The value of testing for ATXN2 intermediate repeat expansions in routine clinical practice for amyotrophic lateral sclerosis-Reference-Cited by-同舟云学术

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

Published:2022-07-21 Issue:11 Volume:30 Page:1205-1207
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Salmon Kristiana^ORCID,Ross Jay P.^ORCID,Bertone Vanessa,Gobbo Maria,Anoja Nancy,Karamchandani Jason,Dion Patrick A.,Rouleau Guy A.^ORCID,Genge Angela

Funder

Gouvernement du Canada | Instituts de Recherche en Santé du Canada | CIHR Skin Research Training Centre

Biogen provided funding for retrospective sample screening. Grant Ref # N/A

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://www.nature.com/articles/s41431-022-01146-2.pdf

Reference7 articles.

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.

2. 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.

3. 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.

4. 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.

5. 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.

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