• 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

Case Report of a 63-Year-Old Patient With Alzheimer Disease and a Novel Presenilin 2 Mutation.

作者信息

Wells Jennie L, Pasternak Stephen H

机构信息

Department of Medicine, Division of Geriatric Medicine, Schulich School of Medicine and Dentistry, Western University.

St. Joseph's Health Care London-Parkwood Institute.

出版信息

Alzheimer Dis Assoc Disord. 2019 Apr-Jun;33(2):166-169. doi: 10.1097/WAD.0000000000000269.

DOI:10.1097/WAD.0000000000000269
PMID:30119059
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6554015/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1954/6554015/3d00e0896dec/wad-33-166-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1954/6554015/c2cc82c82bad/wad-33-166-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1954/6554015/cb05e4fd17b6/wad-33-166-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1954/6554015/3d00e0896dec/wad-33-166-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1954/6554015/c2cc82c82bad/wad-33-166-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1954/6554015/cb05e4fd17b6/wad-33-166-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1954/6554015/3d00e0896dec/wad-33-166-g003.jpg

相似文献

1
Case Report of a 63-Year-Old Patient With Alzheimer Disease and a Novel Presenilin 2 Mutation.一名63岁阿尔茨海默病患者及新型早老素2突变的病例报告。
Alzheimer Dis Assoc Disord. 2019 Apr-Jun;33(2):166-169. doi: 10.1097/WAD.0000000000000269.
2
Alois Alzheimer's case, Auguste D., did not carry the N141I mutation in PSEN2 characteristic of Alzheimer disease in Volga Germans.
Arch Neurol. 2011 Sep;68(9):1210-1, author reply 1211. doi: 10.1001/archneurol.2011.218.
3
First report of PSEN2 mutation presenting as posterior cortical atrophy.首例表现为后部皮质萎缩的PSEN2基因突变报告。
Alzheimer Dis Assoc Disord. 2015 Jul-Sep;29(3):249-51. doi: 10.1097/WAD.0000000000000052.
4
Presenilin 2 Ser130Leu mutation in a case of late-onset "sporadic" Alzheimer's disease.
J Neurol. 2007 Mar;254(3):391-3. doi: 10.1007/s00415-006-0373-y. Epub 2007 Mar 7.
5
Gene symbol: PSEN2. Disease: Alzheimer disease.
Hum Genet. 2008 Oct;124(3):304.
6
[Familial Alzheimer disease].[家族性阿尔茨海默病]
Nihon Rinsho. 2011 Dec;69 Suppl 10 Pt 2:246-51.
7
A Review of the Familial Alzheimer's Disease Locus PRESENILIN 2 and Its Relationship to PRESENILIN 1.早老素蛋白 2 相关家族性阿尔茨海默病基因座的研究进展及其与早老素蛋白 1 的关系
J Alzheimers Dis. 2018;66(4):1323-1339. doi: 10.3233/JAD-180656.
8
A novel Italian presenilin 2 gene mutation with prevalent behavioral phenotype.一种具有普遍行为表型的新型意大利早老素2基因突变。
J Alzheimers Dis. 2009;16(3):509-11. doi: 10.3233/JAD-2009-0986.
9
A novel mutation in the predicted TMIII domain of the PSEN2 gene in an Italian pedigree with atypical Alzheimer's disease.一个意大利家族性阿尔茨海默病患者 PSEN2 基因预测的跨膜结构域 III 区的新型突变。
J Alzheimers Dis. 2010;20(1):43-7. doi: 10.3233/JAD-2010-1369.
10
Presenilin-2 gene mutation presenting as Lewy body dementia?表现为路易体痴呆的早老素-2基因突变？
Neurol Sci. 2011 Jun;32(3):533-4. doi: 10.1007/s10072-011-0497-4. Epub 2011 Mar 16.

引用本文的文献

1
Case study of a 47-year-old long COVID patient diagnosed with Alzheimer's disease.一名47岁的长期新冠患者被诊断出患有阿尔茨海默病的病例研究。
Quant Imaging Med Surg. 2025 Jul 1;15(7):6535-6540. doi: 10.21037/qims-2025-125. Epub 2025 Jun 30.
2
A novel mutation in amnestic early-onset Alzheimer's disease (EOAD): A familial case series.遗忘型早发性阿尔茨海默病（EOAD）中的一种新型突变：一个家族病例系列
J Alzheimers Dis Rep. 2025 Jun 25;9:25424823251348676. doi: 10.1177/25424823251348676. eCollection 2025 Jan-Dec.
3
Cerebral Small Vessel Disease in Sporadic and Familial Alzheimer Disease.

本文引用的文献

1
Neuropathology of Autosomal Dominant Alzheimer Disease in the National Alzheimer Coordinating Center Database.国家阿尔茨海默病协调中心数据库中常染色体显性阿尔茨海默病的神经病理学
J Neuropathol Exp Neurol. 2016 Mar;75(3):284-90. doi: 10.1093/jnen/nlv028. Epub 2016 Feb 17.
2
Pilot whole-exome sequencing of a German early-onset Alzheimer's disease cohort reveals a substantial frequency of PSEN2 variants.对一个德国早发性阿尔茨海默病队列进行的先导全外显子组测序揭示了PSEN2变异的高频率。
Neurobiol Aging. 2016 Jan;37:208.e11-208.e17. doi: 10.1016/j.neurobiolaging.2015.09.016. Epub 2015 Sep 30.
3
Mutations in presenilin 2 and its implications in Alzheimer's disease and other dementia-associated disorders.
散发性和家族性阿尔茨海默病中的脑小血管病。
Am J Pathol. 2021 Nov;191(11):1888-1905. doi: 10.1016/j.ajpath.2021.07.004. Epub 2021 Jul 28.
早老素2的突变及其在阿尔茨海默病和其他痴呆相关疾病中的意义。
Clin Interv Aging. 2015 Jul 14;10:1163-72. doi: 10.2147/CIA.S85808. eCollection 2015.
4
First report of PSEN2 mutation presenting as posterior cortical atrophy.首例表现为后部皮质萎缩的PSEN2基因突变报告。
Alzheimer Dis Assoc Disord. 2015 Jul-Sep;29(3):249-51. doi: 10.1097/WAD.0000000000000052.
5
Symptom onset in autosomal dominant Alzheimer disease: a systematic review and meta-analysis.常染色体显性阿尔茨海默病的症状发作：一项系统综述和荟萃分析。
Neurology. 2014 Jul 15;83(3):253-60. doi: 10.1212/WNL.0000000000000596. Epub 2014 Jun 13.
6
Probable novel PSEN2 Val214Leu mutation in Alzheimer's disease supported by structural prediction.结构预测支持的阿尔茨海默病中可能存在的新型PSEN2基因Val214Leu突变
BMC Neurol. 2014 May 15;14:105. doi: 10.1186/1471-2377-14-105.
7
Apolipoprotein E and Alzheimer disease: risk, mechanisms and therapy.载脂蛋白 E 与阿尔茨海默病：风险、机制与治疗。
Nat Rev Neurol. 2013 Feb;9(2):106-18. doi: 10.1038/nrneurol.2012.263. Epub 2013 Jan 8.
8
The role of apolipoprotein E in Alzheimer's disease.载脂蛋白E在阿尔茨海默病中的作用。
Neuron. 2009 Aug 13;63(3):287-303. doi: 10.1016/j.neuron.2009.06.026.
9
APOE epsilon 4 lowers age at onset and is a high risk factor for Alzheimer's disease; a case control study from central Norway.APOE ε4降低发病年龄，是阿尔茨海默病的高风险因素；来自挪威中部的一项病例对照研究。
BMC Neurol. 2008 Apr 16;8:9. doi: 10.1186/1471-2377-8-9.
10
Cerebral amyloid angiopathy and parenchymal amyloid deposition in transgenic mice expressing the Danish mutant form of human BRI2.在表达人BRI2丹麦突变形式的转基因小鼠中的脑淀粉样血管病和实质淀粉样沉积
Brain Pathol. 2009 Jan;19(1):58-68. doi: 10.1111/j.1750-3639.2008.00164.x. Epub 2008 Apr 10.