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The FGF14 GAA repeat expansion is a major cause of ataxia in the Cypriot population. FGF14 GAA 重复扩增是塞浦路斯人共济失调的主要原因。
IF 4.1 Q1 CLINICAL NEUROLOGY Pub Date : 2025-01-03 eCollection Date: 2025-01-01 DOI: 10.1093/braincomms/fcae479
Ioannis Livanos, Christina Votsi, Kyriaki Michailidou, David Pellerin, Bernard Brais, Stephan Zuchner, Marios Pantzaris, Kleopas A Kleopa, Eleni Zamba Papanicolaou, Kyproula Christodoulou

Dominantly inherited intronic GAA repeat expansions in the fibroblast growth factor 14 gene have recently been shown to cause spinocerebellar ataxia 27B. Currently, the pathogenic threshold of (GAA)≥300 repeat units is considered highly penetrant, while (GAA)250-299 is likely pathogenic with reduced penetrance. This study investigated the frequency of the GAA repeat expansion and the phenotypic profile in a Cypriot cohort with unresolved late-onset cerebellar ataxia. We analysed this trinucleotide repeat in 155 patients with late-onset cerebellar ataxia and 227 non-neurological disease controls. The repeat locus was examined by long-range PCR followed by fragment analysis using capillary electrophoresis, agarose gel electrophoresis and automated electrophoresis. A comprehensive comparison of all three electrophoresis techniques was conducted. Additionally, bidirectional repeat-primed PCRs and Sanger sequencing were carried out to confirm the absence of any interruptions or non-GAA motifs in the expanded alleles. The (GAA)≥250 repeat expansion was present in 12 (7.7%) patients. The average age at disease onset was 60 ± 13.5 years. The earliest age of onset was observed in a patient with a (GAA)287 repeat expansion, with ataxia symptoms appearing at 25 years of age. All patients with spinocerebellar ataxia 27B displayed symptoms of gait and appendicular ataxia. Nystagmus was observed in 41.7% of the patients, while 58.3% exhibited dysarthria. Our findings indicate that spinocerebellar ataxia 27B represents the predominant aetiology of autosomal dominant cerebellar ataxia in the Cypriot population, as this is the first dominant repeat expansion ataxia type detected in this population. Given our results and existing research, we propose including fibroblast growth factor 14 GAA repeat expansion testing as a first-tier genetic diagnostic approach for patients with late-onset cerebellar ataxia.

成纤维细胞生长因子14基因中显性遗传的内含子GAA重复扩增最近被证明可引起脊髓小脑性共济失调27B。目前,(GAA)≥300个重复单位的致病阈值被认为是高渗透的,而(GAA)250-299可能是具有低外显率的致病阈值。本研究调查了塞浦路斯迟发性小脑性共济失调患者GAA重复扩增的频率和表型特征。我们分析了155例迟发性小脑性共济失调患者和227例非神经系统疾病对照者的三核苷酸重复序列。采用远程PCR检测重复位点,然后采用毛细管电泳、琼脂糖凝胶电泳和自动电泳进行片段分析。对这三种电泳技术进行了全面的比较。此外,进行双向重复引物pcr和Sanger测序以确认扩增等位基因中不存在任何中断或非gaa基序。12例(7.7%)患者出现(GAA)≥250次重复扩增。平均发病年龄为60±13.5岁。最早发病年龄在一名(GAA)287重复扩张患者中观察到,共济失调症状出现在25岁。所有脊髓小脑性共济失调27B患者均表现出步态和阑尾性共济失调的症状。41.7%的患者有眼球震颤,58.3%的患者有构音障碍。我们的研究结果表明,脊髓小脑性共济失调27B是塞浦路斯人群中常染色体显性小脑性共济失调的主要病因,因为这是该人群中检测到的第一个显性重复扩张型共济失调。鉴于我们的结果和现有的研究,我们建议将成纤维细胞生长因子14 GAA重复扩增检测作为晚发性小脑性共济失调患者的一级遗传诊断方法。
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引用次数: 0
Cochlear implantation in adults with acquired single-sided deafness improves cortical processing and comprehension of speech presented to the non-implanted ears: a longitudinal EEG study. 成人获得性单侧耳聋的人工耳蜗植入改善了皮质处理和对未植入耳朵的言语的理解:一项纵向脑电图研究。
IF 4.1 Q1 CLINICAL NEUROLOGY Pub Date : 2025-01-03 eCollection Date: 2025-01-01 DOI: 10.1093/braincomms/fcaf001
Ya-Ping Chen, Patrick Neff, Sabine Leske, Daniel D E Wong, Nicole Peter, Jonas Obleser, Tobias Kleinjung, Andrew Dimitrijevic, Sarang S Dalal, Nathan Weisz

Former studies have established that individuals with a cochlear implant (CI) for treating single-sided deafness experience improved speech processing after implantation. However, it is not clear how each ear contributes separately to improve speech perception over time at the behavioural and neural level. In this longitudinal EEG study with four different time points, we measured neural activity in response to various temporally and spectrally degraded spoken words presented monaurally to the CI and non-CI ears (5 left and 5 right ears) in 10 single-sided CI users and 10 age- and sex-matched individuals with normal hearing. Subjective comprehension ratings for each word were also recorded. Data from single-sided CI participants were collected pre-CI implantation, and at 3, 6 and 12 months after implantation. We conducted a time-resolved representational similarity analysis on the EEG data to quantify whether and how neural patterns became more similar to those of normal hearing individuals. At 6 months after implantation, the speech comprehension ratings for the degraded words improved in both ears. Notably, the improvement was more pronounced for the non-CI ears than the CI ears. Furthermore, the enhancement in the non-CI ears was paralleled by increased similarity to neural representational patterns of the normal hearing control group. The maximum of this effect coincided with peak decoding accuracy for spoken-word comprehension (600-1200 ms after stimulus onset). The present data demonstrate that cortical processing gradually normalizes within months after CI implantation for speech presented to the non-CI ear. CI enables the deaf ear to provide afferent input, which, according to our results, complements the input of the non-CI ear, gradually improving its function. These novel findings underscore the feasibility of tracking neural recovery after auditory input restoration using advanced multivariate analysis methods, such as representational similarity analysis.

以前的研究已经证实,使用人工耳蜗(CI)治疗单侧耳聋的个体在植入后语音处理得到改善。然而,目前还不清楚,随着时间的推移,每只耳朵是如何在行为和神经水平上分别促进语言感知能力的提高的。在这项具有四个不同时间点的纵向脑电图研究中,我们测量了10名单侧CI使用者和10名年龄和性别匹配的正常听力个体对各种时间和频谱退化的口语词汇的反应。对每个单词的主观理解评分也被记录下来。来自单侧CI参与者的数据在CI植入前、植入后3、6和12个月收集。我们对脑电图数据进行了时间分辨的代表性相似性分析,以量化神经模式是否以及如何与正常听力个体更相似。植入后6个月,双耳对退化词汇的语音理解评分均有所提高。值得注意的是,非CI耳的改善比CI耳更明显。此外,非ci耳的增强与正常听力对照组神经表征模式的相似性增加是平行的。这种效应的最大值与口语理解的解码准确率峰值(刺激开始后600-1200 ms)一致。目前的数据表明,大脑皮层的加工过程在脑内植入后的几个月内逐渐恢复正常。CI使聋耳提供传入输入,根据我们的研究结果,这补充了非CI耳的输入,逐渐提高了其功能。这些新发现强调了使用先进的多变量分析方法(如表征相似性分析)跟踪听觉输入恢复后神经恢复的可行性。
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引用次数: 0
Dissociable components of visual perceptual learning characterized by non-invasive brain stimulation: Stage 1 Registered Report. 以非侵入性脑刺激为特征的视觉知觉学习的可分离成分:第一阶段注册报告。
IF 4.1 Q1 CLINICAL NEUROLOGY Pub Date : 2025-01-02 eCollection Date: 2025-01-01 DOI: 10.1093/braincomms/fcae468
Marcello Maniglia

Visual perceptual learning (VPL), the training-induced improvement in visual tasks, has long been considered the product of neural plasticity at early and local stages of signal processing. However, recent evidence suggests that multiple networks and mechanisms, including stimulus- and task-specific plasticity, concur in generating VPL. Accordingly, early models of VPL, which characterized learning as being local and mostly involving early sensory areas, such as V1, have been updated to embrace these newfound complexities, acknowledging the involvement on parietal (i.e. intra-parietal sulcus) and frontal (i.e. dorsolateral prefrontal cortex) areas, in aspects concerning decision-making, feedback integration and task structure. However, evidence of multiple brain regions differentially involved in different aspects of learning is thus far mostly correlational, emerging from electrophysiological and neuroimaging techniques. To directly address these multiple components of VPL, we propose to use a causal neuromodulation technique, namely transcranial random noise stimulation, to selectively modulate the activity of different brain regions suggested to be involved in various aspects of learning. Specifically, we will target a region in the occipital cortex, which has been associated with stimulus-specific plasticity, and one in the parietal cortex, which has been associated with task-specific plasticity, in a between-subject design. Measures of transfer of learning to untrained stimuli and tasks will be used to evaluate the role of different regions and test for double dissociations between learning effects and stimulated area, shedding lights on learning mechanisms in the visual system. Evidence of dissociable mechanisms of learning can help refine current models of VPL and may help develop more effective visual training and rehabilitation protocols.

视觉感知学习(VPL)作为训练诱导的视觉任务的改进,一直被认为是信号处理早期和局部阶段神经可塑性的产物。然而,最近的证据表明,多种网络和机制,包括刺激和任务特异性可塑性,共同产生VPL。因此,早期的VPL模型,其特征是学习是局部的,主要涉及早期感觉区域,如V1,已经更新为包含这些新发现的复杂性,承认参与顶叶(即顶叶内沟)和额叶(即背外侧前额叶皮质)区域,在决策,反馈整合和任务结构方面。然而,到目前为止,从电生理和神经成像技术中发现的多个大脑区域不同地参与学习的不同方面的证据主要是相关的。为了直接解决这些VPL的多个组成部分,我们建议使用因果神经调节技术,即经颅随机噪声刺激,选择性地调节被认为参与学习各个方面的不同大脑区域的活动。具体来说,我们将在受试者之间的设计中瞄准枕骨皮层的一个区域,该区域与刺激特异性可塑性有关,以及顶叶皮层的一个区域,该区域与任务特异性可塑性有关。学习转移到非训练刺激和任务的测量将用于评估不同区域的作用,并测试学习效果和刺激区域之间的双重分离,揭示视觉系统中的学习机制。可分离学习机制的证据可以帮助完善当前的VPL模型,并可能有助于开发更有效的视觉训练和康复方案。
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引用次数: 0
Effects of diet and ovariectomy on Toxoplasma gondii brain infection: functional alterations and neuronal loss in rats. 饮食和卵巢切除对刚地弓形虫脑感染的影响:大鼠的功能改变和神经元丢失。
IF 4.1 Q1 CLINICAL NEUROLOGY Pub Date : 2024-12-31 eCollection Date: 2025-01-01 DOI: 10.1093/braincomms/fcae441
Nene Ahidjo, Paul F Seke Etet, Leonard Ngarka, Frederic Maidawa Yaya, Ethel W Ndianteng, Aude L Eyenga Nna, Luc Yvan Meka'a Zang, Christelle Kemmo, Caroline N C Nwasike, Floriane G Yonkeu Tatchou, Wepnyu Y Njamnshi, Leonard N Nfor, Patrick V Tsouh Fokou, Sefirin Djiogue, Fabrice Fekam Boyom, Bonaventure T Ngadjui, Alfred K Njamnshi

Epidemiological evidence associates Toxoplasma gondii latent infection with the development of neuropsychiatric disorders, and various immunological and environmental factors play key pathophysiological roles through host immune response alterations. We investigated the cognitive and motor alterations occurring in the terminal stage of T. gondii infection in rats, and whether a low-protein diet, a high-fat diet or ovariectomy may accelerate their development, given the role of malnutrition and menopause on immunity and resistance to infection. In two sets of experiments, 2-month-old (157.5 ± 4.3 g, n = 42) male (n = 18) and female (n = 24) Wistar rats were infected with T. gondii (ATCC 40050). Open-field and elevated plus maze tests were performed in the terminal stage of infection first and then in the early stage in low-protein diet-fed, high-fat diet-fed and ovariectomized infected rats. Late-stage (90 days) infected and early-stage (17 days) low-protein diet-fed groups showed significant decreases in body weight (42.42%↓, P = 0.016 and 57.14%↓, P < 0.001 versus non-infected, respectively), increases in body temperature (P = 0.001 and P < 0.001, respectively), decreases in blood glucose levels (P = 0.006 and P = 0.020, respectively), signs of cognitive and motor impairment and lower neuron counts. The alterations observed in high-fat diet-fed and ovariectomized infected animals were milder. Low-protein diet feeding to T. gondii-infected rats accelerated the occurrence of the infection terminal stage. Thus, a diet low in proteins could transform a slow early-stage T. gondii infection into an active neurotoxoplasmosis with neuropsychiatric manifestations and possible neurodegeneration in rats.

流行病学证据表明,刚地弓形虫潜伏感染与神经精神疾病的发生有关,多种免疫和环境因素通过改变宿主免疫应答发挥关键的病理生理作用。我们研究了弓形虫感染末期大鼠的认知和运动改变,以及考虑到营养不良和更年期对免疫和抗感染的作用,低蛋白饮食、高脂肪饮食或卵巢切除术是否会加速它们的发育。两组实验分别用2月龄(157.5±4.3 g, n = 42)只雄性(n = 18)和雌性(n = 24)只Wistar大鼠感染弓形虫(ATCC 40050)。对低蛋白饮食、高脂肪饮食和去卵巢的感染大鼠分别在感染末期和早期分别进行野外和高架迷宫试验。感染晚期(90天)和早期(17天)低蛋白饮食喂养组的小鼠体重显著下降(分别为42.42%,P = 0.016和57.14%,P < 0.001),体温升高(分别为P = 0.001和P < 0.001),血糖水平下降(分别为P = 0.006和P = 0.020),有认知和运动障碍的迹象,神经元数量减少。在高脂肪饮食喂养和切除卵巢的感染动物中观察到的变化较温和。对刚地弓形虫感染大鼠进行低蛋白饲粮喂养可加速感染终末期的发生。因此,低蛋白饮食可以将早期缓慢的弓形虫感染转化为具有神经精神表现和可能的神经退行性变的活动性神经弓形虫病。
{"title":"Effects of diet and ovariectomy on <i>Toxoplasma gondii</i> brain infection: functional alterations and neuronal loss in rats.","authors":"Nene Ahidjo, Paul F Seke Etet, Leonard Ngarka, Frederic Maidawa Yaya, Ethel W Ndianteng, Aude L Eyenga Nna, Luc Yvan Meka'a Zang, Christelle Kemmo, Caroline N C Nwasike, Floriane G Yonkeu Tatchou, Wepnyu Y Njamnshi, Leonard N Nfor, Patrick V Tsouh Fokou, Sefirin Djiogue, Fabrice Fekam Boyom, Bonaventure T Ngadjui, Alfred K Njamnshi","doi":"10.1093/braincomms/fcae441","DOIUrl":"10.1093/braincomms/fcae441","url":null,"abstract":"<p><p>Epidemiological evidence associates <i>Toxoplasma gondii</i> latent infection with the development of neuropsychiatric disorders, and various immunological and environmental factors play key pathophysiological roles through host immune response alterations. We investigated the cognitive and motor alterations occurring in the terminal stage of <i>T. gondii</i> infection in rats, and whether a low-protein diet, a high-fat diet or ovariectomy may accelerate their development, given the role of malnutrition and menopause on immunity and resistance to infection. In two sets of experiments, 2-month-old (157.5 ± 4.3 g, <i>n</i> = 42) male (<i>n</i> = 18) and female (<i>n</i> = 24) Wistar rats were infected with <i>T. gondii</i> (ATCC 40050). Open-field and elevated plus maze tests were performed in the terminal stage of infection first and then in the early stage in low-protein diet-fed, high-fat diet-fed and ovariectomized infected rats. Late-stage (90 days) infected and early-stage (17 days) low-protein diet-fed groups showed significant decreases in body weight (42.42%↓, <i>P</i> = 0.016 and 57.14%↓, <i>P</i> < 0.001 versus non-infected, respectively), increases in body temperature (<i>P</i> = 0.001 and <i>P</i> < 0.001, respectively), decreases in blood glucose levels (<i>P</i> = 0.006 and <i>P</i> = 0.020, respectively), signs of cognitive and motor impairment and lower neuron counts. The alterations observed in high-fat diet-fed and ovariectomized infected animals were milder. Low-protein diet feeding to <i>T. gondii</i>-infected rats accelerated the occurrence of the infection terminal stage. Thus, a diet low in proteins could transform a slow early-stage <i>T. gondii</i> infection into an active neurotoxoplasmosis with neuropsychiatric manifestations and possible neurodegeneration in rats.</p>","PeriodicalId":93915,"journal":{"name":"Brain communications","volume":"7 1","pages":"fcae441"},"PeriodicalIF":4.1,"publicationDate":"2024-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11686407/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142916571","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}
引用次数: 0
Aberrant functional connectivity between the retrosplenial cortex and hippocampal subregions in amnestic mild cognitive impairment and Alzheimer's disease. 遗忘性轻度认知障碍和阿尔茨海默病中脾后皮层和海马亚区功能连接异常
IF 4.1 Q1 CLINICAL NEUROLOGY Pub Date : 2024-12-31 eCollection Date: 2025-01-01 DOI: 10.1093/braincomms/fcae476
Junkai Wang, Shui Liu, Peipeng Liang, Bin Cui, Zhiqun Wang
<p><p>The posterior cingulate cortex and hippocampus are the core regions involved in episodic memory, and they exhibit functional connectivity changes in the development and progression of Alzheimer's disease. Previous studies have demonstrated that the posterior cingulate cortex and hippocampus are both cytoarchitectonically heterogeneous regions. Specifically, the retrosplenial cortex, typically subsumed under the posterior cingulate cortex, is an area functionally and anatomically distinct from the posterior cingulate cortex, and the hippocampus is composed of several subregions that participate in multiple cognitive processes. However, little is known about the functional connectivity patterns of the retrosplenial cortex or other parts of the posterior cingulate cortex with hippocampal subregions and their differential vulnerability to Alzheimer's disease pathology. Demographic data, neuropsychological assessments, and resting-state functional magnetic resonance imaging data were collected from 60 Alzheimer's disease participants, 60 participants with amnestic mild cognitive impairment, and 60 sex-matched normal controls. The bilateral retrosplenial cortex, other parts of the posterior cingulate cortex, and hippocampus subregions (including the bilateral anterior hippocampus and posterior hippocampus) were selected to investigate functional connectivity alterations in amnestic mild cognitive impairment and Alzheimer's disease. Resting-state functional connectivity analysis demonstrated heterogeneity in the degree of connectivity between the hippocampus and different parts of the total posterior cingulate cortex, with considerably greater functional connectivity of the retrosplenial cortex with the hippocampus compared with other parts of the posterior cingulate cortex. Furthermore, the bilateral retrosplenial cortex exhibited widespread intrinsic functional connectivity with all anterior-posterior hippocampus subregions. Compared to the normal controls, the amnestic mild cognitive impairment and Alzheimer's disease groups showed different magnitudes of decreased functional connectivity between the retrosplenial cortex and the contralateral posterior hippocampus. Additionally, diminished functional connectivity between the left retrosplenial cortex and right posterior hippocampus was correlated with clinical disease severity in amnestic mild cognitive impairment subjects, and the combination of multiple functional connectivity indicators of the retrosplenial cortex can discriminate the three groups from each other. These findings confirm and extend previous studies suggesting that the retrosplenial cortex is extensively and functionally connected with hippocampus subregions and that these functional connections are selectively affected in the Alzheimer's disease continuum, with prominent disruptions in functional connectivity between the retrosplenial cortex and contralateral posterior hippocampus underpinning episodic memory impairment assoc
后扣带皮层和海马是参与情景记忆的核心区域,在阿尔茨海默病的发生发展过程中表现出功能连通性的改变。以往的研究表明,后扣带皮层和海马都是细胞结构不均匀的区域。具体来说,脾后皮层通常归入后扣带皮层,是一个在功能和解剖学上与后扣带皮层不同的区域,海马由几个参与多种认知过程的亚区组成。然而,关于脾后皮层或后扣带皮层其他部分与海马亚区的功能连接模式以及它们对阿尔茨海默病病理的不同易感性,我们知之甚少。从60名阿尔茨海默病患者、60名患有遗忘性轻度认知障碍的参与者和60名性别匹配的正常对照中收集了人口统计学数据、神经心理学评估和静息状态功能磁共振成像数据。选择双侧脾后皮质、后扣带皮质的其他部分和海马亚区(包括双侧海马前区和海马后区)来研究遗忘性轻度认知障碍和阿尔茨海默病的功能连通性改变。静息状态功能连通性分析显示,海马与整个后扣带皮层不同部位之间的连通性存在异质性,脾后皮层与海马的功能连通性明显高于后扣带皮层的其他部位。此外,双侧脾后皮层与所有海马前后亚区表现出广泛的内在功能连通性。与正常对照组相比,健忘轻度认知障碍组和阿尔茨海默病组表现出不同程度的脾后皮质与对侧后海马之间功能连通性下降。此外,遗忘型轻度认知障碍患者左侧脾后皮质与右侧后海马的功能连通性减弱与临床疾病严重程度相关,且结合多项脾后皮质功能连通性指标可区分三组。这些发现证实并扩展了先前的研究,表明脾后皮质与海马体亚区在功能上广泛连接,这些功能连接在阿尔茨海默病连续体中有选择性地受到影响,脾后皮质和对侧后海马体之间的功能连接明显中断,支持与该疾病相关的情景记忆障碍。
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引用次数: 0
Diagnosis of cognitive impairment and dementia: blood plasma and optical coherence tomography. 认知障碍和痴呆的诊断:血浆和光学相干断层扫描。
IF 4.1 Q1 CLINICAL NEUROLOGY Pub Date : 2024-12-27 eCollection Date: 2025-01-01 DOI: 10.1093/braincomms/fcae472
Vidishaa Jali, Qinglin Zhang, Joyce Ruifen Chong, Damon Wong, Bingyao Tan, Gerhard Garhöfer, Saima Hilal, Mitchell K P Lai, Leopold Schmetterer, Christopher Li-Hsian Chen, Jacqueline Chua

Accurate and early diagnosis of Alzheimer's disease and vascular dementia is crucial for enabling timely interventions and improving patient outcomes. This study evaluates the diagnostic performance of plasma biomarkers (neurofilament light chain and phosphorylated tau181) and retinal biomarkers (retinal nerve fibre layer and ganglion cell-inner plexiform layer), individually and in combination, in differentiating moderate cognitive impairment and dementia from mild cognitive impairment and no cognitive impairment. A cross-sectional study was conducted involving 509 participants, aged 50 and older, recruited from a memory clinic. The participants were categorized as normal (n = 100), mild cognitive impairment (n = 144), moderate cognitive impairment (n = 90) or dementia (n = 175) based on detailed clinical assessments, neuropsychological testing and MRI scans. The thickness of the ganglion cell-inner plexiform layer (P < 0.001) and retinal nerve fibre layer (P = 0.030) decreased progressively from normal cognition to cognitive impairment and dementia. The thickest layers were observed in individuals with no cognitive impairment (mean ± standard deviation: ganglion cell-inner plexiform layer: 76 ± 11 µm, retinal nerve fibre layer: 92 ± 10 µm), while the thinnest layers were found in individuals with dementia (ganglion cell-inner plexiform layer: 72 ± 14 µm, retinal nerve fibre layer: 89 ± 12 µm). Plasma biomarker levels increased progressively from normal cognition to cognitive impairment and dementia (P < 0.001). Levels were lowest in individuals with no cognitive impairment [median (interquartile range): neurofilament light chain: 15 (9) pg/mL, phosphorylated tau181: 1.85 (1.00) pg/mL] and highest in those with dementia [neurofilament light chain: 34 (27) pg/mL, phosphorylated tau181: 3.24 (2.81) pg/mL]. After adjusting for retinal scan signal strength, neurofilament light chain showed a stronger negative association with retinal nerve fibre layer thickness [standardized beta estimate (β) = -0.184] and ganglion cell-inner plexiform layer thickness (β = -0.139) compared to phosphorylated tau181, which exhibited weaker associations with ganglion cell-inner plexiform layer (β = -0.091) and retinal nerve fibre layer (β = -0.059). While retinal parameters provided modest discriminatory ability (AUC = 0.60), plasma biomarkers demonstrated superior diagnostic performance (AUC = 0.76). Notably, neurofilament light chain had a stronger association with retinal thinning than phosphorylated tau181 and offered superior diagnostic value for identifying moderate cognitive decline. These findings underscore the potential of plasma biomarkers, particularly neurofilament light chain, for the early detection of dementia.

准确和早期诊断阿尔茨海默病和血管性痴呆对于及时干预和改善患者预后至关重要。本研究评估血浆生物标志物(神经丝轻链和磷酸化tau181)和视网膜生物标志物(视网膜神经纤维层和神经节细胞-内丛状层)单独和联合用于区分中度认知障碍和痴呆与轻度认知障碍和无认知障碍的诊断性能。一项横断面研究从一家记忆诊所招募了509名年龄在50岁及以上的参与者。根据详细的临床评估、神经心理测试和MRI扫描,参与者被分为正常(n = 100)、轻度认知障碍(n = 144)、中度认知障碍(n = 90)或痴呆(n = 175)。神经节细胞-内丛状层厚度(P < 0.001)和视网膜神经纤维层厚度(P = 0.030)从认知正常到认知障碍和痴呆呈递减趋势。其中,无认知障碍者层数最厚(平均±标准差:神经节细胞-内丛状层:76±11µm,视网膜神经纤维层:92±10µm),痴呆者层数最薄(神经节细胞-内丛状层:72±14µm,视网膜神经纤维层:89±12µm)。血浆生物标志物水平从正常认知到认知障碍和痴呆逐渐升高(P < 0.001)。无认知障碍个体的水平最低[中位数(四分位数范围):神经丝轻链:15 (9)pg/mL,磷酸化tau181: 1.85 (1.00) pg/mL],痴呆患者的水平最高[神经丝轻链:34 (27)pg/mL,磷酸化tau181: 3.24 (2.81) pg/mL]。在调整视网膜扫描信号强度后,与磷酸化的tau181相比,神经丝轻链与视网膜神经纤维层厚度(标准化β估计(β) = -0.184)和神经节细胞-内丛状层厚度(β = -0.139)呈较强的负相关,与神经节细胞-内丛状层(β = -0.091)和视网膜神经纤维层(β = -0.059)的相关性较弱。虽然视网膜参数提供了适度的区分能力(AUC = 0.60),但血浆生物标志物表现出卓越的诊断性能(AUC = 0.76)。值得注意的是,与磷酸化的tau181相比,神经丝轻链与视网膜变薄的关联更强,并且在识别中度认知能力下降方面具有更好的诊断价值。这些发现强调了血浆生物标志物,特别是神经丝轻链在早期检测痴呆症方面的潜力。
{"title":"Diagnosis of cognitive impairment and dementia: blood plasma and optical coherence tomography.","authors":"Vidishaa Jali, Qinglin Zhang, Joyce Ruifen Chong, Damon Wong, Bingyao Tan, Gerhard Garhöfer, Saima Hilal, Mitchell K P Lai, Leopold Schmetterer, Christopher Li-Hsian Chen, Jacqueline Chua","doi":"10.1093/braincomms/fcae472","DOIUrl":"10.1093/braincomms/fcae472","url":null,"abstract":"<p><p>Accurate and early diagnosis of Alzheimer's disease and vascular dementia is crucial for enabling timely interventions and improving patient outcomes. This study evaluates the diagnostic performance of plasma biomarkers (neurofilament light chain and phosphorylated tau181) and retinal biomarkers (retinal nerve fibre layer and ganglion cell-inner plexiform layer), individually and in combination, in differentiating moderate cognitive impairment and dementia from mild cognitive impairment and no cognitive impairment. A cross-sectional study was conducted involving 509 participants, aged 50 and older, recruited from a memory clinic. The participants were categorized as normal (<i>n</i> = 100), mild cognitive impairment (<i>n</i> = 144), moderate cognitive impairment (<i>n</i> = 90) or dementia (<i>n</i> = 175) based on detailed clinical assessments, neuropsychological testing and MRI scans. The thickness of the ganglion cell-inner plexiform layer (<i>P</i> < 0.001) and retinal nerve fibre layer (<i>P</i> = 0.030) decreased progressively from normal cognition to cognitive impairment and dementia. The thickest layers were observed in individuals with no cognitive impairment (mean ± standard deviation: ganglion cell-inner plexiform layer: 76 ± 11 µm, retinal nerve fibre layer: 92 ± 10 µm), while the thinnest layers were found in individuals with dementia (ganglion cell-inner plexiform layer: 72 ± 14 µm, retinal nerve fibre layer: 89 ± 12 µm). Plasma biomarker levels increased progressively from normal cognition to cognitive impairment and dementia (<i>P</i> < 0.001). Levels were lowest in individuals with no cognitive impairment [median (interquartile range): neurofilament light chain: 15 (9) pg/mL, phosphorylated tau181: 1.85 (1.00) pg/mL] and highest in those with dementia [neurofilament light chain: 34 (27) pg/mL, phosphorylated tau181: 3.24 (2.81) pg/mL]. After adjusting for retinal scan signal strength, neurofilament light chain showed a stronger negative association with retinal nerve fibre layer thickness [standardized beta estimate (<i>β</i>) = -0.184] and ganglion cell-inner plexiform layer thickness (<i>β</i> = -0.139) compared to phosphorylated tau181, which exhibited weaker associations with ganglion cell-inner plexiform layer (<i>β</i> = -0.091) and retinal nerve fibre layer (<i>β</i> = -0.059). While retinal parameters provided modest discriminatory ability (AUC = 0.60), plasma biomarkers demonstrated superior diagnostic performance (AUC = 0.76). Notably, neurofilament light chain had a stronger association with retinal thinning than phosphorylated tau181 and offered superior diagnostic value for identifying moderate cognitive decline. These findings underscore the potential of plasma biomarkers, particularly neurofilament light chain, for the early detection of dementia.</p>","PeriodicalId":93915,"journal":{"name":"Brain communications","volume":"7 1","pages":"fcae472"},"PeriodicalIF":4.1,"publicationDate":"2024-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11694681/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142924200","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}
引用次数: 0
A 50-year data-driven model of disability and lesion load trajectories in progressive multiple sclerosis. 进展性多发性硬化症中残疾和病变负荷轨迹的50年数据驱动模型
IF 4.1 Q1 CLINICAL NEUROLOGY Pub Date : 2024-12-27 eCollection Date: 2025-01-01 DOI: 10.1093/braincomms/fcae474
Neil P Oxtoby, Frederik Barkhof

This scientific commentary refers to 'A data-driven model of disability progression in progressive multiple sclerosis', by Garbarino et al. (https://doi.org/10.1093/braincomms/fcae434).

这篇科学评论引用了Garbarino等人的“进行性多发性硬化症残疾进展的数据驱动模型”(https://doi.org/10.1093/braincomms/fcae434)。
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引用次数: 0
Advances in assessment and cognitive neurorehabilitation of HIV-related neurocognitive impairment. hiv相关神经认知损伤的评估和认知神经康复研究进展。
IF 4.1 Q1 CLINICAL NEUROLOGY Pub Date : 2024-12-26 eCollection Date: 2025-01-01 DOI: 10.1093/braincomms/fcae399
Elia L Fischer, Alexis Renaud, Petr Grivaz, Giovanni Di Liberto, Philippe Ryvlin, Matthias Cavassini, Renaud A Du Pasquier, Arseny A Sokolov

Neurocognitive impairment (NCI) is present in around 40% of people with HIV and substantially affects everyday life, adherence to combined antiretroviral therapy (cART) and overall life expectancy. Suboptimal therapy regimen, opportunistic infections, substance abuse and highly prevalent psychiatric co-morbidities contribute to NCI in people with HIV. In this review, we highlight the need for efficacious treatment of HIV-related NCI through pharmacological approaches and cognitive neurorehabilitation, discussing recent randomized controlled trials in this domain. We also discuss the benefits of a thorough and interdisciplinary diagnostic work-up between specialists in neurology, psychiatry, neuropsychology and infectious diseases, helping to disentangle the various factors contributing to cognitive complaints and deficits in people with HIV. While the advent of cART has contributed to slowing the progression of cognitive deficits in people with HIV and reducing the prevalence of HIV-associated dementia, NCI persists at a significant rate. Adjuvant stimulating or neuroprotective pharmacological agents have shown some potential benefits. Despite promising outcomes, studies on cognitive neurorehabilitation of HIV-related NCI remain sparse and limited in terms of methodological aspects. The access to cognitive neurorehabilitation is also restricted, in particular at the global scale. Novel technology bears a significant potential for restoring cognitive function in people with HIV, affording high degrees of standardization and personalization, along with opportunities for telerehabilitation. Entertaining serious video game environments with immersive graphics can further promote patient motivation, training adherence and impact on everyday life, as indicated by a growing body of evidence, including in seropositive children and older individuals in Africa. Upon validation of technology-assisted cognitive neurorehabilitation for HIV-related NCI in large-scale randomized controlled trials with state-of-the-art methodology, these approaches will promote socio-professional reintegration and quality of life of people with HIV.

约40%的艾滋病毒感染者存在神经认知障碍(NCI),并严重影响日常生活、抗逆转录病毒联合治疗(cART)的依从性和总体预期寿命。次优治疗方案、机会性感染、药物滥用和高度流行的精神合并症是导致HIV感染者NCI的原因。在这篇综述中,我们强调了通过药理方法和认知神经康复有效治疗hiv相关NCI的必要性,并讨论了该领域最近的随机对照试验。我们还讨论了神经病学、精神病学、神经心理学和传染病专家之间全面和跨学科的诊断工作的好处,有助于理清导致艾滋病毒感染者认知抱怨和缺陷的各种因素。虽然cART的出现有助于减缓艾滋病毒感染者认知缺陷的进展,并降低艾滋病毒相关痴呆的患病率,但NCI仍以显著的速度持续存在。辅助刺激或神经保护药物已显示出一些潜在的益处。尽管有很好的结果,关于hiv相关NCI的认知神经康复的研究在方法学方面仍然稀少和有限。认知神经康复的途径也受到限制,特别是在全球范围内。新技术在恢复艾滋病毒感染者的认知功能方面具有巨大的潜力,提供高度的标准化和个性化,以及远程康复的机会。越来越多的证据表明,具有沉浸式图形的严肃视频游戏环境可以进一步提高患者的积极性,训练依从性和对日常生活的影响,包括在非洲的血清阳性儿童和老年人中。在大规模随机对照试验中,采用最先进的方法验证了技术辅助认知神经康复治疗HIV相关NCI的有效性,这些方法将促进HIV感染者的社会职业重新融入和生活质量。
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引用次数: 0
Data management (and sharing) in neuroscience: balancing possible, practical and perfect solutions. 神经科学中的数据管理(和共享):平衡可能的、实用的和完美的解决方案。
IF 4.1 Q1 CLINICAL NEUROLOGY Pub Date : 2024-12-24 eCollection Date: 2025-01-01 DOI: 10.1093/braincomms/fcae450
Tara L Spires-Jones

Our editor discusses re-organizing her lab's data storage to facilitate sharing and archiving data. She also advertises the 'Brain Communications' early career researcher paper prize for the first author of a paper published in the journal in 2024-please send nominations!

我们的编辑讨论了重新组织她的实验室的数据存储,以促进共享和归档数据。她还为2024年在该杂志上发表论文的第一作者提供了“大脑通讯”早期职业研究论文奖——请发送提名!
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引用次数: 0
Predicting incident dementia in community-dwelling older adults using primary and secondary care data from electronic health records. 利用来自电子健康记录的初级和二级保健数据预测社区居住老年人痴呆的发生率。
IF 4.1 Q1 CLINICAL NEUROLOGY Pub Date : 2024-12-24 eCollection Date: 2025-01-01 DOI: 10.1093/braincomms/fcae469
Konstantin Georgiev, Yiqing Wang, Andrew Conkie, Annie Sinclair, Vyron Christodoulou, Saleh Seyedzadeh, Malcolm Price, Ann Wales, Nicholas L Mills, Susan D Shenkin, Joanne McPeake, Jacques D Fleuriot, Atul Anand

Predicting risk of future dementia is essential for primary prevention strategies, particularly in the era of novel immunotherapies. However, few studies have developed population-level prediction models using existing routine healthcare data. In this longitudinal retrospective cohort study, we predicted incident dementia using primary and secondary care health records at 5, 10 and 13 years in 144 113 Scottish older adults who were dementia-free prior to 1st April 2009. Gradient-boosting (XGBoost) prediction models were trained on two feature subsets: data-driven (using all 171 extracted variables) and clinically supervised (22 curated variables). We used a random-stratified internal validation set to rank top predictors in each model, assessing performance stratified by age and socioeconomic deprivation. Predictions were stratified into 10 equally sized risk deciles and ranked by response rate. Over 13 years of follow-up, 11 143 (8%) patients developed dementia. The data-driven models achieved marginally better precision-recall area-under-the-curve scores of 0.18, 0.26 and 0.30 compared to clinically supervised models with scores of 0.17, 0.27 and 0.29 for incident dementia at 5, 10 and 13 years, respectively. The clinically supervised model achieved comparable specificity 0.88 [95% confidence interval (CI) 0.87-0.88] and sensitivity (0.55, 95% CI 0.53-0.57) to the data-driven model for prediction at 13 years. The most important model features were age, deprivation and frailty, measured by a modified electronic frailty index excluding known cognitive deficits. Model precision was consistent across socioeconomic deprivation quintiles but lower in younger-onset (<70 years) dementia cases. At 13 years, dementia was diagnosed in 32% of the population classified as highest risk with 40% of individuals in this group below the age of 80. Personalized estimates of future dementia risk from routinely collected healthcare data could influence risk factor modification and help to target brain imaging and novel immunotherapies in selected individuals with pre-symptomatic disease.

预测未来痴呆的风险对于初级预防策略至关重要,特别是在新的免疫疗法时代。然而,很少有研究利用现有的常规医疗保健数据建立人口水平的预测模型。在这项纵向回顾性队列研究中,我们对144113名在2009年4月1日前无痴呆的苏格兰老年人在5年、10年和13年的初级和二级保健健康记录进行了预测。梯度增强(XGBoost)预测模型在两个特征子集上进行训练:数据驱动(使用所有171个提取的变量)和临床监督(22个管理变量)。我们使用随机分层的内部验证集对每个模型中的顶级预测因子进行排名,评估按年龄和社会经济剥夺分层的表现。预测结果被分成10个同等大小的风险十分位数,并按响应率进行排名。在13年的随访中,1143名(8%)患者发展为痴呆。与临床监督模型相比,数据驱动模型在5年、10年和13年的痴呆发生率的精确召回率得分分别为0.18、0.26和0.30,略高于临床监督模型的0.17、0.27和0.29。临床监督模型的特异性为0.88[95%可信区间(CI) 0.87-0.88],敏感性为0.55,95% CI 0.53-0.57),与数据驱动模型相比,13年预测的特异性为0.88[95%可信区间(CI) 0.87-0.88]。最重要的模型特征是年龄,剥夺和脆弱,通过修改的电子脆弱指数来衡量,不包括已知的认知缺陷。模型精度在社会经济剥夺五分之一中是一致的,但在年轻发病(
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引用次数: 0
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Brain communications
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