Yanfei Ding, Haijuan Chen, Yi Yan, Yinghui Qiu, Aonan Zhao, Binyin Li, Wei Xu, Yulei Deng
Background: Alzheimer’s disease (AD) is a multi-gene inherited disease, and apolipoprotein E (APOE) ɛ4 is a strong risk factor. Other genetic factors are important but limited. Objective: This study aimed to investigate the relationship between 17 single-nucleotide polymorphisms (SNPs) and AD in the Southern Chinese populations. Methods: We recruited 242 AD patients and 208 controls. The SNaPshot technique was used to detect the SNPs. Results: Adjusted for sex and age, we found rs6572869 (FERMT2), rs11604680 (CELF1), and rs1317149 (CELF1) were associated with AD risk in the dominant (rs6572869: p = 0.022, OR = 1.55; rs11604680: p = 0.007, OR = 1.68; rs1317149: p = 0.033, OR = 1.50) and overdominant models (rs6572869: p = 0.001, OR = 1.96; rs11604680: p = 0.002, OR = 1.82; rs1317149: p = 0.003, OR = 1.80). rs9898218 (COPI) was associated with AD risk in the overdominant model (p = 0.004, OR = 1.81). Further, rs2741342 (CHRNA2) was associated with AD protection in the dominant (p = 0.002, OR = 0.5) and additive models (p = 0.002, OR = 0.64). Mutations in rs10742814 (CELF1), rs11039280 (CELF1), and rs3752242 (ABCA7) contributed to AD protection. Among them, rs10742814 (CELF1), rs3752242 (ABCA7), and rs11039280 (CELF1) were more significantly associated with AD carrying APOE ɛ4, whereas rs1317149 (CELF1) showed an opposite trend. Interestingly, rs4147912 (ABCA7) and rs2516049 (HLA-DRB1) were identified to be relevant with AD carrying APOE ɛ4. Using expression quantitative trait locus analysis, we found polymorphisms in CELF1 (rs10742814 and rs11039280), ABCA7 (rs4147912), HLA-DRB1 (rs2516049), and ADGRF4 (rs1109581) correlated with their corresponding gene expression in the brain. Conclusions: We identified four risk and four protective SNPs associated with AD in the Southern Chinese population, with different correlations between APOE ɛ4 carriers and non-carriers. rs4147912 (ABCA7) and rs2516049 (HLA-DRB1) were associated with AD carrying APOE ɛ4.
背景:阿尔茨海默病(Alzheimer 's disease, AD)是一种多基因遗传性疾病，载脂蛋白E (APOE) 4是一个重要的危险因素。其他遗传因素也很重要，但作用有限。目的:研究中国南方人群中17个单核苷酸多态性(snp)与AD的关系。方法:我们招募了242例AD患者和208例对照组。采用SNaPshot技术检测snp。结果:经性别和年龄调整后，我们发现rs6572869 (FERMT2)、rs11604680 (CELF1)和rs1317149 (CELF1)与显性AD风险相关(rs6572869: p = 0.022, OR = 1.55;rs11604680: p = 0.007, OR = 1.68;rs1317149: p = 0.033, OR = 1.50)和优势模型(rs6572869: p = 0.001, OR = 1.96;rs11604680: p = 0.002, OR = 1.82;rs1317149: p = 0.003, OR = 1.80)。在显性模型中，rs9898218 (COPI)与AD风险相关(p = 0.004, OR = 1.81)。此外，rs2741342 (CHRNA2)在显性模型(p = 0.002, OR = 0.5)和加性模型(p = 0.002, OR = 0.64)中与AD保护相关。rs10742814 (CELF1)、rs11039280 (CELF1)和rs3752242 (ABCA7)的突变有助于AD的保护。其中，rs10742814 (CELF1)、rs3752242 (ABCA7)和rs11039280 (CELF1)与AD携带APOE ε 4的相关性更显著，而rs1317149 (CELF1)与AD携带APOE ε 4的相关性相反。有趣的是，rs4147912 (ABCA7)和rs2516049 (HLA-DRB1)被鉴定为与携带APOE 4的AD相关。通过表达数量性状位点分析，我们发现CELF1 (rs10742814和rs11039280)、ABCA7 (rs4147912)、HLA-DRB1 (rs2516049)和ADGRF4 (rs1109581)的多态性与大脑中相应基因的表达相关。结论:我们在中国南方人群中发现了与AD相关的4个风险snp和4个保护性snp, APOE ε 4携带者和非携带者之间存在不同的相关性。rs4147912 (ABCA7)和rs2516049 (HLA-DRB1)与携带APOE 4的AD相关。
{"title":"Relationship Between FERMT2, CELF1, COPI, CHRNA2, and ABCA7 Genetic Polymorphisms and Alzheimer’s Disease Risk in the Southern Chinese Population","authors":"Yanfei Ding, Haijuan Chen, Yi Yan, Yinghui Qiu, Aonan Zhao, Binyin Li, Wei Xu, Yulei Deng","doi":"10.3233/adr-230072","DOIUrl":"https://doi.org/10.3233/adr-230072","url":null,"abstract":"Background: Alzheimer’s disease (AD) is a multi-gene inherited disease, and apolipoprotein E (APOE) ɛ4 is a strong risk factor. Other genetic factors are important but limited. Objective: This study aimed to investigate the relationship between 17 single-nucleotide polymorphisms (SNPs) and AD in the Southern Chinese populations. Methods: We recruited 242 AD patients and 208 controls. The SNaPshot technique was used to detect the SNPs. Results: Adjusted for sex and age, we found rs6572869 (FERMT2), rs11604680 (CELF1), and rs1317149 (CELF1) were associated with AD risk in the dominant (rs6572869: p = 0.022, OR = 1.55; rs11604680: p = 0.007, OR = 1.68; rs1317149: p = 0.033, OR = 1.50) and overdominant models (rs6572869: p = 0.001, OR = 1.96; rs11604680: p = 0.002, OR = 1.82; rs1317149: p = 0.003, OR = 1.80). rs9898218 (COPI) was associated with AD risk in the overdominant model (p = 0.004, OR = 1.81). Further, rs2741342 (CHRNA2) was associated with AD protection in the dominant (p = 0.002, OR = 0.5) and additive models (p = 0.002, OR = 0.64). Mutations in rs10742814 (CELF1), rs11039280 (CELF1), and rs3752242 (ABCA7) contributed to AD protection. Among them, rs10742814 (CELF1), rs3752242 (ABCA7), and rs11039280 (CELF1) were more significantly associated with AD carrying APOE ɛ4, whereas rs1317149 (CELF1) showed an opposite trend. Interestingly, rs4147912 (ABCA7) and rs2516049 (HLA-DRB1) were identified to be relevant with AD carrying APOE ɛ4. Using expression quantitative trait locus analysis, we found polymorphisms in CELF1 (rs10742814 and rs11039280), ABCA7 (rs4147912), HLA-DRB1 (rs2516049), and ADGRF4 (rs1109581) correlated with their corresponding gene expression in the brain. Conclusions: We identified four risk and four protective SNPs associated with AD in the Southern Chinese population, with different correlations between APOE ɛ4 carriers and non-carriers. rs4147912 (ABCA7) and rs2516049 (HLA-DRB1) were associated with AD carrying APOE ɛ4.","PeriodicalId":73594,"journal":{"name":"Journal of Alzheimer's disease reports","volume":" 6","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135290576","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Maria Vassilaki, Jeremy A. Syrjanen, Janina Krell-Roesch, Jonathan Graff-Radford, Prashanthi Vemuri, Eugene L. Scharf, Mary M. Machulda, Julie A. Fields, Walter K. Kremers, Val J. Lowe, Clifford R. Jack, David S. Knopman, Ronald C. Petersen, Yonas E. Geda
The study included 1,738 Mayo Clinic Study of Aging participants (≥50 years old; 1,460 cognitively unimpaired and 278 with mild cognitive impairment (MCI)) and examined the cross-sectional association between cerebrovascular (CVD) imaging biomarkers (e.g., white matter hyperintensities (WMH), infarctions) and Beck Depression Inventory-II (BDI-II) and Beck Anxiety Inventory (BAI) scores, as well as their association with MCI. High (abnormal) WMH burden was significantly associated with having BDI-II>13 and BAI > 7 scores, and both (CVD imaging biomarkers and depression/anxiety) were significantly associated with MCI when included simultaneously in the model, suggesting that both were independently associated with the odds of MCI.
该研究纳入了1738名梅奥诊所老年研究参与者(≥50岁;1460名认知功能未受损和278名轻度认知障碍(MCI))，并检查了脑血管(CVD)成像生物标志物(如白质高信号(WMH)、梗死)与贝克抑郁量表- ii (BDI-II)和贝克焦虑量表(BAI)评分之间的横断面关联，以及它们与MCI的关系。高(异常)WMH负担与bdi - 1和BAI显著相关。当同时纳入模型时，两者(CVD成像生物标志物和抑郁/焦虑)都与MCI显著相关，这表明两者都与MCI的几率独立相关。
{"title":"Association of Cerebrovascular Imaging Biomarkers, Depression, and Anxiety, with Mild Cognitive Impairment","authors":"Maria Vassilaki, Jeremy A. Syrjanen, Janina Krell-Roesch, Jonathan Graff-Radford, Prashanthi Vemuri, Eugene L. Scharf, Mary M. Machulda, Julie A. Fields, Walter K. Kremers, Val J. Lowe, Clifford R. Jack, David S. Knopman, Ronald C. Petersen, Yonas E. Geda","doi":"10.3233/adr-230073","DOIUrl":"https://doi.org/10.3233/adr-230073","url":null,"abstract":"The study included 1,738 Mayo Clinic Study of Aging participants (≥50 years old; 1,460 cognitively unimpaired and 278 with mild cognitive impairment (MCI)) and examined the cross-sectional association between cerebrovascular (CVD) imaging biomarkers (e.g., white matter hyperintensities (WMH), infarctions) and Beck Depression Inventory-II (BDI-II) and Beck Anxiety Inventory (BAI) scores, as well as their association with MCI. High (abnormal) WMH burden was significantly associated with having BDI-II>13 and BAI > 7 scores, and both (CVD imaging biomarkers and depression/anxiety) were significantly associated with MCI when included simultaneously in the model, suggesting that both were independently associated with the odds of MCI.","PeriodicalId":73594,"journal":{"name":"Journal of Alzheimer's disease reports","volume":"2 26","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135819520","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Background: Traditional methods for diagnosing dementia are costly, time-consuming, and somewhat invasive. Since the retina shares significant anatomical similarities with the brain, retinal abnormalities detected via optical coherence tomography (OCT) and OCT angiography (OCTA) have been studied as a potential non-invasive diagnostic tool for neurodegenerative disorders; however, the most effective retinal changes remain a mystery to be unraveled in this review. Objective: This study aims to explore the relationship between retinal abnormalities in OCT/OCTA images and cognitive decline as well as evaluating biomarkers’ effectiveness in detecting neurodegenerative diseases. Methods: A systematic search was conducted on PubMed, Web of Science, and Scopus until December 2022, resulted in 64 papers using agreed search keywords, and inclusion/exclusion criteria. Results: The superior peripapillary retinal nerve fiber layer (pRNFL) is a trustworthy biomarker to identify most Alzheimer’s disease (AD) cases; however, it is inefficient when dealing with mild AD and mild cognitive impairment (MCI). The global pRNFL (pRNFL-G) is another reliable biomarker to discriminate frontotemporal dementia from mild AD and healthy controls (HCs), moderate AD and MCI from HCs, as well as identifing pathological Aβ42/tau in cognitively healthy individuals. Conversely, pRNFL-G fails to realize mild AD and the progression of AD. The average pRNFL thickness variation is considered a viable biomarker to monitor the progression of AD. Finally, the superior and average pRNFL thicknesses are considered consistent for advanced AD but not for early/mild AD. Conclusions: Retinal changes may indicate dementia, but further research is needed to confirm the most effective biomarkers for early and mild AD.
背景:传统的痴呆症诊断方法昂贵、耗时，而且有一定的侵入性。由于视网膜与大脑具有显著的解剖相似性，通过光学相干断层扫描(OCT)和OCT血管造影(OCTA)检测视网膜异常已被研究作为神经退行性疾病的潜在非侵入性诊断工具;然而，最有效的视网膜改变在这篇综述中仍然是一个谜。目的:探讨OCT/OCTA图像视网膜异常与认知能力下降的关系，评价生物标志物在神经退行性疾病检测中的有效性。方法:在PubMed、Web of Science和Scopus上进行系统检索，直到2022年12月，使用商定的搜索关键词和纳入/排除标准获得64篇论文。结果:上乳头状周围视网膜神经纤维层(pRNFL)是识别大多数阿尔茨海默病(AD)的可靠生物标志物;然而，在治疗轻度AD和轻度认知障碍(MCI)时，它是无效的。全球pRNFL (pRNFL- g)是另一个可靠的生物标志物，可区分额颞叶痴呆与轻度AD和健康对照(hc)，中度AD和MCI与hcc，以及识别认知健康个体的病理性Aβ42/tau。相反，pRNFL-G不能实现轻度AD和AD的进展。pRNFL平均厚度变化被认为是监测AD进展的可行生物标志物。最后，优越和平均的pRNFL厚度被认为与晚期AD一致，但与早期/轻度AD不一致。结论:视网膜变化可能预示着痴呆，但需要进一步的研究来确认早期和轻度AD最有效的生物标志物。
{"title":"A Systematic Review on Retinal Biomarkers to Diagnose Dementia from OCT/OCTA Images","authors":"Yehia Ibrahim, Jianyang Xie, Antonella Macerollo, Rodolfo Sardone, Yaochun Shen, Vito Romano, Yalin Zheng","doi":"10.3233/adr-230042","DOIUrl":"https://doi.org/10.3233/adr-230042","url":null,"abstract":"Background: Traditional methods for diagnosing dementia are costly, time-consuming, and somewhat invasive. Since the retina shares significant anatomical similarities with the brain, retinal abnormalities detected via optical coherence tomography (OCT) and OCT angiography (OCTA) have been studied as a potential non-invasive diagnostic tool for neurodegenerative disorders; however, the most effective retinal changes remain a mystery to be unraveled in this review. Objective: This study aims to explore the relationship between retinal abnormalities in OCT/OCTA images and cognitive decline as well as evaluating biomarkers’ effectiveness in detecting neurodegenerative diseases. Methods: A systematic search was conducted on PubMed, Web of Science, and Scopus until December 2022, resulted in 64 papers using agreed search keywords, and inclusion/exclusion criteria. Results: The superior peripapillary retinal nerve fiber layer (pRNFL) is a trustworthy biomarker to identify most Alzheimer’s disease (AD) cases; however, it is inefficient when dealing with mild AD and mild cognitive impairment (MCI). The global pRNFL (pRNFL-G) is another reliable biomarker to discriminate frontotemporal dementia from mild AD and healthy controls (HCs), moderate AD and MCI from HCs, as well as identifing pathological Aβ42/tau in cognitively healthy individuals. Conversely, pRNFL-G fails to realize mild AD and the progression of AD. The average pRNFL thickness variation is considered a viable biomarker to monitor the progression of AD. Finally, the superior and average pRNFL thicknesses are considered consistent for advanced AD but not for early/mild AD. Conclusions: Retinal changes may indicate dementia, but further research is needed to confirm the most effective biomarkers for early and mild AD.","PeriodicalId":73594,"journal":{"name":"Journal of Alzheimer's disease reports","volume":"61 6","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135410129","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Andrea Luque-Tirado, Fátima Montiel-Herrera, Rebeca Maestre-Bravo, Claudia Barril-Aller, Ernesto García-Roldán, José Enrique Arriola-Infante, María Bernal Sánchez-Arjona, Silvia Rodrigo-Herrero, Juan Pedro Vargas-Romero, Emilio Franco-Macías
Background: The “Triana Test” is a novel story recall test based on emotional material with demonstrated accuracy in diagnosing mild cognitive impairment patients. Objective: This study aims to obtain normative data for the “Triana Test”. Methods: A normative study was conducted at a university hospital in Spain. Partners of patients were systematically recruited if eligible (age ≥50, no memory complaints, and a total TMA-93 score at or above the 10th percentile). The “Triana Test” was administered and scored. For developing the normative data, a regression-based method was followed. Results: The final sample included 362 participants (median age = 66, range = 50–88; 64.9% females). A model including age and educational level better predicted the total scores. Combinations of these variables resulted in different 10th percentile scores. Conclusions: Norms for using the “Triana Test” are now available. The provided cutoffs for the 10th percentile will aid in the diagnosis of prodromal Alzheimer’s disease.
{"title":"Norms for the Triana Test: A Story Recall Test Based on Emotional Material","authors":"Andrea Luque-Tirado, Fátima Montiel-Herrera, Rebeca Maestre-Bravo, Claudia Barril-Aller, Ernesto García-Roldán, José Enrique Arriola-Infante, María Bernal Sánchez-Arjona, Silvia Rodrigo-Herrero, Juan Pedro Vargas-Romero, Emilio Franco-Macías","doi":"10.3233/adr-230096","DOIUrl":"https://doi.org/10.3233/adr-230096","url":null,"abstract":"Background: The “Triana Test” is a novel story recall test based on emotional material with demonstrated accuracy in diagnosing mild cognitive impairment patients. Objective: This study aims to obtain normative data for the “Triana Test”. Methods: A normative study was conducted at a university hospital in Spain. Partners of patients were systematically recruited if eligible (age ≥50, no memory complaints, and a total TMA-93 score at or above the 10th percentile). The “Triana Test” was administered and scored. For developing the normative data, a regression-based method was followed. Results: The final sample included 362 participants (median age = 66, range = 50–88; 64.9% females). A model including age and educational level better predicted the total scores. Combinations of these variables resulted in different 10th percentile scores. Conclusions: Norms for using the “Triana Test” are now available. The provided cutoffs for the 10th percentile will aid in the diagnosis of prodromal Alzheimer’s disease.","PeriodicalId":73594,"journal":{"name":"Journal of Alzheimer's disease reports","volume":"60 10","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135410134","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-11-01eCollection Date: 2023-01-01DOI: 10.3233/ADR-230070
Jing Tian, Eric Du, Lan Guo
Alzheimer's disease (AD) is a lethal neurodegenerative disorder characterized by severe brain pathologies and progressive cognitive decline. While the exact cause of this disease remains unknown, emerging evidence suggests that dysregulation of neurotransmitters contributes to the development of AD pathology and symptoms. Serotonin, a critical neurotransmitter in the brain, plays a pivotal role in regulating various brain processes and is implicated in neurological and psychiatric disorders, including AD. Recent studies have shed light on the interplay between mitochondrial function and serotonin regulation in brain physiology. In AD, there is a deficiency of serotonin, along with impairments in mitochondrial function, particularly in serotoninergic neurons. Additionally, altered activity of mitochondrial enzymes, such as monoamine oxidase, may contribute to serotonin dysregulation in AD. Understanding the intricate relationship between mitochondria and serotonin provides valuable insights into the underlying mechanisms of AD and identifies potential therapeutic targets to restore serotonin homeostasis and alleviate AD symptoms. This review summarizes the recent advancements in unraveling the connection between brain mitochondria and serotonin, emphasizing their significance in AD pathogenesis and underscoring the importance of further research in this area. Elucidating the role of mitochondria in serotonin dysfunction will promote the development of therapeutic strategies for the treatment and prevention of this neurodegenerative disorder.
{"title":"Mitochondrial Interaction with Serotonin in Neurobiology and Its Implication in Alzheimer's Disease.","authors":"Jing Tian, Eric Du, Lan Guo","doi":"10.3233/ADR-230070","DOIUrl":"10.3233/ADR-230070","url":null,"abstract":"<p><p>Alzheimer's disease (AD) is a lethal neurodegenerative disorder characterized by severe brain pathologies and progressive cognitive decline. While the exact cause of this disease remains unknown, emerging evidence suggests that dysregulation of neurotransmitters contributes to the development of AD pathology and symptoms. Serotonin, a critical neurotransmitter in the brain, plays a pivotal role in regulating various brain processes and is implicated in neurological and psychiatric disorders, including AD. Recent studies have shed light on the interplay between mitochondrial function and serotonin regulation in brain physiology. In AD, there is a deficiency of serotonin, along with impairments in mitochondrial function, particularly in serotoninergic neurons. Additionally, altered activity of mitochondrial enzymes, such as monoamine oxidase, may contribute to serotonin dysregulation in AD. Understanding the intricate relationship between mitochondria and serotonin provides valuable insights into the underlying mechanisms of AD and identifies potential therapeutic targets to restore serotonin homeostasis and alleviate AD symptoms. This review summarizes the recent advancements in unraveling the connection between brain mitochondria and serotonin, emphasizing their significance in AD pathogenesis and underscoring the importance of further research in this area. Elucidating the role of mitochondria in serotonin dysfunction will promote the development of therapeutic strategies for the treatment and prevention of this neurodegenerative disorder.</p>","PeriodicalId":73594,"journal":{"name":"Journal of Alzheimer's disease reports","volume":"1 1","pages":"1165-1177"},"PeriodicalIF":0.0,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10657725/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81504467","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Yuanyuan Ma, Juan Gong, Lingli Zeng, Qinghua Wang, Xiuqing Yao, Huiming Li, Yaozhi Chen, Feng Liu, Mengyuan Zhang, Hui Ren, Lily Dongxia Xiao, Yan Lian
Background: As the primary caregivers for people with dementia in China, family caregivers face a significant care burden that can negatively impact their mental and physical health. It is vital to investigate ways to support these caregivers. Objective: To assess the effectiveness of a program led by community nurses to support caregivers of individuals with dementia. Methods: A total of 30 caregivers received nurse-led support in addition to usual care, while 28 caregivers received only usual care. The primary outcome was caregivers’ sense of competency in providing dementia care, which was measured using the Short Sense of Competence Questionnaire (SSCQ). Secondary outcomes included caregivers’ ability to perform daily activities, behavioral and psychological symptoms of dementia (BPSD) using a neuropsychiatric inventory questionnaire, and quality of life using the short form health survey (SF-36). The trial was registered at the Chinese Clinical Trial Registry (ChiCTR 2300071484). Results: Compared to the control group, the intervention group had significantly higher SSCQ scores and a lower caregiver distress index over time. Physical and mental health-related quality of life also improved significantly among caregivers in the intervention group. However, there was no significant difference between the two groups in terms of activities of daily living and BPSD. Conclusions: The community nurse-led support program significantly improved caregivers’ competency in providing dementia care and quality of life and reduced distress. These findings have important implications for dementia care policies, resources, and workforce development in China, including strengthening community dementia care services through collaboration with specialists in hospitals.
{"title":"The Effectiveness of a Community Nurse-Led Support Program for Dementia Caregivers in Chinese Communities: The Chongqing Ageing and Dementia Study","authors":"Yuanyuan Ma, Juan Gong, Lingli Zeng, Qinghua Wang, Xiuqing Yao, Huiming Li, Yaozhi Chen, Feng Liu, Mengyuan Zhang, Hui Ren, Lily Dongxia Xiao, Yan Lian","doi":"10.3233/adr-230067","DOIUrl":"https://doi.org/10.3233/adr-230067","url":null,"abstract":"Background: As the primary caregivers for people with dementia in China, family caregivers face a significant care burden that can negatively impact their mental and physical health. It is vital to investigate ways to support these caregivers. Objective: To assess the effectiveness of a program led by community nurses to support caregivers of individuals with dementia. Methods: A total of 30 caregivers received nurse-led support in addition to usual care, while 28 caregivers received only usual care. The primary outcome was caregivers’ sense of competency in providing dementia care, which was measured using the Short Sense of Competence Questionnaire (SSCQ). Secondary outcomes included caregivers’ ability to perform daily activities, behavioral and psychological symptoms of dementia (BPSD) using a neuropsychiatric inventory questionnaire, and quality of life using the short form health survey (SF-36). The trial was registered at the Chinese Clinical Trial Registry (ChiCTR 2300071484). Results: Compared to the control group, the intervention group had significantly higher SSCQ scores and a lower caregiver distress index over time. Physical and mental health-related quality of life also improved significantly among caregivers in the intervention group. However, there was no significant difference between the two groups in terms of activities of daily living and BPSD. Conclusions: The community nurse-led support program significantly improved caregivers’ competency in providing dementia care and quality of life and reduced distress. These findings have important implications for dementia care policies, resources, and workforce development in China, including strengthening community dementia care services through collaboration with specialists in hospitals.","PeriodicalId":73594,"journal":{"name":"Journal of Alzheimer's disease reports","volume":"107 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135011771","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Heba Ahmed Gaber, Eman Mohamed Aly, Eman Saad Mohamed, Marwa Elfoly, Mostafa Adel Rabie, Mona Salah Talaat, El-Sayed Mahmoud El-Sayed
Background: Alzheimer’s disease (AD) is a neurodegenerative disorder that progresses over time. Fourier Transform Infrared Spectroscopy (FTIR) analysis gives identification of the main metabolic changes that happen during neurodegeneration, by monitoring biochemical and molecular structure alterations that can help in AD diagnosis or treatment approach. Objective: The aim of the present work is to assess AD hallmarks in molecular structure of retina and monitor accumulation of amyloid beta42(Aβ42) in brain and retina during disease progression. Methods: AD induced in rats by Aluminum Chloride (AlCl3). Retinal molecular structure during disease progression for 2,4,6 and 8 weeks was assessed by Fourier-transform infrared spectroscopy (FTIR) and the incidence of the disease was confirmed by a behavioural assessment; the Morris Water Maze test. Aβ42 levels in the brain and retina were also measured. Results: The results indicated that cognitive impairment starting from 6 weeks of AlCl3 administration. Retinal concentration of Aβ42 was significant increase (p < 0.05) from 2 weeks that precedes the observed increase of Aβ42 in the brain which appeared after 4 weeks of AlCl3 administration. Multivariate principal component analysis discovers that the variance noticed in the infrared spectra due to AD condition and it is time dependent for progression of the disease. Conclusions: The accumulation of Aβ42 is a sensitive early biomarker in retina for AD. FTIR analysis of the retina revealed changes in hydrogen bond formation or destruction, alterations in lipid chain length and branching accompanied by depleted lipid content and carbonization, as well as degeneration of the retinal tissue due to AD.
{"title":"Linking Cognitive Impairment with Amyloid-β Accumulation in Alzheimer’s Disease: Insights from Behavioral Tests and FTIR Spectroscopy","authors":"Heba Ahmed Gaber, Eman Mohamed Aly, Eman Saad Mohamed, Marwa Elfoly, Mostafa Adel Rabie, Mona Salah Talaat, El-Sayed Mahmoud El-Sayed","doi":"10.3233/adr-230051","DOIUrl":"https://doi.org/10.3233/adr-230051","url":null,"abstract":"Background: Alzheimer’s disease (AD) is a neurodegenerative disorder that progresses over time. Fourier Transform Infrared Spectroscopy (FTIR) analysis gives identification of the main metabolic changes that happen during neurodegeneration, by monitoring biochemical and molecular structure alterations that can help in AD diagnosis or treatment approach. Objective: The aim of the present work is to assess AD hallmarks in molecular structure of retina and monitor accumulation of amyloid beta42(Aβ42) in brain and retina during disease progression. Methods: AD induced in rats by Aluminum Chloride (AlCl3). Retinal molecular structure during disease progression for 2,4,6 and 8 weeks was assessed by Fourier-transform infrared spectroscopy (FTIR) and the incidence of the disease was confirmed by a behavioural assessment; the Morris Water Maze test. Aβ42 levels in the brain and retina were also measured. Results: The results indicated that cognitive impairment starting from 6 weeks of AlCl3 administration. Retinal concentration of Aβ42 was significant increase (p < 0.05) from 2 weeks that precedes the observed increase of Aβ42 in the brain which appeared after 4 weeks of AlCl3 administration. Multivariate principal component analysis discovers that the variance noticed in the infrared spectra due to AD condition and it is time dependent for progression of the disease. Conclusions: The accumulation of Aβ42 is a sensitive early biomarker in retina for AD. FTIR analysis of the retina revealed changes in hydrogen bond formation or destruction, alterations in lipid chain length and branching accompanied by depleted lipid content and carbonization, as well as degeneration of the retinal tissue due to AD.","PeriodicalId":73594,"journal":{"name":"Journal of Alzheimer's disease reports","volume":"61 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135410131","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Haniyeh Marefat, Zahra Vahabi, Neda Afzalian, Mahdiyeh Khanbagi, Hamed Karimi, Fatemeh Ebrahiminia, Chris Kalafatis, Mohammad Hadi Modarres, Seyed-Mahdi Khaligh-Razavi
Background: In early Alzheimer’s disease (AD), high-level visual functions and processing speed are impacted. Few functional magnetic resonance imaging (fMRI) studies have investigated high-level visual deficits in AD, yet none have explored brain activity patterns during rapid animal/non-animal categorization tasks. Objective: To address this, we utilized the previously known Integrated Cognitive Assessment (ICA) to collect fMRI data and compare healthy controls (HC) to individuals with mild cognitive impairment (MCI) and mild AD. Methods: The ICA encompasses a rapid visual categorization task that involves distinguishing between animals and non-animals within natural scenes. To comprehensively explore variations in brain activity levels and patterns, we conducted both univariate and multivariate analyses of fMRI data. Results: The ICA task elicited activation across a range of brain regions, encompassing the temporal, parietal, occipital, and frontal lobes. Univariate analysis, which compared responses to animal versus non-animal stimuli, showed no significant differences in the regions of interest (ROIs) across all groups, with the exception of the left anterior supramarginal gyrus in the HC group. In contrast, multivariate analysis revealed that in both HC and MCI groups, several regions could differentiate between animals and non-animals based on distinct patterns of activity. Notably, such differentiation was absent within the mild AD group. Conclusions: Our study highlights the ICA task’s potential as a valuable cognitive assessment tool designed for MCI and AD. Additionally, our use of fMRI pattern analysis provides valuable insights into the complex changes in brain function associated with AD. This approach holds promise for enhancing our understanding of the disease’s progression.
{"title":"Brain Representation of Animal and Non-Animal Images in Patients with Mild Cognitive Impairment and Alzheimer’s Disease","authors":"Haniyeh Marefat, Zahra Vahabi, Neda Afzalian, Mahdiyeh Khanbagi, Hamed Karimi, Fatemeh Ebrahiminia, Chris Kalafatis, Mohammad Hadi Modarres, Seyed-Mahdi Khaligh-Razavi","doi":"10.3233/adr-230132","DOIUrl":"https://doi.org/10.3233/adr-230132","url":null,"abstract":"Background: In early Alzheimer’s disease (AD), high-level visual functions and processing speed are impacted. Few functional magnetic resonance imaging (fMRI) studies have investigated high-level visual deficits in AD, yet none have explored brain activity patterns during rapid animal/non-animal categorization tasks. Objective: To address this, we utilized the previously known Integrated Cognitive Assessment (ICA) to collect fMRI data and compare healthy controls (HC) to individuals with mild cognitive impairment (MCI) and mild AD. Methods: The ICA encompasses a rapid visual categorization task that involves distinguishing between animals and non-animals within natural scenes. To comprehensively explore variations in brain activity levels and patterns, we conducted both univariate and multivariate analyses of fMRI data. Results: The ICA task elicited activation across a range of brain regions, encompassing the temporal, parietal, occipital, and frontal lobes. Univariate analysis, which compared responses to animal versus non-animal stimuli, showed no significant differences in the regions of interest (ROIs) across all groups, with the exception of the left anterior supramarginal gyrus in the HC group. In contrast, multivariate analysis revealed that in both HC and MCI groups, several regions could differentiate between animals and non-animals based on distinct patterns of activity. Notably, such differentiation was absent within the mild AD group. Conclusions: Our study highlights the ICA task’s potential as a valuable cognitive assessment tool designed for MCI and AD. Additionally, our use of fMRI pattern analysis provides valuable insights into the complex changes in brain function associated with AD. This approach holds promise for enhancing our understanding of the disease’s progression.","PeriodicalId":73594,"journal":{"name":"Journal of Alzheimer's disease reports","volume":"44 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135617368","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Jing-Juan Wang, Qiao-Feng Zhang, Di Liu, Qing Du, Cheng Xu, Quan-Xin Wu, Yi Tang, Wang-Sheng Jin
Background: The acute stage of COVID-19 often presents with neurological manifestations. Objective: This study aims to investigate the long-term neurological effects on survivors. Methods: This study recruited 1,546 COVID-19 survivors from Wuhan, including 1,119 nonsevere cases and 427 severe survivors. Participants were interviewed two years after discharge to report their neurological symptoms. The neurological symptoms of COVID-19 were compared between survivors of severe and nonsevere COVID-19. Results: Among the 1,546 COVID-19 survivors, 44.24% discovered at least one neurological symptom. The most prevalent self-reported symptom was fatigue (28.33%), memory deficit (13.26%), attention deficit (9.96%), myalgia (8.34%), dizziness (3.82%), and headache (2.52%). Severe cases had higher incidences of fatigue, myalgia, memory deficit, attention deficit than nonsevere cases. Older age, severe COVID-19, and comorbidity burden were associated with long-term neurological symptoms. Conclusion: Neurological symptoms are common among COVID-19 survivors, especially in severe cases.
{"title":"Self-Reported Neurological Symptoms Two Years After Hospital Discharge Among COVID-19 Survivors","authors":"Jing-Juan Wang, Qiao-Feng Zhang, Di Liu, Qing Du, Cheng Xu, Quan-Xin Wu, Yi Tang, Wang-Sheng Jin","doi":"10.3233/adr-230078","DOIUrl":"https://doi.org/10.3233/adr-230078","url":null,"abstract":"Background: The acute stage of COVID-19 often presents with neurological manifestations. Objective: This study aims to investigate the long-term neurological effects on survivors. Methods: This study recruited 1,546 COVID-19 survivors from Wuhan, including 1,119 nonsevere cases and 427 severe survivors. Participants were interviewed two years after discharge to report their neurological symptoms. The neurological symptoms of COVID-19 were compared between survivors of severe and nonsevere COVID-19. Results: Among the 1,546 COVID-19 survivors, 44.24% discovered at least one neurological symptom. The most prevalent self-reported symptom was fatigue (28.33%), memory deficit (13.26%), attention deficit (9.96%), myalgia (8.34%), dizziness (3.82%), and headache (2.52%). Severe cases had higher incidences of fatigue, myalgia, memory deficit, attention deficit than nonsevere cases. Older age, severe COVID-19, and comorbidity burden were associated with long-term neurological symptoms. Conclusion: Neurological symptoms are common among COVID-19 survivors, especially in severe cases.","PeriodicalId":73594,"journal":{"name":"Journal of Alzheimer's disease reports","volume":"19 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135944793","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-10-09eCollection Date: 2023-01-01DOI: 10.3233/ADR-230103
Russell H Swerdlow, Omar Jawdat, Liskin Swint-Kruse, Ryan Townley
Fused in sarcoma (FUS) mutations cause frontotemporal dementia (FTD) and motor neuron disease (MND). Here, we describe a 43-year-old man with progressive behavioral and cognitive change, myelopathy, clinical and electrophysiologic evidence of MND, and a FUS variant of unknown significance (VUS). This VUS, a heterozygous G559A transition (Gly187Ser), was previously reported in a patient with sporadic MND and affects important FUS biophysical properties. While this rare variant's presence in a second patient with a related neurodegenerative syndrome does not establish pathogenicity, it raises the question of whether its association with our patient is coincidental and increases the possibility that FUS G559A is pathogenic.
{"title":"FUS G559A Mutation in a Patient with a Frontotemporal Dementia-Motor Neuron Disease Compatible Syndrome: A Case Report.","authors":"Russell H Swerdlow, Omar Jawdat, Liskin Swint-Kruse, Ryan Townley","doi":"10.3233/ADR-230103","DOIUrl":"10.3233/ADR-230103","url":null,"abstract":"<p><p>Fused in sarcoma (FUS) mutations cause frontotemporal dementia (FTD) and motor neuron disease (MND). Here, we describe a 43-year-old man with progressive behavioral and cognitive change, myelopathy, clinical and electrophysiologic evidence of MND, and a FUS variant of unknown significance (VUS). This VUS, a heterozygous G559A transition (Gly187Ser), was previously reported in a patient with sporadic MND and affects important FUS biophysical properties. While this rare variant's presence in a second patient with a related neurodegenerative syndrome does not establish pathogenicity, it raises the question of whether its association with our patient is coincidental and increases the possibility that FUS G559A is pathogenic.</p>","PeriodicalId":73594,"journal":{"name":"Journal of Alzheimer's disease reports","volume":"7 1","pages":"1121-1126"},"PeriodicalIF":0.0,"publicationDate":"2023-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/e7/2b/adr-7-adr230103.PMC10578331.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41241781","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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