Annotated Bibliography

TIME PERIOD: 1861-1880

  • 1874: Jean-Martin Charcot, the “Father of Neurology,” was the first researcher to describe ALS. He conducted studies from 1865 to 1869 and gave lectures on the disease from then on. He did not coin the term “amyotrophic lateral sclerosis” until he compiled all his works on all medical topics into Oeuvres Completes, which he published in 1874. In Oeuvres Completes, Charcot describes the anatomical changes, symptoms, forms, and treatments of ALS. This book, originally published in French, gives a detailed, though dated, description of Charcot’s work on ALS patients.
    • Reference: Kumar DR, Aslinia F, Yale SH, Mazza JJ. Jean-Martin Charcot: The Father of Neurology. Clin Med Res. 2011;9(1):46-49. doi:10.3121/cmr.2009.883

TIME PERIOD: 1881-1900

  • 1894: Charles Henry Brown presented the first known case of ALS in a child to the New York Neurological Society. The boy was fifteen years old.
    • Reference: Brown CH. Infantile Amyotrophic Lateral Sclerosis of the Family Type. The Journal of Nervous and Mental Disease. 1894;19(11):707–716.
  • 1895: Robert Mackenzie described a patient with ALS and influenzia who died eight days later, then conducted an autopsy. This early death is not surprising because the flu would compound ALS’s already fatal respiratory issues.
    • Reference: Mackenzie R. A Case of Amyotrophic Lateral Sclerosis, Complicated with Influenza. Fatal Result. Edinb Med J. 1895;41(2):129-131.

TIME PERIOD: 1901-1920

TIME PERIOD: 1921-1940

TIME PERIOD: 1941-1960

TIME PERIOD: 1961-1980

TIME PERIOD: 1981-2000

  • 1993: A GeneReviews® page about ALS1. The review gives an overview of ALS as a holistic, fatal disease.
    • Reference: Siddique N, Siddique T. Amyotrophic Lateral Sclerosis Overview. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993.
  • 1993: Rosen et al. made a FALS breakthrough by discovering the first gene/enzyme linked to ALS, Cu-Zn superoxide dismutase (SOD1).
    • Reference: Rosen DR, Siddique T, Patterson D, et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature. 1993;362(6415):59-62. doi:10.1038/362059a0
  • 1993: A follow-up study on FALS was performed, and it found that 12 mutations in SOD1 interfered with the beta-barrel fold, not the active site.
    • Reference: Deng HX, Hentati A, Tainer JA, et al. Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase. Science. 1993;261(5124):1047-1051. doi:10.1126/science.8351519
  • 1994: Canto and Gurney accelerated research in ALS by developing the first animal model of the previously only human disease, a transgenic mouse model.
    • Reference: Dal Canto MC, Gurney ME. Development of central nervous system pathology in a murine transgenic model of human amyotrophic lateral sclerosis. Am J Pathol. 1994;145(6):1271-1279.
  • 1995: Andersen et al. conducted follow-up studies on the Cu-Zn dismutase gene and its effects on ALS. They identified a specific mutation, Asp90Ala, and concluded it is a gain of function mutation.
    • Reference: Andersen PM, Nilsson P, Ala-Hurula V, et al. Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase. Nature Genetics. 1995;10(1):61-66. doi:10.1038/ng0595-61
  • 1997: Kunst et al. used the mouse model of ALS to identify two proteins likely associated with the mutant superoxide dismutase’s gain of function in SOD1 FALS. They are lysyl-tRNA synthetase and translocon-associated protein delta.
    • Reference: Kunst CB, Mezey E, Brownstein MJ, Patterson D. Mutations in SOD1 associated with amyotrophic lateral sclerosis cause novel protein interactions. Nature Genetics. 1997;15(1):91-94. doi:10.1038/ng0197-91
  • 1997: Researchers discover that the most frequent mutation in SOD1 ALS patients is A4V in exon 1.
    • Reference: Cudkowicz ME, McKenna‐Yasek D, Sapp PE, et al. Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis. Annals of Neurology. 1997;41(2):210-221. doi:10.1002/ana.410410212
  • 1997: Shifting a minor paradigm, researchers found a SOD1 FALS mutation in exon 3, the active site domain.
    • Reference: Orrell RW, Marklund SL, deBelleroche JS. Familial ALS is associated with mutations in all exons of SOD1: a novel mutation in exon 3 (Gly72Ser). Journal of the Neurological Sciences. 1997;153(1):46-49. doi:10.1016/S0022-510X(97)00181-0
  • 1998: A general page with facts about ALS, means for layperson consumption.
    • Reference: Information (US) NC for B. Amyotrophic Lateral Sclerosis. National Center for Biotechnology Information (US); 1998.
  • 1999: Trotti et al. linked SOD1 mutant FALS patients to the glial glutamate transporter.
    • Reference: Trotti D, Rolfs A, Danbolt NC, Brown RH, Hediger MA. SOD1 mutants linked to amyotrophic lateral sclerosis selectively inactivate a glial glutamate transporter. Nature Neuroscience. 1999;2(5):427-433. doi:10.1038/8091
  • 1999: Bensimon et al. discovered that riluzole, an antiglutamate agent, slows progression of ALS in some patients, and can increase survivability in patients with bulbar-onset ALS. This was the first ALS drug to be developed and implemented.
    • Reference: Bensimon G, Lacomblez L, Meininger V. A Controlled Trial of Riluzole in Amyotrophic Lateral Sclerosis. New England Journal of Medicine. 1994;330(9):585-591. doi:10.1056/NEJM199403033300901

TIME PERIOD: 2001-2010

TIME PERIOD: 2011-2020

  • 2011: Several doctors warned the research field about how heterogeneity of ALS patients in clinical trials could mask the effectiveness of some drugs. They recommend genetic tests of individuals at the start of future trials for more control.
    • Reference: Beghi E, Chiò A, Couratier P, et al. The epidemiology and treatment of ALS: Focus on the heterogeneity of the disease and critical appraisal of therapeutic trials. Amyotrophic Lateral Sclerosis. 2011;12(1):1-10. doi:10.3109/17482968.2010.502940
  • 2012: Wu et al. identifies Cys146X as a novel mutation in the SOD1 gene leading to FALS using whole-exome sequencing.
    • Reference: Wu J, Shen E, Shi D, Sun Z, Cai T. Identification of a novel Cys146X mutation of SOD1 in familial amyotrophic lateral sclerosis by whole-exome sequencing. Genetics in Medicine. 2012;14(9):823-826. doi:10.1038/gim.2012.50
  • 2012: A different Wu et al. discovered a new gene that leads to FALS in some patients, profilin 1 (PFN1).
    • Reference: Wu C-H, Fallini C, Ticozzi N, et al. Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis. Nature. 2012;488(7412):499-503. doi:10.1038/nature11280
  • 2013: Kim et al. found mutations of prion-like domains in two proteins linked to ALS. This is evidence for the soluble oligomers acting in a prion-like mechanism.
    • Reference: Kim HJ, Kim NC, Wang Y-D, et al. Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS. Nature. 2013;495(7442):467-473. doi:10.1038/nature11922
  • 2013: Possible disease mechanisms for several different genes linked to ALS1.
    • Reference: Blokhuis AM, Groen EJN, Koppers M, van den Berg LH, Pasterkamp RJ. Protein aggregation in amyotrophic lateral sclerosis. Acta Neuropathol. 2013;125(6):777-794. doi:10.1007/s00401-013-1125-6
  • 2013: A webpage about the scientific consensus on ALS, meant for laypeople and especially for patients and their families.
    • Reference: Amyotrophic Lateral Sclerosis (ALS) Fact Sheet. National Institute of Neurological Disorders and Stroke. Published June 2013.
  • 2016: Rheenen et al. used genome-wide analysis to find previously unknown risk factors for ALS among tens of thousands of patients and controls.
    • Reference: van Rheenen W, Shatunov A, Dekker AM, et al. Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis. Nature Genetics. 2016;48(9):1043-1048. doi:10.1038/ng.3622
  • 2016: Kenna et al. identified variants in the NEK1 gene as another risk factor for FALS.
    • Reference: Kenna KP, van Doormaal PTC, Dekker AM, et al. NEK1 variants confer susceptibility to amyotrophic lateral sclerosis. Nature Genetics. 2016;48(9):1037-1042. doi:10.1038/ng.3626
  • 2016: Mondola et al. presented the SOD1 enzyme as not only a dismutase, but having several diverse functions in the cell.
    • Reference: Mondola P, Damiano S, Sasso A, Santillo M. The Cu, Zn Superoxide Dismutase: Not Only a Dismutase Enzyme. Front Physiol. 2016;7. doi:10.3389/fphys.2016.00594
  • 2017: Hardiman et al. conducted a double-blind trial of a new ALS drug, edaravone. It showed a slowing of symptoms for patients with ALSFRS-R, a very specific subset of ALS patients.
    • Reference: Abe K, Aoki M, Tsuji S, et al. Safety and efficacy of edaravone in well defined patients with amyotrophic lateral sclerosis: a randomised, double-blind, placebo-controlled trial. The Lancet Neurology. 2017;16(7):505-512. doi:10.1016/S1474-4422(17)30115-1rel
  • 2018: Mutations in C9orf72 are found to be a cause of ALS1. The function of the protein product is still unknown.
    • Reference: Balendra R, Isaacs AM. C9orf72-mediated ALS and FTD: multiple pathways to disease. Nat Rev Neurol. 2018;14(9):544-558. doi:10.1038/s41582-018-0047-2
  • 2019: A possible mechanism for ALS1 caused by mutations in the FUS gene is presented, involving the paraspeckles it encodes.
    • Reference: An H, Skelt L, Notaro A, et al. ALS-linked FUS mutations confer loss and gain of function in the nucleus by promoting excessive formation of dysfunctional paraspeckles. Acta Neuropathologica Communications. 2019;7(1):7. doi:10.1186/s40478-019-0658-x


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