10.1080/21678421.2017.1361442 28872914 · DOI
- [187]Al-Chalabi A Andersen PM Chandran S. July 2017 ENCALS statement on edaravone. Amyotroph Lateral Scler Frontotemporal Degener 2017; 18: 471- 4. 10.1080/21678421.2017.1369125 28975816 · DOI
- [188]Glass JD Fournier CN. Unintended Consequences of Approving Unproven Treatments-Hope, Hype, or Harm? JAMA Neurol 2022; 79: 117- 8. 10.1001/jamaneurol.2021.4193 35006259 · DOI
- [189]Miller RG Jackson CE Kasarskis EJ Quality Standards Subcommittee of the American Academy of Neurology. 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; 73: 1218- 26. 10.1212/WNL.0b013e3181bc0141 19822872 PMC2764727 · DOI
- [190]Lechtzin N Cudkowicz ME de Carvalho M. Respiratory measures in amyotrophic lateral sclerosis. Amyotroph Lateral Scler Frontotemporal Degener 2018; 19: 321- 30. 10.1080/21678421.2018.1452945 29566571 · DOI
- [191]Bourke SC Tomlinson M Williams TL Bullock RE Shaw PJ Gibson GJ. Effects of non-invasive ventilation on survival and quality of life in patients with amyotrophic lateral sclerosis: a randomised controlled trial. Lancet Neurol 2006; 5: 140- 7. 10.1016/S1474-4422(05)70326-4 16426990 · DOI
- [192]Plowman EK Watts SA Tabor L. Impact of expiratory strength training in amyotrophic lateral sclerosis. Muscle Nerve 2016; 54: 48- 53. 10.1002/mus.24990 26599236 PMC4879103 · DOI
- [193]Lee I Kazamel M McPherson T. Fat mass loss correlates with faster disease progression in amyotrophic lateral sclerosis patients: Exploring the utility of dual-energy x-ray absorptiometry in a prospective study. PLoS One 2021; 16: e0251087. 10.1371/journal.pone.0251087 33956876 PMC8101939 · DOI
- [194]Dupuis L Pradat PF Ludolph AC Loeffler JP. Energy metabolism in amyotrophic lateral sclerosis. Lancet Neurol 2011; 10: 75- 82. 10.1016/S1474-4422(10)70224-6 21035400 · DOI
- [195]Paganoni S Deng J Jaffa M Cudkowicz ME Wills AM. Body mass index, not dyslipidemia, is an independent predictor of survival in amyotrophic lateral sclerosis. Muscle Nerve 2011; 44: 20- 4. 10.1002/mus.22114 21607987 PMC4441750 · DOI
- [196]Nieves JW Gennings C Factor-Litvak P Amyotrophic Lateral Sclerosis Multicenter Cohort Study of Oxidative Stress (ALS COSMOS) Study Group. Association Between Dietary Intake and Function in Amyotrophic Lateral Sclerosis. JAMA Neurol 2016; 73: 1425- 32. 10.1001/jamaneurol.2016.3401 27775751 PMC5370581 · DOI
- [197]Prell T Grosskreutz J Pooled Resource Open-Access ALS Clinical Trials Consortium. Use of vitamins by participants in amyotrophic lateral sclerosis clinical trials. PLoS One 2020; 15: e0237175. 10.1371/journal.pone.0237175 32790757 PMC7425848 · DOI
- [198]Kaufmann P Thompson JL Levy G QALS Study Group. Phase II trial of CoQ10 for ALS finds insufficient evidence to justify phase III. Ann Neurol 2009; 66: 235- 44. 10.1002/ana.21743 19743457 PMC2854625 · DOI
- [199]Oki R Izumi Y Fujita K Japan Early-Stage Trial of Ultrahigh-Dose Methylcobalamin for ALS (JETALS) Collaborators. Efficacy and Safety of Ultrahigh-Dose Methylcobalamin in Early-Stage Amyotrophic Lateral Sclerosis: A Randomized Clinical Trial. JAMA Neurol 2022; 79: 575- 83. 10.1001/jamaneurol.2022.0901 35532908 PMC9086935 · DOI
- [200]Wang H O’Reilly EJ Weisskopf MG. Vitamin E intake and risk of amyotrophic lateral sclerosis: a pooled analysis of data from 5 prospective cohort studies. Am J Epidemiol 2011; 173: 595- 602. 10.1093/aje/kwq416 21335424 PMC3105261 · DOI
- [201]Paganoni S Berry JD Quintana M Healey ALS Platform Trial Study Group. Adaptive Platform Trials to Transform Amyotrophic Lateral Sclerosis Therapy Development. Ann Neurol 2022; 91: 165- 75. 10.1002/ana.26285 34935174 · DOI
- [202]Johnson SA Fang T De Marchi F. Pharmacotherapy for Amyotrophic Lateral Sclerosis: A Review of Approved and Upcoming Agents. Drugs 2022; 82: 1367- 88. 10.1007/s40265-022-01769-1 36121612 · DOI
- [203]Tam OH Rozhkov NV Shaw R NYGC ALS Consortium. Postmortem Cortex Samples Identify Distinct Molecular Subtypes of ALS: Retrotransposon Activation, Oxidative Stress, and Activated Glia. Cell Rep 2019; 29: 1164- 1177.e5. 10.1016/j.celrep.2019.09.066 31665631 PMC6866666 · DOI · Paper page
- Authors
- Ilieva, H., Vullaganti, M., & Kwan, J.
- Affiliations
- Thomas Jefferson University (US)
- Tufts University (US)
- National Institutes of Health (US)
- Corresponding author
- Kwan, Justin
- Venue
- BMJ
- Publisher
- BMJ
- Published
- 2023-10-27
- Volume
- 383
- Pages
- e075037
- ISSN
- 1756-1833 (ISSN-L)
- PMC
- PMC10603569
- OpenAlex
- W4387996572
- Cited by
- 111
- References
- 206
- Citations by year
- 2026: 39 · 2025: 41 · 2024: 28 · 2023: 3
- FWCI
- 4.52
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- BMJ (publishedVersion, cc-by-nc)
- PubMed Central (publishedVersion, cc-by-nc)
- PubMed (publishedVersion)
- The Medicine Forum (submittedVersion, cc-by-nc)
- HighWire Press Open Archive (submittedVersion)
- Funders
- National Institutes of Health
- Topics
- Health Sciences › Medicine › Neurology › Amyotrophic Lateral Sclerosis Research
- Health Sciences › Medicine › Genetics › Neurogenetic and Muscular Disorders Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Keywords
- amyotrophic lateral sclerosis, molecular pathology, disease diagnosis, neuroimaging, biomarkers, ALS treatment, disease progression, disease heterogeneity, individualized care
- MeSH terms
- Amyotrophic Lateral Sclerosis, Humans, Disease Progression, Pathology, Molecular
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review