• 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

病例报告：一种与快速进展性肌萎缩侧索硬化相关的基因变体。

Case report: A variant of the gene with rapidly progressive amyotrophic lateral sclerosis.

作者信息

Yilihamu Mubalake, Liu Xiaolu, Liu Xiaoxuan, Chen Yong, Fan Dongsheng

机构信息

Department of Neurology, Peking University Third Hospital, Beijing, China.

Beijing Municipal Key Laboratory of Biomarker and Translational Research in Neurodegenerative Diseases, Beijing, China.

出版信息

Front Neurol. 2022 Aug 24;13:984866. doi: 10.3389/fneur.2022.984866. eCollection 2022.

DOI:10.3389/fneur.2022.984866
PMID:36090855
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9448896/
Abstract

Heterozygous autosomal-dominant mutations are associated with amyotrophic lateral sclerosis (ALS). Here, we describe a variant of the gene (c.350dupC, p.Asp118GlyfsTer9) in a patient with rapidly progressive ALS that has not previously been reported in ALS or primary lateral sclerosis (PLS) patients before. Our study provides further information on the genotypes and phenotypes of patients with mutations.

摘要

杂合常染色体显性突变与肌萎缩侧索硬化症（ALS）相关。在此，我们描述了一名快速进展性ALS患者中该基因的一个变异体（c.350dupC，p.Asp118GlyfsTer9），此前在ALS或原发性侧索硬化症（PLS）患者中尚未有过报道。我们的研究为携带该突变的患者的基因型和表型提供了更多信息。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/435d/9448896/655cffd37dcc/fneur-13-984866-g0003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/435d/9448896/864bbf84894a/fneur-13-984866-g0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/435d/9448896/8df3f1b752df/fneur-13-984866-g0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/435d/9448896/655cffd37dcc/fneur-13-984866-g0003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/435d/9448896/864bbf84894a/fneur-13-984866-g0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/435d/9448896/8df3f1b752df/fneur-13-984866-g0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/435d/9448896/655cffd37dcc/fneur-13-984866-g0003.jpg

相似文献

1
Case report: A variant of the gene with rapidly progressive amyotrophic lateral sclerosis.病例报告：一种与快速进展性肌萎缩侧索硬化相关的基因变体。
Front Neurol. 2022 Aug 24;13:984866. doi: 10.3389/fneur.2022.984866. eCollection 2022.
2
Novel Variants in the Gene Associated With Chinese Sporadic Amyotrophic Lateral Sclerosis With Slow Progression.与中国散发性缓慢进展型肌萎缩侧索硬化症相关基因的新型变异体
J Clin Neurol. 2022 Jan;18(1):41-47. doi: 10.3988/jcn.2022.18.1.41.
3
Case Report: Association of a Variant of Unknown Significance in the Gene With Frontotemporal Dementia and Slowly Progressing Motoneuron Disease: A Case Report Depicting Common Challenges in Clinical and Genetic Diagnostics of Rare Neuropsychiatric and Neurologic Disorders.病例报告：与额颞叶痴呆和缓慢进展性运动神经元病相关的基因中意义未明变异：一份描述罕见神经精神和神经系统疾病临床及基因诊断常见挑战的病例报告
Front Neurosci. 2020 Dec 22;14:559670. doi: 10.3389/fnins.2020.559670. eCollection 2020.
4
FIG4 variants in central European patients with amyotrophic lateral sclerosis: a whole-exome and targeted sequencing study.中欧肌萎缩侧索硬化症患者中的FIG4变异：一项全外显子组和靶向测序研究。
Eur J Hum Genet. 2017 Feb;25(3):324-331. doi: 10.1038/ejhg.2016.186. Epub 2017 Jan 4.
5
Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.肌萎缩侧索硬化症患者中磷酸肌醇磷酸酶FIG4的有害变体。
Am J Hum Genet. 2009 Jan;84(1):85-8. doi: 10.1016/j.ajhg.2008.12.010.
6
Novel FIG4 mutations in Yunis-Varon syndrome.Yunis-Varon 综合征中的新型 FIG4 突变。
J Hum Genet. 2013 Dec;58(12):822-4. doi: 10.1038/jhg.2013.104. Epub 2013 Oct 3.
7
SQSTM1 variant in disorders of the frontotemporal dementia-amyotrophic lateral sclerosis spectrum: identification of a novel heterozygous variant and a review of the literature.SQSTM1 变异与额颞叶痴呆-肌萎缩侧索硬化综合征谱系障碍：一种新的杂合变异的鉴定及文献复习。
J Neurol. 2021 Apr;268(4):1351-1357. doi: 10.1007/s00415-020-10283-x. Epub 2020 Oct 30.
8
Case report and literature review: Novel compound heterozygous variants causing both of peripheral and central nervous system defects.病例报告与文献综述：导致外周和中枢神经系统缺陷的新型复合杂合变异体
Front Pediatr. 2022 Oct 21;10:1008251. doi: 10.3389/fped.2022.1008251. eCollection 2022.
9
Identical patterns of cortico-efferent tract involvement in primary lateral sclerosis and amyotrophic lateral sclerosis: A tract of interest-based MRI study.原发性侧索硬化症和肌萎缩侧索硬化症皮质传出束受累的相同模式：基于感兴趣区的磁共振成像研究。
Neuroimage Clin. 2018 Mar 15;18:762-769. doi: 10.1016/j.nicl.2018.03.018. eCollection 2018.
10
Familial clustering of primary lateral sclerosis and amyotrophic lateral sclerosis: Supplementary evidence for a continuum.原发性侧索硬化症和肌萎缩性侧索硬化症的家族聚集性：连续统的补充证据。
Eur J Neurol. 2021 Aug;28(8):2780-2783. doi: 10.1111/ene.14960. Epub 2021 Jun 23.

引用本文的文献

1
Amyotrophic Lateral Sclerosis: Focus on Cytoplasmic Trafficking and Proteostasis.肌萎缩侧索硬化症：聚焦于细胞质运输与蛋白质稳态
Mol Neurobiol. 2025 Apr 3. doi: 10.1007/s12035-025-04831-7.
2
PTPσ-mediated PI3P regulation modulates neurodegeneration in C9ORF72-ALS/FTD.蛋白酪氨酸磷酸酶σ（PTPσ）介导的磷脂酰肌醇-3-磷酸（PI3P）调节可调控9号染色体开放阅读框72（C9ORF72）相关的肌萎缩侧索硬化症/额颞叶痴呆（ALS/FTD）中的神经退行性变。
Neuron. 2025 Apr 16;113(8):1190-1205.e9. doi: 10.1016/j.neuron.2025.02.005. Epub 2025 Mar 11.
3
Clinical Characteristics of Charcot-Marie-Tooth Disease Type 4J.

本文引用的文献

1
Novel Variants in the Gene Associated With Chinese Sporadic Amyotrophic Lateral Sclerosis With Slow Progression.与中国散发性缓慢进展型肌萎缩侧索硬化症相关基因的新型变异体
J Clin Neurol. 2022 Jan;18(1):41-47. doi: 10.3988/jcn.2022.18.1.41.
2
Case Report: Association of a Variant of Unknown Significance in the Gene With Frontotemporal Dementia and Slowly Progressing Motoneuron Disease: A Case Report Depicting Common Challenges in Clinical and Genetic Diagnostics of Rare Neuropsychiatric and Neurologic Disorders.病例报告：与额颞叶痴呆和缓慢进展性运动神经元病相关的基因中意义未明变异：一份描述罕见神经精神和神经系统疾病临床及基因诊断常见挑战的病例报告
Front Neurosci. 2020 Dec 22;14:559670. doi: 10.3389/fnins.2020.559670. eCollection 2020.
3
4J 型腓骨肌萎缩症的临床特征。
Neurology. 2024 Sep 10;103(5):e209763. doi: 10.1212/WNL.0000000000209763. Epub 2024 Aug 12.
4
FIG4-associated disease manifesting as rapidly progressive amyotrophic lateral sclerosis.与FIG4相关的疾病，表现为快速进展性肌萎缩侧索硬化症。
Neurol Sci. 2024 Sep;45(9):4609-4610. doi: 10.1007/s10072-024-07542-4. Epub 2024 May 2.
Amyotrophic Lateral Sclerosis: An Update for 2018.肌萎缩侧索硬化症：2018 年的最新进展。
Mayo Clin Proc. 2018 Nov;93(11):1617-1628. doi: 10.1016/j.mayocp.2018.04.007. Epub 2018 Jul 4.
4
Twenty years of molecular analyses in amyotrophic lateral sclerosis: genetic landscape of Italian patients.肌萎缩侧索硬化症的 20 年分子分析：意大利患者的遗传图谱。
Neurobiol Aging. 2018 Jun;66:179.e5-179.e16. doi: 10.1016/j.neurobiolaging.2018.01.013. Epub 2018 Feb 1.
5
New FIG4 gene mutations causing aggressive ALS.导致侵袭性肌萎缩侧索硬化症的新的FIG4基因突变。
Eur J Neurol. 2018 Mar;25(3):e41-e42. doi: 10.1111/ene.13559.
6
Screening for possible oligogenic pathogenesis in Chinese sporadic ALS patients.中国散发性肌萎缩侧索硬化症患者潜在寡基因发病机制的筛查。
Amyotroph Lateral Scler Frontotemporal Degener. 2018 Aug;19(5-6):419-425. doi: 10.1080/21678421.2018.1432659. Epub 2018 Feb 7.
7
FIG4 variants in central European patients with amyotrophic lateral sclerosis: a whole-exome and targeted sequencing study.中欧肌萎缩侧索硬化症患者中的FIG4变异：一项全外显子组和靶向测序研究。
Eur J Hum Genet. 2017 Feb;25(3):324-331. doi: 10.1038/ejhg.2016.186. Epub 2017 Jan 4.
8
Decoding ALS: from genes to mechanism.解码肌萎缩侧索硬化症：从基因到机制
Nature. 2016 Nov 10;539(7628):197-206. doi: 10.1038/nature20413.
9
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways.肌萎缩侧索硬化症的外显子组测序确定风险基因和通路。
Science. 2015 Mar 27;347(6229):1436-41. doi: 10.1126/science.aaa3650. Epub 2015 Feb 19.
10
Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria.FIG4 基因在伴有巨脑回的家族性癫痫中的作用。
Neurology. 2014 Mar 25;82(12):1068-75. doi: 10.1212/WNL.0000000000000241. Epub 2014 Mar 5.