• 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

帕金森病 GBA1 变异分类：GBA1-PD 浏览器。

Classification of GBA1 Variants in Parkinson's Disease: The GBA1-PD Browser.

机构信息

Department of Human Genetics, McGill University, Montréal, Québec, Canada.

The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, Québec, Canada.

出版信息

Mov Disord. 2023 Mar;38(3):489-495. doi: 10.1002/mds.29314. Epub 2023 Jan 4.

DOI:10.1002/mds.29314
PMID:36598340
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10033371/
Abstract

BACKGROUND

GBA1 variants are among the most common genetic risk factors for Parkinson's disease (PD). GBA1 variants can be classified into three categories based on their role in Gaucher's disease (GD) or PD: severe, mild, and risk variant (for PD).

OBJECTIVE

This review aims to generate and share a comprehensive database for GBA1 variants reported in PD to support future research and clinical trials.

METHODS

We performed a literature search for all GBA1 variants that have been reported in PD. The data have been standardized and complemented with variant classification, odds ratio if available, and other data.

RESULTS

We found 371 GBA1 variants reported in PD: 22 mild, 84 severe, 3 risk variants, and 262 of unknown status. We created a browser containing up-to-date information on these variants (https://pdgenetics.shinyapps.io/GBA1Browser/).

CONCLUSIONS

The classification and browser presented in this work should inform and support basic, translational, and clinical research on GBA1-PD. © 2023 International Parkinson and Movement Disorder Society.

摘要

背景

GBA1 变异是帕金森病（PD）最常见的遗传风险因素之一。根据其在戈谢病（GD）或 PD 中的作用，GBA1 变异可分为三类：严重、轻度和风险变异（用于 PD）。

目的

本综述旨在生成和共享 PD 中报道的 GBA1 变异的综合数据库，以支持未来的研究和临床试验。

方法

我们对所有已在 PD 中报道的 GBA1 变异进行了文献检索。这些数据已经标准化，并补充了变异分类、如果有可用的比值比以及其他数据。

结果

我们发现了 371 种在 PD 中报道的 GBA1 变异：22 种轻度、84 种严重、3 种风险变异和 262 种未知状态。我们创建了一个包含这些变异最新信息的浏览器（https://pdgenetics.shinyapps.io/GBA1Browser/）。

结论

本工作中提出的分类和浏览器应能为 GBA1-PD 的基础、转化和临床研究提供信息和支持。© 2023 国际帕金森病和运动障碍学会。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/694c/10033371/46dec116fa2e/nihms-1860075-f0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/694c/10033371/32408a94f0d8/nihms-1860075-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/694c/10033371/46dec116fa2e/nihms-1860075-f0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/694c/10033371/32408a94f0d8/nihms-1860075-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/694c/10033371/46dec116fa2e/nihms-1860075-f0002.jpg

相似文献

1
Classification of GBA1 Variants in Parkinson's Disease: The GBA1-PD Browser.帕金森病 GBA1 变异分类：GBA1-PD 浏览器。
Mov Disord. 2023 Mar;38(3):489-495. doi: 10.1002/mds.29314. Epub 2023 Jan 4.
2
Classification and Genotype-Phenotype Relationships of GBA1 Variants: MDSGene Systematic Review.GBA1基因变异的分类及基因型-表型关系：MDSGene系统评价
Mov Disord. 2025 Apr;40(4):605-618. doi: 10.1002/mds.30141. Epub 2025 Feb 10.
3
Plasma Glucosylsphingosine in GBA1 Mutation Carriers with and without Parkinson's Disease.载脂蛋白 E4 等位基因对阿尔茨海默病患者脑葡萄糖代谢的影响
Mov Disord. 2022 Feb;37(2):416-421. doi: 10.1002/mds.28846. Epub 2021 Nov 6.
4
A Large-Scale Full GBA1 Gene Screening in Parkinson's Disease in the Netherlands.在荷兰进行的帕金森病全 GBA1 基因大规模筛查。
Mov Disord. 2020 Sep;35(9):1667-1674. doi: 10.1002/mds.28112. Epub 2020 Jul 2.
5
Increased glucosylsphingosine levels and Gaucher disease in GBA1-associated Parkinson's disease.鞘氨醇葡萄糖苷水平升高与 GBA1 相关帕金森病中的戈谢病。
Parkinsonism Relat Disord. 2024 Jul;124:107023. doi: 10.1016/j.parkreldis.2024.107023. Epub 2024 Jun 1.
6
Early-onset Parkinson's disease in a patient with a rare homozygous pathogenic GBA1 variant and no Gaucher disease symptoms.一名患有罕见纯合致病性GBA1变异且无戈谢病症状的早发性帕金森病患者。
Neurogenetics. 2025 Feb 15;26(1):28. doi: 10.1007/s10048-025-00810-1.
7
Polygenic Parkinson's Disease Genetic Risk Score as Risk Modifier of Parkinsonism in Gaucher Disease.多基因帕金森病遗传风险评分作为戈谢病帕金森综合征的风险修饰因子。
Mov Disord. 2023 May;38(5):899-903. doi: 10.1002/mds.29342. Epub 2023 Mar 3.
8
Evolution of prodromal parkinsonian features in a cohort of mutation-positive individuals: a 6-year longitudinal study.队列研究中突变阳性个体前驱帕金森特征的演变：一项 6 年纵向研究。
J Neurol Neurosurg Psychiatry. 2019 Oct;90(10):1091-1097. doi: 10.1136/jnnp-2019-320394. Epub 2019 Jun 20.
9
AAV delivery of GBA1 suppresses α-synuclein accumulation in Parkinson's disease models and restores functions in Gaucher's disease models.通过腺相关病毒递送GBA1可抑制帕金森病模型中α-突触核蛋白的积累，并恢复戈谢病模型中的功能。
PLoS One. 2025 May 7;20(5):e0321145. doi: 10.1371/journal.pone.0321145. eCollection 2025.
10
The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease.E326K 变异的葡萄糖脑苷脂酶易患帕金森病，但不会导致戈谢病。
Mov Disord. 2013 Feb;28(2):232-236. doi: 10.1002/mds.25248. Epub 2012 Dec 5.

引用本文的文献

1
Classification of GBA1 variants and their impact on Parkinson's disease: an in silico score analysis.GBA1基因变异的分类及其对帕金森病的影响：一项计算机模拟评分分析。
NPJ Parkinsons Dis. 2025 Aug 2;11(1):226. doi: 10.1038/s41531-025-01060-6.
2
Exploring GBA1 gene in Parkinson's disease: Prevalence and variant spectrum from Asia minor.探索帕金森病中的GBA1基因：来自小亚细亚地区的患病率及变异谱。
Neurol Sci. 2025 Jun 20. doi: 10.1007/s10072-025-08286-5.
3
Penetrance of Parkinson's disease in GBA1 carriers depends on variant severity and polygenic background.

本文引用的文献

1
The Mutation Matters: CSF Profiles of GCase, Sphingolipids, α-Synuclein in PD.基因突变很重要：PD 患者的 CSF 中 GCase、鞘脂类、α-突触核蛋白的特征。
Mov Disord. 2021 May;36(5):1216-1228. doi: 10.1002/mds.28472. Epub 2021 Feb 6.
2
Penetrance of Glucocerebrosidase (GBA) Mutations in Parkinson's Disease: A Kin Cohort Study.帕金森病中葡萄糖脑苷脂酶（GBA）突变的外显率：一项近亲队列研究。
Mov Disord. 2020 Nov;35(11):2111-2114. doi: 10.1002/mds.28200. Epub 2020 Aug 7.
3
Evaluating the Role of SNCA, LRRK2, and GBA in Chinese Patients With Early-Onset Parkinson's Disease.
GBA1基因携带者中帕金森病的外显率取决于变异的严重程度和多基因背景。
NPJ Parkinsons Dis. 2025 Jun 12;11(1):162. doi: 10.1038/s41531-025-00997-y.
4
Genetics Influences Telomere Length in Parkinson's Disease: A Study in Monozygotic Discordant Twins.遗传学对帕金森病端粒长度的影响：一项对单卵双生子不一致性双胞胎的研究。
Mov Disord. 2025 Aug;40(8):1618-1624. doi: 10.1002/mds.30224. Epub 2025 May 9.
5
Sphingolipidoses: expanding the spectrum of α-synucleinopathies.鞘脂贮积病：扩展α-突触核蛋白病的范围
J Neural Transm (Vienna). 2025 Apr 17. doi: 10.1007/s00702-025-02925-z.
6
Comparative analysis of methods for measuring glucocerebrosidase enzyme activity in patients with Parkinson's disease with the variant.帕金森病伴该变体患者中葡萄糖脑苷脂酶活性测量方法的比较分析。
Front Neurol. 2025 Apr 2;16:1523655. doi: 10.3389/fneur.2025.1523655. eCollection 2025.
7
Cholinergic Degeneration and Cognitive Function in Early GBA1-Related Parkinson's Disease.早期GBA1相关帕金森病中的胆碱能变性与认知功能
Ann Neurol. 2025 Apr 16. doi: 10.1002/ana.27248.
8
Cryo-TEM structure of β-glucocerebrosidase in complex with its transporter LIMP-2.β-葡萄糖脑苷脂酶与其转运蛋白LIMP-2复合物的冷冻电镜结构
Nat Commun. 2025 Mar 30;16(1):3074. doi: 10.1038/s41467-025-58340-1.
9
A PheWAS approach to identify associations of GBA1 variants with comprehensive phenotypes beyond neurological diseases.一种全基因组关联研究方法，用于识别GBA1基因变异与神经系统疾病以外的综合表型之间的关联。
NPJ Parkinsons Dis. 2025 Mar 17;11(1):48. doi: 10.1038/s41531-025-00901-8.
10
Plasma Glucosylceramide Levels Are Regulated by ATP10D and Are Not Involved in Parkinson's Disease Pathogenesis.血浆葡萄糖神经酰胺水平受ATP10D调节且不参与帕金森病发病机制。
Ann Neurol. 2025 May;97(5):873-878. doi: 10.1002/ana.27219. Epub 2025 Mar 1.
评估SNCA、LRRK2和GBA在中国早发性帕金森病患者中的作用。
Mov Disord. 2020 Nov;35(11):2046-2055. doi: 10.1002/mds.28191. Epub 2020 Jul 16.
4
A Large-Scale Full GBA1 Gene Screening in Parkinson's Disease in the Netherlands.在荷兰进行的帕金森病全 GBA1 基因大规模筛查。
Mov Disord. 2020 Sep;35(9):1667-1674. doi: 10.1002/mds.28112. Epub 2020 Jul 2.
5
The mutational constraint spectrum quantified from variation in 141,456 humans.从 141456 名人类个体的变异中量化的突变约束谱。
Nature. 2020 May;581(7809):434-443. doi: 10.1038/s41586-020-2308-7. Epub 2020 May 27.
6
Whole-exome sequencing in early-onset Parkinson's disease among ethnic Chinese.早发性帕金森病患者的全外显子组测序。
Neurobiol Aging. 2020 Jun;90:150.e5-150.e11. doi: 10.1016/j.neurobiolaging.2019.12.023. Epub 2020 Jan 7.
7
Screening of the glucocerebrosidase (GBA) gene in South Africans of African ancestry with Parkinson's disease.对非洲裔南非帕金森病患者的葡萄糖脑苷脂酶（GBA）基因进行筛查。
Neurobiol Aging. 2020 Apr;88:156.e11-156.e14. doi: 10.1016/j.neurobiolaging.2019.12.011. Epub 2019 Dec 20.
8
Revisiting the non-Gaucher-GBA-E326K carrier state: Is it sufficient to increase Parkinson's disease risk?重新审视非 Gaucher-GBA-E326K 携带者状态：是否足以增加帕金森病风险？
Mol Genet Metab. 2019 Dec;128(4):470-475. doi: 10.1016/j.ymgme.2019.10.001. Epub 2019 Oct 13.
9
The genetic architecture of Parkinson's disease.帕金森病的遗传结构。
Lancet Neurol. 2020 Feb;19(2):170-178. doi: 10.1016/S1474-4422(19)30287-X. Epub 2019 Sep 11.
10
Glucocerebrosidase and its relevance to Parkinson disease.葡萄糖脑苷脂酶及其与帕金森病的关系。
Mol Neurodegener. 2019 Aug 29;14(1):36. doi: 10.1186/s13024-019-0336-2.