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Tang, P. Amyotrophic Lateral Sclerosis. Encyclopedia. Available online: https://encyclopedia.pub/entry/5932 (accessed on 21 September 2026).
Tang P. Amyotrophic Lateral Sclerosis. Encyclopedia. Available at: https://encyclopedia.pub/entry/5932. Accessed September 21, 2026.
Tang, Peter. "Amyotrophic Lateral Sclerosis" Encyclopedia, https://encyclopedia.pub/entry/5932 (accessed September 21, 2026).
Tang, P. (2020, December 31). Amyotrophic Lateral Sclerosis. In Encyclopedia. https://encyclopedia.pub/entry/5932
Tang, Peter. "Amyotrophic Lateral Sclerosis." Encyclopedia. Web. 31 December, 2020.
Amyotrophic Lateral Sclerosis
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/amyotrophic-lateral-sclerosis

Amyotrophic lateral sclerosis (ALS) is a progressive disease that affects motor neurons, which are specialized nerve cells that control muscle movement. These nerve cells are found in the spinal cord and the brain. In ALS, motor neurons die (atrophy) over time, leading to muscle weakness, a loss of muscle mass, and an inability to control movement.

genetic conditions

References

  1. Andersen PM, Al-Chalabi A. Clinical genetics of amyotrophic lateral sclerosis:what do we really know? Nat Rev Neurol. 2011 Oct 11;7(11):603-15. doi:10.1038/nrneurol.2011.150. Review. Citation on PubMed
  2. Andersen PM. Amyotrophic lateral sclerosis associated with mutations in theCuZn superoxide dismutase gene. Curr Neurol Neurosci Rep. 2006 Jan;6(1):37-46.Review. Citation on PubMed
  3. Chiò A, Borghero G, Restagno G, Mora G, Drepper C, Traynor BJ, Sendtner M,Brunetti M, Ossola I, Calvo A, Pugliatti M, Sotgiu MA, Murru MR, Marrosu MG,Marrosu F, Marinou K, Mandrioli J, Sola P, Caponnetto C, Mancardi G, Mandich P,La Bella V, Spataro R, Conte A, Monsurrò MR, Tedeschi G, Pisano F, Bartolomei I, Salvi F, Lauria Pinter G, Simone I, Logroscino G, Gambardella A, Quattrone A,Lunetta C, Volanti P, Zollino M, Penco S, Battistini S; ITALSGEN consortium,Renton AE, Majounie E, Abramzon Y, Conforti FL, Giannini F, Corbo M, Sabatelli M.Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72. Brain.2012 Mar;135(Pt 3):784-93. doi: 10.1093/brain/awr366. Citation on PubMed or Free article on PubMed Central
  4. Farg MA, Sundaramoorthy V, Sultana JM, Yang S, Atkinson RA, Levina V, HalloranMA, Gleeson PA, Blair IP, Soo KY, King AE, Atkin JD. C9ORF72, implicated inamytrophic lateral sclerosis and frontotemporal dementia, regulates endosomaltrafficking. Hum Mol Genet. 2014 Jul 1;23(13):3579-95. doi: 10.1093/hmg/ddu068.Epub 2014 Feb 18. Erratum in: Hum Mol Genet. 2017 Oct 15;26(20):4093-4094. Citation on PubMed or Free article on PubMed Central
  5. Fecto F, Siddique T. Making connections: pathology and genetics linkamyotrophic lateral sclerosis with frontotemporal lobe dementia. J Mol Neurosci. 2011 Nov;45(3):663-75. doi: 10.1007/s12031-011-9637-9. Epub 2011 Sep 7. Review. Citation on PubMed
  6. Ferraiuolo L, Kirby J, Grierson AJ, Sendtner M, Shaw PJ. Molecular pathways ofmotor neuron injury in amyotrophic lateral sclerosis. Nat Rev Neurol. 2011Nov;7(11):616-30. doi: 10.1038/nrneurol.2011.152. Review. Citation on PubMed
  7. Kiernan MC, Vucic S, Cheah BC, Turner MR, Eisen A, Hardiman O, Burrell JR,Zoing MC. Amyotrophic lateral sclerosis. Lancet. 2011 Mar 12;377(9769):942-55.doi: 10.1016/S0140-6736(10)61156-7. Epub 2011 Feb 4. Review. Citation on PubMed
  8. Lattante S, Ciura S, Rouleau GA, Kabashi E. Defining the genetic connectionlinking amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (FTD).Trends Genet. 2015 May;31(5):263-73. doi: 10.1016/j.tig.2015.03.005. Epub 2015Apr 10. Review. Citation on PubMed
  9. Ling SC, Polymenidou M, Cleveland DW. Converging mechanisms in ALS and FTD:disrupted RNA and protein homeostasis. Neuron. 2013 Aug 7;79(3):416-38. doi:10.1016/j.neuron.2013.07.033. Review. Citation on PubMed or Free article on PubMed Central
  10. Marangi G, Traynor BJ. Genetic causes of amyotrophic lateral sclerosis: newgenetic analysis methodologies entailing new opportunities and challenges. Brain Res. 2015 May 14;1607:75-93. doi: 10.1016/j.brainres.2014.10.009. Epub 2014 Oct12. Review. Citation on PubMed
  11. McGeer PL, Steele JC. The ALS/PDC syndrome of Guam: potential biomarkers foran enigmatic disorder. Prog Neurobiol. 2011 Dec;95(4):663-9. doi:10.1016/j.pneurobio.2011.04.001. Epub 2011 Apr 20. Review. Citation on PubMed
  12. National Institute of Neurological Disorders and Stroke
  13. Paganoni S, Macklin EA, Lee A, Murphy A, Chang J, Zipf A, Cudkowicz M, Atassi N. Diagnostic timelines and delays in diagnosing amyotrophic lateral sclerosis(ALS). Amyotroph Lateral Scler Frontotemporal Degener. 2014 Sep;15(5-6):453-6.doi: 10.3109/21678421.2014.903974. Epub 2014 Jul 1. Citation on PubMed or Free article on PubMed Central
  14. Renton AE, Chiò A, Traynor BJ. State of play in amyotrophic lateral sclerosis genetics. Nat Neurosci. 2014 Jan;17(1):17-23. doi: 10.1038/nn.3584. Epub 2013 Dec26. Review. Citation on PubMed or Free article on PubMed Central
  15. Siddique N, Siddique T. Amyotrophic Lateral Sclerosis Overview. 2001 Mar 23[updated 2019 Oct 3]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH,Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): Universityof Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1450/ Citation on PubMed
  16. Vance C, Rogelj B, Hortobágyi T, De Vos KJ, Nishimura AL, Sreedharan J, Hu X, Smith B, Ruddy D, Wright P, Ganesalingam J, Williams KL, Tripathi V, Al-Saraj S, Al-Chalabi A, Leigh PN, Blair IP, Nicholson G, de Belleroche J, Gallo JM, Miller CC, Shaw CE. Mutations in FUS, an RNA processing protein, cause familialamyotrophic lateral sclerosis type 6. Science. 2009 Feb 27;323(5918):1208-1211.doi: 10.1126/science.1165942. Citation on PubMed or Free article on PubMed Central
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Subjects: Genetics & Heredity
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Update Date: 31 Dec 2020
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