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The value of testing for ATXN2 intermediate repeat expansions in routine clinical practice for amyotrophic lateral sclerosis.在肌萎缩侧索硬化症的常规临床实践中检测ATXN2中间重复序列扩增的价值。
Eur J Hum Genet. 2022 Nov;30(11):1205-1207. doi: 10.1038/s41431-022-01146-2. Epub 2022 Jul 21.
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C9orf72 hexanucleotide repeat expansions and Ataxin 2 intermediate length repeat expansions in Indian patients with amyotrophic lateral sclerosis.印度肌萎缩侧索硬化症患者中C9orf72六核苷酸重复序列扩增和共济失调蛋白2中间长度重复序列扩增
Neurobiol Aging. 2017 Aug;56:211.e9-211.e14. doi: 10.1016/j.neurobiolaging.2017.04.011. Epub 2017 Apr 26.
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C9orf72 and ATXN2 repeat expansions coexist in a family with ataxia, dementia, and parkinsonism.C9orf72和ATXN2重复序列扩增在一个患有共济失调、痴呆和帕金森症的家族中共存。
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Motor neurone disease/amyotrophic lateral sclerosis associated with intermediate-length CAG repeat expansions in Ataxin-2 does not have 1C2-positive polyglutamine inclusions.与共济失调蛋白2中长度中等的CAG重复序列扩增相关的运动神经元病/肌萎缩侧索硬化症不存在1C2阳性的聚谷氨酰胺包涵体。
Neuropathol Appl Neurobiol. 2016 Jun;42(4):377-89. doi: 10.1111/nan.12254. Epub 2015 Jul 7.
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ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion.在携带C9ORF72基因GGGGCC重复扩增的意大利肌萎缩侧索硬化症患者中，ATNX2不是一个调控基因。
Neurobiol Aging. 2016 Mar;39:218.e5-8. doi: 10.1016/j.neurobiolaging.2015.11.027. Epub 2015 Dec 8.
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TDP-43 levels in the brain tissue of ALS cases with and without or gene expansions.TDP-43 在伴有和不伴有 或 基因扩增的 ALS 病例脑组织中的水平。
Neurology. 2019 Nov 5;93(19):e1748-e1755. doi: 10.1212/WNL.0000000000008439. Epub 2019 Oct 16.
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Intermediate-length CAG repeat in ATXN2 is associated with increased risk for amyotrophic lateral sclerosis in Brazilian patients.ATXN2 中的中等长度 CAG 重复与巴西患者肌萎缩侧索硬化症的风险增加相关。
Neurobiol Aging. 2018 Sep;69:292.e15-292.e18. doi: 10.1016/j.neurobiolaging.2018.04.020. Epub 2018 May 8.
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Analysis of ATXN2 trinucleotide repeats in Korean patients with amyotrophic lateral sclerosis.分析韩国肌萎缩侧索硬化症患者 ATXN2 三核苷酸重复序列。
Neurobiol Aging. 2018 Jul;67:201.e5-201.e8. doi: 10.1016/j.neurobiolaging.2018.03.019. Epub 2018 Mar 23.
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Cerebellar neuronal loss in amyotrophic lateral sclerosis cases with ATXN2 intermediate repeat expansions.肌萎缩侧索硬化症伴 ATXN2 中间重复扩展病例的小脑神经元丢失。
Ann Neurol. 2016 Feb;79(2):295-305. doi: 10.1002/ana.24565. Epub 2016 Jan 14.
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ATXN2 trinucleotide repeat length correlates with risk of ALS.共济失调蛋白2三核苷酸重复长度与肌萎缩侧索硬化症风险相关。
Neurobiol Aging. 2017 Mar;51:178.e1-178.e9. doi: 10.1016/j.neurobiolaging.2016.11.010. Epub 2016 Nov 24.

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An observational study of pleiotropy and penetrance of amyotrophic lateral sclerosis associated with CAG-repeat expansion of ATXN2.一项关于与ATXN2基因CAG重复序列扩增相关的肌萎缩侧索硬化症的多效性和外显率的观察性研究。
Eur J Hum Genet. 2025 Feb 16. doi: 10.1038/s41431-025-01811-2.
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Localization of Potential Energy in Hydrogen Bonds of the Gene.基因中氢键的势能定位
Int J Mol Sci. 2025 Jan 23;26(3):933. doi: 10.3390/ijms26030933.
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ATXN2 polyglutamine intermediate repeats length expansions in Malaysian patients with amyotrophic lateral sclerosis (ALS).马来西亚肌萎缩侧索硬化症（ALS）患者中ATXN2多聚谷氨酰胺中间重复序列长度的扩增
Neurogenetics. 2025 Jan 13;26(1):19. doi: 10.1007/s10048-024-00798-0.
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A report of resources used by clinicians in the UK to support motor neuron disease genomic testing.英国临床医生用于支持运动神经元病基因组检测的资源报告。
Amyotroph Lateral Scler Frontotemporal Degener. 2024 May;25(3-4):410-412. doi: 10.1080/21678421.2023.2299204. Epub 2024 Jan 2.
6
Synucleinopathy in Amyotrophic Lateral Sclerosis: A Potential Avenue for Antisense Therapeutics?肌萎缩侧索硬化症中的突触核蛋白病：反义治疗的潜在途径？
Int J Mol Sci. 2022 Aug 19;23(16):9364. doi: 10.3390/ijms23169364.

本文引用的文献

1
ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions.ExpansionHunter：一种基于序列图的工具，用于分析短串联重复区域的变异。
Bioinformatics. 2019 Nov 1;35(22):4754-4756. doi: 10.1093/bioinformatics/btz431.
2
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.共济失调蛋白2（ATXN2）基因中CAG重复序列的中等长度扩展是肌萎缩侧索硬化症（ALS）的一个独特遗传风险因素——一项观察性研究的系统评价和荟萃分析
PLoS One. 2014 Aug 22;9(8):e105534. doi: 10.1371/journal.pone.0105534. eCollection 2014.
3
Association of long ATXN2 CAG repeat sizes with increased risk of amyotrophic lateral sclerosis.长ATXN2 CAG重复序列长度与肌萎缩侧索硬化症风险增加的关联。
Arch Neurol. 2011 Jun;68(6):739-42. doi: 10.1001/archneurol.2011.111.
4
Model organisms reveal insight into human neurodegenerative disease: ataxin-2 intermediate-length polyglutamine expansions are a risk factor for ALS.模式生物揭示了人类神经退行性疾病的机制：ataxin-2 中间长度多聚谷氨酰胺扩展是 ALS 的一个风险因素。
J Mol Neurosci. 2011 Nov;45(3):676-83. doi: 10.1007/s12031-011-9548-9. Epub 2011 Jun 10.
5
Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS.动态突变的 ATXN2 中间长度多聚谷氨酰胺扩展与 ALS 的风险增加有关。
Nature. 2010 Aug 26;466(7310):1069-75. doi: 10.1038/nature09320.

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

作者信息

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

机构信息

Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.

Montreal Neurological Institute and Hospital, McGill University, Montreal, QC, Canada.

出版信息

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

DOI:10.1038/s41431-022-01146-2
PMID:35864146
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9626461/
Abstract
摘要