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本文引用的文献

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The Sporadic Early-onset Alzheimer's Disease Signature Of Atrophy: Preliminary Findings From The Longitudinal Early-onset Alzheimer's Disease Study (LEADS) Cohort.散发性早发性阿尔茨海默病的萎缩特征:来自纵向早发性阿尔茨海默病研究(LEADS)队列的初步发现。
Alzheimers Dement. 2023 Nov;19 Suppl 9(Suppl 9):S74-S88. doi: 10.1002/alz.13466. Epub 2023 Oct 18.
2
The Worldwide Alzheimer's Disease Neuroimaging Initiative: ADNI-3 updates and global perspectives.全球阿尔茨海默病神经影像倡议:ADNI-3更新与全球视角。
Alzheimers Dement (N Y). 2021 Dec 31;7(1):e12226. doi: 10.1002/trc2.12226. eCollection 2021.
3
Black and White individuals differ in dementia prevalence, risk factors, and symptomatic presentation.黑人和白人在痴呆症的患病率、风险因素和症状表现方面存在差异。
Alzheimers Dement. 2022 Aug;18(8):1461-1471. doi: 10.1002/alz.12509. Epub 2021 Dec 2.
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The Longitudinal Early-onset Alzheimer's Disease Study (LEADS): Framework and methodology.纵向早发性阿尔茨海默病研究(LEADS):框架与方法。
Alzheimers Dement. 2021 Dec;17(12):2043-2055. doi: 10.1002/alz.12350. Epub 2021 May 21.
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Factors Associated with Lumbar Puncture Participation in Alzheimer's Disease Research.与阿尔茨海默病研究中腰椎穿刺参与相关的因素。
J Alzheimers Dis. 2020;77(4):1559-1567. doi: 10.3233/JAD-200394.
6
Age and the association between apolipoprotein E genotype and Alzheimer disease: A cerebrospinal fluid biomarker-based case-control study.载脂蛋白 E 基因型与阿尔茨海默病的相关性与年龄的关系:基于脑脊液生物标志物的病例对照研究。
PLoS Med. 2020 Aug 20;17(8):e1003289. doi: 10.1371/journal.pmed.1003289. eCollection 2020 Aug.
7
Exceptionally low likelihood of Alzheimer's dementia in APOE2 homozygotes from a 5,000-person neuropathological study.在一项 5000 人的神经病理学研究中,APOE2 纯合子患阿尔茨海默病痴呆的可能性极低。
Nat Commun. 2020 Feb 3;11(1):667. doi: 10.1038/s41467-019-14279-8.
8
Awareness of genetic risk in the Dominantly Inherited Alzheimer Network (DIAN).显性遗传性阿尔茨海默病网络(DIAN)中的遗传风险意识。
Alzheimers Dement. 2020 Jan;16(1):219-228. doi: 10.1002/alz.12010.
9
Version 3 of the National Alzheimer's Coordinating Center's Uniform Data Set.国家阿尔茨海默病协调中心的统一数据集第 3 版。
Alzheimer Dis Assoc Disord. 2018 Oct-Dec;32(4):351-358. doi: 10.1097/WAD.0000000000000279.
10
Version 3 of the Alzheimer Disease Centers' Neuropsychological Test Battery in the Uniform Data Set (UDS).阿尔茨海默病中心神经心理学测试电池的第 3 版(UDS)在统一数据集中。
Alzheimer Dis Assoc Disord. 2018 Jan-Mar;32(1):10-17. doi: 10.1097/WAD.0000000000000223.

在数据收集接近中点时,对纵向早发性阿尔茨海默病研究(LEADS)队列进行基线表现分析。

Profiling baseline performance on the Longitudinal Early-Onset Alzheimer's Disease Study (LEADS) cohort near the midpoint of data collection.

机构信息

Department of Neurology, Indiana University School of Medicine, Indianapolis, Indiana, USA.

Department of Biostatistics, Center for Statistical Sciences, Brown University, Providence, Rhode Island, USA.

出版信息

Alzheimers Dement. 2023 Nov;19 Suppl 9(Suppl 9):S8-S18. doi: 10.1002/alz.13160. Epub 2023 May 31.

DOI:10.1002/alz.13160
PMID:37256497
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10806768/
Abstract

OBJECTIVE

The Longitudinal Early-Onset Alzheimer's Disease Study (LEADS) seeks to provide comprehensive understanding of early-onset Alzheimer's disease (EOAD; onset <65 years), with the current study profiling baseline clinical, cognitive, biomarker, and genetic characteristics of the cohort nearing the data-collection mid-point.

METHODS

Data from 371 LEADS participants were compared based on diagnostic group classification (cognitively normal [n = 89], amyloid-positive EOAD [n = 212], and amyloid-negative early-onset non-Alzheimer's disease [EOnonAD; n = 70]).

RESULTS

Cognitive performance was worse for EOAD than other groups, and EOAD participants were apolipoprotein E (APOE) ε4 homozygotes at higher rates. An amnestic presentation was common among impaired participants (81%), with several clinical phenotypes present. LEADS participants generally consented at high rates to optional trial procedures.

CONCLUSIONS

We present the most comprehensive baseline characterization of sporadic EOAD in the United States to date. EOAD presents with widespread cognitive impairment within and across clinical phenotypes, with differences in APOE ε4 allele carrier status appearing to be relevant.

HIGHLIGHTS

Findings represent the most comprehensive baseline characterization of sporadic early-onset Alzheimer's disease (EOAD) to date. Cognitive impairment was widespread for EOAD participants and more severe than other groups. EOAD participants were homozygous apolipoprotein E (APOE) ε4 carriers at higher rates than the EOnonAD group. Amnestic presentation predominated in EOAD and EOnonAD participants, but other clinical phenotypes were present.

摘要

目的

纵向早发性阿尔茨海默病研究(LEADS)旨在全面了解早发性阿尔茨海默病(EOAD;发病年龄 <65 岁),目前的研究对接近数据收集中点的队列的基线临床、认知、生物标志物和遗传特征进行了分析。

方法

根据诊断组分类(认知正常 [n=89]、淀粉样蛋白阳性 EOAD [n=212] 和淀粉样蛋白阴性早发性非阿尔茨海默病 [EOnonAD;n=70])比较了 371 名 LEADS 参与者的数据。

结果

EOAD 的认知表现比其他组差,并且 EOAD 参与者的载脂蛋白 E(APOE)ε4 纯合子率更高。记忆障碍是受损参与者的常见表现(81%),存在多种临床表型。LEADS 参与者通常以较高的比例同意可选的试验程序。

结论

我们目前呈现了美国迄今为止最全面的散发性 EOAD 基线特征。EOAD 在临床表型内和之间表现出广泛的认知障碍,APOE ε4 等位基因携带状态的差异似乎具有相关性。

重点

研究结果代表了迄今为止对散发性早发性阿尔茨海默病(EOAD)最全面的基线特征描述。EOAD 参与者的认知障碍广泛且比其他组更严重。APOE ε4 纯合子携带者在 EOAD 参与者中的比例高于 EOnonAD 组。记忆障碍在 EOAD 和 EOnonAD 参与者中占主导地位,但也存在其他临床表型。