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本文引用的文献

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Reference intervals for plasma amyloid-β, total tau, and phosphorylated tau181 in healthy elderly Chinese individuals without cognitive impairment.健康中国老年人无认知障碍者血浆淀粉样蛋白-β、总 tau 和磷酸化 tau181 的参考区间。
Alzheimers Res Ther. 2023 May 26;15(1):100. doi: 10.1186/s13195-023-01246-1.
2
A neuropsychological profile and its correlation with neuroimaging markers in patients with subcortical ischaemic vascular dementia.皮质下缺血性血管性痴呆患者的神经心理学特征及其与神经影像学标志物的相关性。
Int J Geriatr Psychiatry. 2023 Mar;38(3):e5900. doi: 10.1002/gps.5900.
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Vascular and Nonvascular Mechanisms of Cognitive Impairment and Dementia.认知障碍和痴呆的血管及非血管机制
Clin Geriatr Med. 2023 Feb;39(1):109-122. doi: 10.1016/j.cger.2022.07.006. Epub 2022 Oct 18.
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The BDNF Val66Met Polymorphism (rs6265) Modulates Inflammation and Neurodegeneration in the Early Phases of Multiple Sclerosis.BDNF Val66Met 多态性(rs6265)调节多发性硬化早期的炎症和神经退行性变。
Genes (Basel). 2022 Feb 10;13(2):332. doi: 10.3390/genes13020332.
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Association of BDNF Val66Met With Tau Hyperphosphorylation and Cognition in Dominantly Inherited Alzheimer Disease.BDNF Val66Met 与显性遗传性阿尔茨海默病中 Tau 过度磷酸化和认知的关联。
JAMA Neurol. 2022 Mar 1;79(3):261-270. doi: 10.1001/jamaneurol.2021.5181.
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Cerebral Hemodynamics and Carotid Atherosclerosis in Patients With Subcortical Ischemic Vascular Dementia.皮质下缺血性血管性痴呆患者的脑血流动力学与颈动脉粥样硬化
Front Aging Neurosci. 2021 Nov 22;13:741881. doi: 10.3389/fnagi.2021.741881. eCollection 2021.
7
Clinical, Neuropsychological, and Neuroimaging Characteristics of Amyloid- positive vs. Amyloid-negative Patients with Clinically Diagnosed Alzheimer's Disease and Amnestic Mild Cognitive Impairment.与临床诊断的阿尔茨海默病和遗忘型轻度认知障碍的淀粉样蛋白阴性患者相比,淀粉样蛋白阳性患者的临床、神经心理学和神经影像学特征。
Curr Alzheimer Res. 2021;18(6):523-532. doi: 10.2174/1567205018666211001113349.
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Neurofilament Light Chain as a Biomarker for Cognitive Decline in Parkinson Disease.神经丝轻链作为帕金森病认知下降的生物标志物。
Mov Disord. 2021 Dec;36(12):2945-2950. doi: 10.1002/mds.28779. Epub 2021 Sep 4.
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The role of genetic polymorphisms in executive functioning performance in temporal lobe epilepsy.遗传多态性在颞叶癫痫执行功能表现中的作用。
Epilepsy Behav. 2021 Aug;121(Pt A):108088. doi: 10.1016/j.yebeh.2021.108088. Epub 2021 Jun 5.
10
The Brain-Derived Neurotrophic Factor Val66Met Polymorphism Can Protect Against Cognitive Impairment in Multiple Sclerosis.脑源性神经营养因子Val66Met多态性可预防多发性硬化症中的认知障碍。
Front Neurol. 2021 Mar 16;12:645220. doi: 10.3389/fneur.2021.645220. eCollection 2021.

脑源性神经营养因子基因多态性影响皮质下缺血性血管性痴呆患者的认知功能和神经丝轻链水平。

Brain-derived neurotrophic factor gene polymorphism affects cognitive function and neurofilament light chain level in patients with subcortical ischaemic vascular dementia.

作者信息

Yao Xiaojuan, Yang Guotao, Fang Tingting, Tian Zhuo, Lu Yunyao, Chen Feifan, Che Ping, Chen Jingshan, Zhang Nan

机构信息

Department of Neurology, Tianjin Neurological Institute, Tianjin Medical University General Hospital, Tianjin, China.

Department of Neurology, Cangzhou Central Hospital, Cangzhou, China.

出版信息

Front Aging Neurosci. 2023 Oct 9;15:1244191. doi: 10.3389/fnagi.2023.1244191. eCollection 2023.

DOI:10.3389/fnagi.2023.1244191
PMID:37876876
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10590892/
Abstract

OBJECTIVE

To investigate the effects of brain-derived neurotrophic factor (BDNF) gene polymorphism on cognitive function, neuroimaging and blood biological markers in patients with subcortical ischaemic vascular dementia (SIVD).

METHODS

A total of 81 patients with SIVD were included. According to their BDNF gene polymorphism, the participants were divided into the Val/Val ( = 26), Val/Met ( = 35), and Met/Met ( = 20) groups. A comprehensive neuropsychological evaluation and multimodal brain MRI scan were performed. MRI markers for small vessel disease were visually rated or quantitatively analysed. Moreover, 52 patients were further evaluated with blood marker assays, including amyloid beta (Aβ), phosphorylated tau at threonine-181 (P-tau181), glial fibrillary acidic protein (GFAP), total tau (T-tau) and neurofilament light chain (NfL).

RESULTS

There were no significant differences in demographics, disease duration or MRI markers of small vessel disease between the three groups. Compared with the Val/Val and Val/Met groups, the Met/Met group showed worse performance in the verbal fluency test and higher levels of plasma NfL.

CONCLUSION

The rs6265 polymorphism of the BDNF gene is associated with semantic language fluency in patients with SIVD. The Met genotype may be a risk factor for cognitive impairment and neuronal injury.

摘要

目的

探讨脑源性神经营养因子(BDNF)基因多态性对皮质下缺血性血管性痴呆(SIVD)患者认知功能、神经影像学及血液生物学标志物的影响。

方法

共纳入81例SIVD患者。根据BDNF基因多态性,将参与者分为Val/Val组(n = 26)、Val/Met组(n = 35)和Met/Met组(n = 20)。进行了全面的神经心理学评估和多模态脑MRI扫描。对小血管病的MRI标志物进行视觉评分或定量分析。此外,对52例患者进一步进行血液标志物检测,包括β淀粉样蛋白(Aβ)、苏氨酸181位点磷酸化tau蛋白(P-tau181)、胶质纤维酸性蛋白(GFAP)、总tau蛋白(T-tau)和神经丝轻链(NfL)。

结果

三组在人口统计学、病程或小血管病的MRI标志物方面无显著差异。与Val/Val组和Val/Met组相比,Met/Met组在言语流畅性测试中表现更差,血浆NfL水平更高。

结论

BDNF基因的rs6265多态性与SIVD患者的语义语言流畅性有关。Met基因型可能是认知障碍和神经元损伤的危险因素。