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 Anoja⁶, Jason Karamchandani^{3

7}, Patrick A Dion^{5

3}, Guy A Rouleau^{5

3

4}, Angela Genge^{5

3}

Affiliations

¹ Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada. Kristiana.salmon@mcgill.ca.
² Montreal Neurological Institute and Hospital, McGill University, Montreal, QC, Canada. Kristiana.salmon@mcgill.ca.
³ Montreal Neurological Institute and Hospital, McGill University, Montreal, QC, Canada.
⁴ Department of Human Genetics, McGill University, Montreal, QC, Canada.
⁵ Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.
⁶ Department of Medical Genetics, McGill University Health Centre, Montreal, QC, Canada.
⁷ Department of Pathology, McGill University, Montreal, QC, Canada.

PMID: 35864146
PMCID: PMC9626461
DOI: 10.1038/s41431-022-01146-2

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.

. 2022 Nov;30(11):1205-1207.

doi: 10.1038/s41431-022-01146-2. Epub 2022 Jul 21.

Authors

Kristiana Salmon^{1

2}, Jay P Ross^{3

4}, Vanessa Bertone^{5

3}, Maria Gobbo^{5

3}, Nancy Anoja⁶, Jason Karamchandani^{3

7}, Patrick A Dion^{5

3}, Guy A Rouleau^{5

3

4}, Angela Genge^{5

3}

Affiliations

¹ Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada. Kristiana.salmon@mcgill.ca.
² Montreal Neurological Institute and Hospital, McGill University, Montreal, QC, Canada. Kristiana.salmon@mcgill.ca.
³ Montreal Neurological Institute and Hospital, McGill University, Montreal, QC, Canada.
⁴ Department of Human Genetics, McGill University, Montreal, QC, Canada.
⁵ Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.
⁶ Department of Medical Genetics, McGill University Health Centre, Montreal, QC, Canada.
⁷ Department of Pathology, McGill University, Montreal, QC, Canada.

PMID: 35864146
PMCID: PMC9626461
DOI: 10.1038/s41431-022-01146-2

No abstract available

PubMed Disclaimer

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.

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

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

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