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Review

Amyotrophic Lateral Sclerosis Overview

Nailah Siddique  1 , Teepu Siddique  2
Margaret P Adam, Jerry Feldman, Ghayda M Mirzaa, Roberta A Pagon, Stephanie E Wallace, Anne Amemiya
, editors.
In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993.
[updated ].
Affiliations
Free Books & Documents
Review

Amyotrophic Lateral Sclerosis Overview

Nailah Siddique et al.
Free Books & Documents

Excerpt

The purpose of this overview is to:

  1. 1

    Describe the clinical characteristics of amyotrophic lateral sclerosis (ALS);

  2. 2

    Review genetic causes of ALS;

  3. 3

    Provide an evaluation strategy to identify the genetic cause of ALS in a proband (when possible);

  4. 4

    Provide a high-level view of management of ALS;

  5. 5

    Inform genetic counseling of family members of an individual with ALS.

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References

Literature Cited

    1. Abrahams S, Goldstein LH, Suckling J, Ng V, Simmons A, Chitnis X, Atkins L, Williams SC, Leigh PN. Frontotemporal white matter changes in amyotrophic lateral sclerosis. J Neurol. 2005;252:321-31. - PubMed
    1. 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. - PubMed
    1. Akiyama T, Warita H, Kato M, Nishiyama A, Izumi R, Ikeda C, Kamada M, Suzuki N, Aoki M. Genotype-phenotype relationships in familial amyotrophic lateral sclerosis with FUS/TLS mutations in Japan. Muscle Nerve. 2016;54: 398-404. - PubMed
    1. Albert SM, Murphy PL, Del Bene ML, Rowland LP.A prospective study of preferences and actual treatment choices in ALS. Neurology. 1999;53:278-83. - PubMed
    1. Al-Chalabi A, Calvo A, Chiò A, Colville S, Ellis CM, Hardiman O, Heverin M, Howard RS, Huisman MHB, Keren N, Leigh PN, Mazzini L, Mora G, Orrell RW, Rooney J, Scott KM, Scotton WJ, Seelen M, Shaw CE, Sidle KS, Swingler R, Tsuda M, Veldink JH, Visser AE, van den Berg LH, Pearce N. Analysis of amyotrophic lateral sclerosis as a multistep process: a population-based modelling study. Lancet Neurol. 2014;13:1108-13. - PMC - PubMed

Suggested Reading

    1. Abe K, Aoki M, Tsuji S, Itoyama Y, Sobue G, Togo M, Hamada C, Tanaka M, Akimoto M, Nakamura K, Takahashi F, Kondo K, Yoshino H, et al. 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. - PubMed
    1. Andersen PM. Is all ALS genetic? Neurology. 2017;89:220-1. - PubMed
    1. Ghasemi M, Brown RH Jr. Genetics of amyotrophic lateral sclerosis. Cold Spring Harb Perspect Med. 2018;8:a024125. - PMC - PubMed
    1. Ly CV, Miller TM. Emerging antisense oligonucleotide and viral therapies for amyotrophic lateral sclerosis. Curr Opin Neurol. 2018;31:648-54. - PMC - PubMed
    1. Oskarsson B, Gendron TF, Staff N. Amyotrophic lateral sclerosis: an update for 2018. Mayo Clin Proc. 2018;93:1617-28. - PubMed