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Review

Amyotrophic Lateral Sclerosis Overview

In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993.
[updated ].
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Review

Amyotrophic Lateral Sclerosis Overview

Nailah Siddique et al.
Free Books & Documents

Excerpt

The purpose of this overview is to increase the awareness of clinicians regarding genetic causes of amyotrophic lateral sclerosis (ALS) and related genetic counseling issues.

The following are the goals of this overview.

Goal 1: Describe the clinical characteristics of ALS.

Goal 2: Review genetic causes of ALS.

Goal 3: Provide an evaluation strategy to identify the genetic cause of ALS in a proband (when possible).

Goal 4: Provide a high-level view of management of ALS.

Goal 5: Inform genetic counseling of family members of an individual with ALS.

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References

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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

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