• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

Amyotrophic lateral sclerosis is over-represented in two Huntington's disease brain bank cohorts: further evidence to support genetic pleiotropy of pathogenic HTT gene expansion.

作者信息

Hickman Richard A, Dewan Ramita, Cortes Etty, Traynor Bryan J, Marder Karen, Vonsattel Jean-Paul

机构信息

Department of Pathology, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY, 10065, USA.

Department of Pathology and Cell Biology, Columbia University Irving Medical Center and New York Presbyterian Hospital, 630 W 168th Street, New York, NY, 10032, USA.

出版信息

Acta Neuropathol. 2022 Jan;143(1):105-108. doi: 10.1007/s00401-021-02385-1. Epub 2021 Nov 20.

DOI:10.1007/s00401-021-02385-1
PMID:34800149
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8918027/
Abstract
摘要

相似文献

1
Amyotrophic lateral sclerosis is over-represented in two Huntington's disease brain bank cohorts: further evidence to support genetic pleiotropy of pathogenic HTT gene expansion.肌萎缩侧索硬化症在两个亨廷顿舞蹈病脑库队列中的占比过高：支持致病性HTT基因扩增遗传多效性的进一步证据。
Acta Neuropathol. 2022 Jan;143(1):105-108. doi: 10.1007/s00401-021-02385-1. Epub 2021 Nov 20.
2
More than a co-incidence? Comment on: Amyotrophic lateral sclerosis is over-represented in two Huntington's disease brain bank cohorts: further evidence to support genetic pleiotropy of pathogenic HTT gene expansion.仅仅是巧合吗？评论：肌萎缩侧索硬化症在两个亨廷顿舞蹈症脑库队列中的比例过高：支持致病性HTT基因扩增遗传多效性的进一步证据
Acta Neuropathol. 2023 Feb;145(2):257-258. doi: 10.1007/s00401-022-02517-1. Epub 2022 Nov 6.
3
Small striatal huntingtin inclusions in patients with motor neuron disease with reduced penetrance and intermediate HTT gene expansions.运动神经元病患者携带小型纹状体亨廷顿蛋白包涵体，其外显率降低，HTT 基因扩增程度中等。
Hum Mol Genet. 2024 Nov 8;33(22):1966-1974. doi: 10.1093/hmg/ddae137.
4
Amyotrophic lateral sclerosis in Huntington disease gene carrier.亨廷顿病基因携带者中的肌萎缩侧索硬化症
Rev Neurol (Paris). 2017 Dec;173(10):670-671. doi: 10.1016/j.neurol.2017.05.005. Epub 2017 Jun 7.
5
Concurrent Amyotrophic Lateral Sclerosis and Huntington's Disease.肌萎缩侧索硬化症与亨廷顿舞蹈病并发
Intern Med. 2025 Jan 15;64(2):297-300. doi: 10.2169/internalmedicine.3232-23. Epub 2024 Jun 20.
6
Prevalence of Huntington's disease gene CAG repeat alleles in sporadic amyotrophic lateral sclerosis patients.散发性肌萎缩侧索硬化症患者中亨廷顿舞蹈症基因CAG重复等位基因的患病率
Amyotroph Lateral Scler. 2012 May;13(3):265-9. doi: 10.3109/17482968.2011.653573. Epub 2012 Mar 13.
7
A mother and her daughter carrying a pathogenic expansion of the HTT gene with a phenotype encompassing motor neuron disease and Huntington's disease.一位携带有 HTT 基因致病性扩展的母亲和她的女儿，其表型包括运动神经元病和亨廷顿病。
Clin Genet. 2024 Apr;105(4):430-433. doi: 10.1111/cge.14472. Epub 2023 Dec 13.
8
Analysis of HTT CAG repeat expansion in Italian patients with amyotrophic lateral sclerosis.分析意大利肌萎缩侧索硬化症患者的 HTT CAG 重复扩展。
Ann Clin Transl Neurol. 2022 Nov;9(11):1820-1825. doi: 10.1002/acn3.51673. Epub 2022 Oct 25.
9
Prevalence of Huntington's disease gene CAG trinucleotide repeat alleles in patients with bipolar disorder.双相情感障碍患者中亨廷顿舞蹈症基因CAG三核苷酸重复等位基因的患病率。
Bipolar Disord. 2015 Jun;17(4):403-8. doi: 10.1111/bdi.12289. Epub 2015 Feb 26.
10
Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.携带突变亨廷顿蛋白重复序列的额颞叶痴呆和肌萎缩性侧索硬化症患者。
Neuron. 2021 Feb 3;109(3):448-460.e4. doi: 10.1016/j.neuron.2020.11.005. Epub 2020 Nov 26.

引用本文的文献

1
Frequency and neuropathology of HTT repeat expansions in FTD/ALS: co-existence rather than causation.额颞叶痴呆/肌萎缩侧索硬化中亨廷顿蛋白（HTT）重复序列扩增的频率及神经病理学：共存而非因果关系。
J Neurol. 2024 Dec 12;272(1):58. doi: 10.1007/s00415-024-12822-2.
2
Genetic testing for monogenic forms of motor neuron disease/amyotrophic lateral sclerosis in unaffected family members.对未患病家庭成员进行单基因形式运动神经元病/肌萎缩侧索硬化症的基因检测。
Eur J Hum Genet. 2025 Jan;33(1):7-13. doi: 10.1038/s41431-024-01718-4. Epub 2024 Nov 5.
3
Small striatal huntingtin inclusions in patients with motor neuron disease with reduced penetrance and intermediate HTT gene expansions.

本文引用的文献

1
Developmental malformations in Huntington disease: neuropathologic evidence of focal neuronal migration defects in a subset of adult brains.亨廷顿病中的发育畸形：部分成年大脑中局灶性神经元迁移缺陷的神经病理学证据。
Acta Neuropathol. 2021 Mar;141(3):399-413. doi: 10.1007/s00401-021-02269-4. Epub 2021 Jan 30.
2
Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.携带突变亨廷顿蛋白重复序列的额颞叶痴呆和肌萎缩性侧索硬化症患者。
Neuron. 2021 Feb 3;109(3):448-460.e4. doi: 10.1016/j.neuron.2020.11.005. Epub 2020 Nov 26.
3
Huntington's disease alters human neurodevelopment.
运动神经元病患者携带小型纹状体亨廷顿蛋白包涵体，其外显率降低，HTT 基因扩增程度中等。
Hum Mol Genet. 2024 Nov 8;33(22):1966-1974. doi: 10.1093/hmg/ddae137.
4
Concurrent Amyotrophic Lateral Sclerosis and Huntington's Disease.肌萎缩侧索硬化症与亨廷顿舞蹈病并发
Intern Med. 2025 Jan 15;64(2):297-300. doi: 10.2169/internalmedicine.3232-23. Epub 2024 Jun 20.
5
Repeat expansions in , , and in Norwegian patients diagnosed with amyotrophic lateral sclerosis.在被诊断患有肌萎缩侧索硬化症的挪威患者中，[具体基因名称]、[具体基因名称]、[具体基因名称]和[具体基因名称]中的重复扩增。 （你原文中“in , , and ”这里具体基因名称缺失，我只能按格式补充翻译）
Brain Commun. 2024 Mar 14;6(2):fcae087. doi: 10.1093/braincomms/fcae087. eCollection 2024.
6
Patterns of TDP-43 Deposition in Brains with LRRK2 G2019S Mutations.LRRK2 G2019S 突变脑内 TDP-43 沉积模式。
Mov Disord. 2023 Aug;38(8):1541-1545. doi: 10.1002/mds.29449. Epub 2023 May 23.
7
Short tandem repeat expansions in sporadic amyotrophic lateral sclerosis and frontotemporal dementia.散发性肌萎缩侧索硬化症和额颞叶痴呆中的短串联重复扩展。
Sci Adv. 2023 May 5;9(18):eade2044. doi: 10.1126/sciadv.ade2044.
8
Amyotrophic lateral sclerosis: translating genetic discoveries into therapies.肌萎缩侧索硬化症：将遗传发现转化为治疗方法。
Nat Rev Genet. 2023 Sep;24(9):642-658. doi: 10.1038/s41576-023-00592-y. Epub 2023 Apr 6.
9
Huntingtin and Other Neurodegeneration-Associated Proteins in the Development of Intracellular Pathologies: Potential Target Search for Therapeutic Intervention.亨廷顿蛋白和其他神经退行性疾病相关蛋白在细胞内病理学中的作用：治疗干预的潜在靶点研究。
Int J Mol Sci. 2022 Dec 8;23(24):15533. doi: 10.3390/ijms232415533.
10
Reply: More than a co-incidence? Exploring the increased frequency of amyotrophic lateral sclerosis in Huntington disease.回复：仅仅是巧合吗？探究亨廷顿舞蹈症中肌萎缩侧索硬化症发病率增加的情况。
Acta Neuropathol. 2023 Feb;145(2):259-261. doi: 10.1007/s00401-022-02532-2. Epub 2022 Dec 21.
亨廷顿舞蹈症会改变人类神经发育。
Science. 2020 Aug 14;369(6505):787-793. doi: 10.1126/science.aax3338. Epub 2020 Jul 16.
4
Prevalence of Amyotrophic Lateral Sclerosis - United States, 2015.肌萎缩侧索硬化症的流行情况-美国，2015 年。
MMWR Morb Mortal Wkly Rep. 2018 Nov 23;67(46):1285-1289. doi: 10.15585/mmwr.mm6746a1.
5
Coexistence of Huntington's disease and amyotrophic lateral sclerosis: a clinicopathologic study.亨廷顿病与肌萎缩侧索硬化症共存：临床病理研究。
Acta Neuropathol. 2012 Nov;124(5):749-60. doi: 10.1007/s00401-012-1005-5. Epub 2012 Jun 27.
6
Association of genetically proven Huntington's disease and sporadic amyotrophic lateral sclerosis in a 72-year-old woman.一名72岁女性中基因确诊的亨廷顿舞蹈病与散发性肌萎缩侧索硬化症的关联
J Neurol. 2006 Dec;253(12):1649-50. doi: 10.1007/s00415-006-0267-z.
7
The central nervous system in motor neurone disease.运动神经元病中的中枢神经系统。
J Neurol Neurosurg Psychiatry. 1970 Jun;33(3):338-57. doi: 10.1136/jnnp.33.3.338.