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. 2022 Nov;30(11):1205-1207.
doi: 10.1038/s41431-022-01146-2. Epub 2022 Jul 21.

The value of testing for ATXN2 intermediate repeat expansions in routine clinical practice for amyotrophic lateral sclerosis

Kristiana Salmon  1   2 , Jay P Ross  3   4 , Vanessa Bertone  5   3 , Maria Gobbo  5   3 , Nancy Anoja  6 , Jason Karamchandani  3   7 , Patrick A Dion  5   3 , Guy A Rouleau  5   3   4 , Angela Genge  5   3
Affiliations

The value of testing for ATXN2 intermediate repeat expansions in routine clinical practice for amyotrophic lateral sclerosis

Kristiana Salmon et al. Eur J Hum Genet. 2022 Nov.
No abstract available

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Conflict of interest statement

KS, JPR, VB, MG, NA, JK, PAD, GAR declare no competing interests. AG reports consultancies or advisory boards for Alexion, AL-S Pharma, Amylyx, Anelixis, Anexon, Apellis, Atlantic Research Group, Biogen, Calico, Cytokinetics, Eli Lilly, Ionis, Mitsubishi Tanabe Pharma, Orion Pharma, QurAlis, Roche, Sanofi, UCB, and Wave Life Sciences.

References

    1. Goutman SA, Hardiman O, Al-Chalabi A, Chio A, Savelieff MG, Kiernan MC, et al. Emerging insights into the complex genetics and pathophysiology of amyotrophic lateral sclerosis. Lancet Neurol. 2022;21:465–79. - PMC - PubMed
    1. Salmon K, Kiernan MC, Kim SH, Andersen PM, Chio A, van den Berg LH, et al. The importance of offering early genetic testing in everyone with amyotrophic lateral sclerosis. Brain. 2022;145:1207–10. - PMC - PubMed
    1. Elden AC, Kim HJ, Hart MP, Chen-Plotkin AS, Johnson BS, Fang X, et al. Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS. Nature. 2010;466:1069–75. doi: 10.1038/nature09320. - DOI - PMC - PubMed
    1. Bonini NM, Gitler AD. Model organisms reveal insight into human neurodegenerative disease: ataxin-2 intermediate-length polyglutamine expansions are a risk factor for ALS. J Mol Neurosci. 2011;45:676–83. doi: 10.1007/s12031-011-9548-9. - DOI - PMC - PubMed
    1. Wang MD, Gomes J, Cashman NR, Little J, Krewski D. Intermediate CAG repeat expansion in the ATXN2 gene is a unique genetic risk factor for ALS-a systematic review and meta-analysis of observational studies. PLoS ONE. 2014;9:e105534. doi: 10.1371/journal.pone.0105534. - DOI - PMC - PubMed

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