• 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

GBA1突变和APOE基因多态性对阿什肯纳兹犹太路易体痴呆患者生存及病情进展的影响

Effect of GBA1 Mutations and APOE Polymorphisms on Survival and Progression Among Ashkenazi Jews with Dementia with Lewy Bodies.

作者信息

Shiner Tamara, Kavé Gitit, Mirelman Anat, Regev Keren, Piura Yoav, Goldstein Orly, Gana Weisz Mali, Bar-Shira Anat, Gurevich Tanya, Orr-Urtreger Avi, Alcalay Roy N, Giladi Nir, Bregman Noa

机构信息

Cognitive Neurology Unit, Neurological Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.

Faculty of Medicine and Health Sciences, Tel Aviv University, Tel Aviv, Israel.

出版信息

Mov Disord. 2024 Dec;39(12):2280-2285. doi: 10.1002/mds.30003. Epub 2024 Aug 30.

DOI:10.1002/mds.30003
PMID:39212252
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11657010/
Abstract

BACKGROUND

Glucocerebrosidase 1 (GBA1) mutations are associated with reduced survival in Parkinson's disease but their effect on survival in dementia with Lewy bodies (DLB) is unclear.

OBJECTIVE

To assess the impact of GBA1 mutations on survival among Ashkenazi Jews with DLB, while controlling for APOE status.

METHODS

One hundred and forty participants from Tel Aviv Medical Center, Israel were genotyped for GBA1 mutations and APOE polymorphisms. Survival rates and follow-up cognitive screening scores were analyzed.

RESULTS

GBA1 mutation carriers had a two-fold increased risk of death (HR = 1.999), while APOE status did not independently affect survival. In a subset of patients with available clinical data (N = 63), carriers of the APOE ε4 allele showed faster cognitive deterioration, while GBA1 mutation carriers also declined more rapidly albeit not significantly.

CONCLUSION

Understanding the genetic effects on survival and progression is crucial for patient counseling and inclusion in clinical trials.

摘要

背景

葡糖脑苷脂酶1（GBA1）突变与帕金森病患者生存率降低有关，但其对路易体痴呆（DLB）患者生存率的影响尚不清楚。

目的

在控制载脂蛋白E（APOE）状态的同时，评估GBA1突变对阿什肯纳兹犹太裔DLB患者生存率的影响。

方法

对来自以色列特拉维夫医疗中心的140名参与者进行GBA1突变和APOE多态性基因分型。分析生存率和随访认知筛查分数。

结果

GBA1突变携带者的死亡风险增加两倍（风险比=1.999），而APOE状态并不独立影响生存率。在有可用临床数据的患者亚组（n=63）中，APOEε4等位基因携带者的认知功能衰退更快，而GBA1突变携带者的衰退速度也更快，尽管差异不显著。

结论

了解基因对生存和疾病进展的影响对于患者咨询和纳入临床试验至关重要。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5f6d/11657010/7c1f2fb06155/MDS-39-2280-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5f6d/11657010/7c1f2fb06155/MDS-39-2280-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5f6d/11657010/7c1f2fb06155/MDS-39-2280-g001.jpg

相似文献

1
Effect of GBA1 Mutations and APOE Polymorphisms on Survival and Progression Among Ashkenazi Jews with Dementia with Lewy Bodies.GBA1突变和APOE基因多态性对阿什肯纳兹犹太路易体痴呆患者生存及病情进展的影响
Mov Disord. 2024 Dec;39(12):2280-2285. doi: 10.1002/mds.30003. Epub 2024 Aug 30.
2
The Effect of GBA Mutations and APOE Polymorphisms on Dementia with Lewy Bodies in Ashkenazi Jews.载脂蛋白 E 多态性和 GBA 突变对阿什肯纳兹犹太人路易体痴呆的影响。
J Alzheimers Dis. 2021;80(3):1221-1229. doi: 10.3233/JAD-201295.
3
High Frequency of GBA Gene Mutations in Dementia With Lewy Bodies Among Ashkenazi Jews.载脂蛋白 E 基因 ε4 等位基因与阿尔茨海默病患者脑内神经原纤维缠结和老年斑的关系
JAMA Neurol. 2016 Dec 1;73(12):1448-1453. doi: 10.1001/jamaneurol.2016.1593.
4
A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies.路易体痴呆症中葡萄糖脑苷脂酶突变的多中心研究。
JAMA Neurol. 2013 Jun;70(6):727-35. doi: 10.1001/jamaneurol.2013.1925.
5
Exploring the link between GBA1 mutations and Dementia with Lewy bodies, A mini-review.探讨 GBA1 突变与路易体痴呆之间的联系，一篇迷你综述。
Neurosci Biobehav Rev. 2022 Oct;141:104856. doi: 10.1016/j.neubiorev.2022.104856. Epub 2022 Sep 6.
6
Distinguishing Dementia With Lewy Bodies From Alzheimer Disease: What is the Influence of the GBA Genotype in Ashkenazi Jews?路易体痴呆与阿尔茨海默病的鉴别：GBA 基因型在阿什肯纳兹犹太人中的影响如何？
Alzheimer Dis Assoc Disord. 2019 Jul-Sep;33(3):279-281. doi: 10.1097/WAD.0000000000000283.
7
Dementia with lewy bodies: GBA1 mutations are associated with cerebrospinal fluid alpha-synuclein profile.路易体痴呆症：GBA1 突变与脑脊液 α-突触核蛋白谱相关。
Mov Disord. 2019 Jul;34(7):1069-1073. doi: 10.1002/mds.27731. Epub 2019 Jun 12.
8
The effect of polygenic risk score on PD risk and phenotype in G2019S and carriers.多基因风险评分对G2019S及携带者帕金森病风险和表型的影响。
J Parkinsons Dis. 2025 Mar;15(2):291-299. doi: 10.1177/1877718X241310722. Epub 2025 Jan 17.
9
Associations between APOE polymorphisms and seven diseases with cognitive impairment including Alzheimer's disease, frontotemporal dementia, and dementia with Lewy bodies in southeast China.中国东南部APOE基因多态性与包括阿尔茨海默病、额颞叶痴呆和路易体痴呆在内的七种认知障碍疾病之间的关联。
Psychiatr Genet. 2016 Jun;26(3):124-31. doi: 10.1097/YPG.0000000000000126.
10
Glucocerebrosidase mutations confer a greater risk of dementia during Parkinson's disease course.葡萄糖脑苷脂酶突变使帕金森病患者在病程中更易发生痴呆。
Mov Disord. 2012 Mar;27(3):393-9. doi: 10.1002/mds.24045. Epub 2011 Dec 15.

本文引用的文献

1
APOE4 exacerbates α-synuclein seeding activity and contributes to neurotoxicity in Alzheimer's disease with Lewy body pathology.载脂蛋白 E4 加剧α-突触核蛋白的种子活性，并导致路易体痴呆型阿尔茨海默病的神经毒性。
Acta Neuropathol. 2022 Jun;143(6):641-662. doi: 10.1007/s00401-022-02421-8. Epub 2022 Apr 26.
2
GBA and APOE Impact Cognitive Decline in Parkinson's Disease: A 10-Year Population-Based Study.GBA 和 APOE 对帕金森病认知衰退的影响：一项基于人群的 10 年研究。
Mov Disord. 2022 May;37(5):1016-1027. doi: 10.1002/mds.28932. Epub 2022 Feb 2.
3
Genetics Contributes to Concomitant Pathology and Clinical Presentation in Dementia with Lewy Bodies.
遗传学导致路易体痴呆症的同时发生的病理学和临床表现。
J Alzheimers Dis. 2021;83(1):269-279. doi: 10.3233/JAD-210365.
4
The Effect of GBA Mutations and APOE Polymorphisms on Dementia with Lewy Bodies in Ashkenazi Jews.载脂蛋白 E 多态性和 GBA 突变对阿什肯纳兹犹太人路易体痴呆的影响。
J Alzheimers Dis. 2021;80(3):1221-1229. doi: 10.3233/JAD-201295.
5
Cognition at Each Stage of Lewy Body Disease with Co-occurring Alzheimer's Disease Pathology.路易体病伴发阿尔茨海默病病理各阶段的认知。
J Alzheimers Dis. 2021;80(3):1243-1256. doi: 10.3233/JAD-201187.
6
Cognitive Profile and Markers of Alzheimer Disease-Type Pathology in Patients With Lewy Body Dementias.路易体痴呆患者的认知特征及阿尔茨海默病样病理标志物。
Neurology. 2021 Apr 6;96(14):e1855-e1864. doi: 10.1212/WNL.0000000000011699. Epub 2021 Feb 16.
7
Dementia with lewy bodies: GBA1 mutations are associated with cerebrospinal fluid alpha-synuclein profile.路易体痴呆症：GBA1 突变与脑脊液 α-突触核蛋白谱相关。
Mov Disord. 2019 Jul;34(7):1069-1073. doi: 10.1002/mds.27731. Epub 2019 Jun 12.
8
GBA and APOE ε4 associate with sporadic dementia with Lewy bodies in European genome wide association study.GBA 和 APOE ε4 与欧洲全基因组关联研究中的散发性路易体痴呆相关。
Sci Rep. 2019 May 7;9(1):7013. doi: 10.1038/s41598-019-43458-2.
9
ε4 is associated with severity of Lewy body pathology independent of Alzheimer pathology.ε4 与路易体病理的严重程度相关，而与阿尔茨海默病病理无关。
Neurology. 2018 Sep 18;91(12):e1182-e1195. doi: 10.1212/WNL.0000000000006212. Epub 2018 Aug 24.
10
Features of -associated Parkinson's disease at presentation in the UK study.英国研究中 - 关联帕金森病的发病特征。
J Neurol Neurosurg Psychiatry. 2018 Jul;89(7):702-709. doi: 10.1136/jnnp-2017-317348. Epub 2018 Jan 29.