Cerebral cortex最新文献_第2页

Investigating the genetic and causal relationship between coffee/caffeine consumption and stroke: genome-wide association and bidirectional Mendelian randomization study. 研究咖啡/咖啡因摄入与中风之间的遗传和因果关系：全基因组关联和双向孟德尔随机化研究。

IF 2.9 2区医学

Cerebral cortex Pub Date : 2025-09-15 DOI: 10.1093/cercor/bhaf265

Xin-Xing Wang, Cheng-Yan Cao, Xing-Feng Wang, Xiang-Yang Wang, Hai-Bo Tong, Yi-Fan Liu

{"title":"Investigating the genetic and causal relationship between coffee/caffeine consumption and stroke: genome-wide association and bidirectional Mendelian randomization study.","authors":"Xin-Xing Wang, Cheng-Yan Cao, Xing-Feng Wang, Xiang-Yang Wang, Hai-Bo Tong, Yi-Fan Liu","doi":"10.1093/cercor/bhaf265","DOIUrl":"10.1093/cercor/bhaf265","url":null,"abstract":"Stroke is a major public health challenge worldwide; yet, the impact of habitual coffee and caffeine consumption on stroke risk remains unclear, with conflicting evidence suggesting both protective and harmful effects. In this study, genetic variants linked to coffee and caffeine consumption were identified from prior genome-wide meta-analyses and used as instrumental variables. Summary-level data for stroke, including ischemic and hemorrhagic subtypes, were obtained from genome-wide association meta-analyses involving 1,913,565, 1,020,314, and 567,056 participants, respectively. Bidirectional 2-sample Mendelian randomization analyses were performed to assess the causal relationships between coffee/caffeine intake and stroke. Novel genetic loci, key genes, and pathways identified in our genome-wide association studies meta-analysis validated the reliability of genome-wide association studies summary statistics as instrumental variables. Forward Mendelian randomization analyses revealed that genetically-predicted coffee and caffeine consumption was associated with a reduced risk of stroke, with pooled odds ratios for stroke-related traits of 0.927 (95% CI, 0.877-0.979; P = 0.007), 0.898 (95% CI, 0.794-1.015; P = 0.085), and 0.954 (95% CI, 0.646-1.408; P = 0.812) for coffee consumption, and 0.831 (95% CI, 0.711-0.972; P = 0.0202), 0.897 (95% CI, 0.799-1.007; P = 0.0656), and 0.924 (95% CI, 0.834-1.023; P = 0.1275) for caffeine consumption. Reverse Mendelian randomization analyses found no evidence of a causal effect of stroke on coffee or caffeine consumption, and no significant heterogeneity or pleiotropy was detected. These findings suggest a potential protective role of coffee and caffeine against stroke and highlight the importance of integrating dietary habits and genetic determinants into future stroke prevention strategies.","PeriodicalId":9715,"journal":{"name":"Cerebral cortex","volume":"35 9","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145124325","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Anterior cingulate and its role in enhancing gait training outcomes in persons with cerebral palsy. 前扣带及其在增强脑瘫患者步态训练结果中的作用。

IF 2.9 2区医学

Cerebral cortex Pub Date : 2025-09-15 DOI: 10.1093/cercor/bhaf267

Morgan T Busboom, Kimberley Scott, Brad Corr, Katie L Bemis, Liana S Chinen, Sarah E Baker, Yasra Arif, Tony W Wilson, Max J Kurz

{"title":"Anterior cingulate and its role in enhancing gait training outcomes in persons with cerebral palsy.","authors":"Morgan T Busboom, Kimberley Scott, Brad Corr, Katie L Bemis, Liana S Chinen, Sarah E Baker, Yasra Arif, Tony W Wilson, Max J Kurz","doi":"10.1093/cercor/bhaf267","DOIUrl":"10.1093/cercor/bhaf267","url":null,"abstract":"Persons with cerebral palsy (CP) exhibit diminished somatosensory cortical activity and this has been linked with the extent of their muscular performance and mobility impairments. However, the influence of physical therapy paradigms on such diminished cortical activity remains unclear. The current study evaluated the extent of mobility changes and somatosensory cortical activity in persons with CP (n = 28; Age = 21.57 ± 7.1 yr; Gross Motor Function Classification Score levels I-III) following 8 weeks of a gait training protocol that involved exploratory activities that were directed at enhancing the somatosensory experience through rich/novel movement. A paired-pulse somatosensory paradigm during magnetoencephalography was used to assess the cortical changes after undergoing the physical therapy protocol. Consistent with the literature, the group with CP had weaker somatosensory cortical responses compared to the neurotypical controls. While the participants with CP demonstrated clinically relevant mobility improvements, there were no changes in the somatosensory cortical activity. However, there was a prominent increase in neural activity within the anterior cingulate. This implies that the novel gait training protocol used here may drive beneficial improvements in the ability of persons with CP to monitor their motor errors, attend to the available sensory feedback, and discriminate different sensory intensities during gait.","PeriodicalId":9715,"journal":{"name":"Cerebral cortex","volume":"35 9","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12452282/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145124348","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Distinct psychological and neural constructs of patriotism and nationalism. 爱国主义和民族主义的不同心理和神经结构。

IF 2.9 2区医学

Cerebral cortex Pub Date : 2025-09-15 DOI: 10.1093/cercor/bhaf268

Guo Zheng, Shihui Han

{"title":"Distinct psychological and neural constructs of patriotism and nationalism.","authors":"Guo Zheng, Shihui Han","doi":"10.1093/cercor/bhaf268","DOIUrl":"https://doi.org/10.1093/cercor/bhaf268","url":null,"abstract":"Patriotism and nationalism as 2 types of attitudes have been used to interpret nation-related social behaviors, but whether they are mediated by distinct psychological and neural constructs remains unclear. We recorded rating scores and brain activities related to nationalism and patriotism statements that were dissected into affective (ie positive emotions pertaining to one's own country or negative emotions pertaining to other countries) and cognitive (ie beliefs of the excellence of one's own country or superiority of one's own country over other countries) dimensions. Principal component analyses of the rating scores showed that the affective and cognitive components of nationalism vs. patriotism are disjointed to a larger degree. Functional magnetic resonance imaging results revealed that, while the right middle temporal cortex responded differentially to the affective and cognitive components of patriotism, a more extensive neural network, including the medial prefrontal cortex, lateral/orbital frontal cortices, insula, and temporal-parietal junction, responded differentially to the 2 components of nationalism statements. Moreover, the left frontal response to the affective nationalism statements mediated the link between nationalism-related emotions and behavioral tendencies to help other countries. Our findings unravel distinct psychological and neural constructs of patriotism and nationalism that advance our understanding of nation-related decision-making and behaviors.","PeriodicalId":9715,"journal":{"name":"Cerebral cortex","volume":"35 9","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145184485","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The role of etiology in the identification of clinical markers of consciousness: comparing EEG alpha power, complexity, and spectral exponent. 病因学在鉴别意识临床标记物中的作用：比较脑电图功率、复杂性和频谱指数。

IF 2.9 2区医学

Cerebral cortex Pub Date : 2025-09-15 DOI: 10.1093/cercor/bhaf254

Charlotte Maschke, Laouen Belloli, Dragana Manasova, Jacobo D Sitt, Stefanie Blain-Moraes

{"title":"The role of etiology in the identification of clinical markers of consciousness: comparing EEG alpha power, complexity, and spectral exponent.","authors":"Charlotte Maschke, Laouen Belloli, Dragana Manasova, Jacobo D Sitt, Stefanie Blain-Moraes","doi":"10.1093/cercor/bhaf254","DOIUrl":"10.1093/cercor/bhaf254","url":null,"abstract":"In the search for EEG markers of human consciousness, alpha power has long been considered a reliable marker which is fundamental for the assessment of unresponsive patients from all etiologies. However, recent evidence questioned the role of alpha power as a marker of consciousness and proposed the spectral exponent and spatial gradient as more robust and generalizable clinical indexes. In this study, we analyzed a large-scale dataset of 303 unresponsive patients and investigated etiology-specific differences in clinical markers of level of consciousness, responsiveness and capacity to recover. We compare a set of candidate EEG makers: i) absolute, relative and flattened alpha power; ii) spatial ratios; iii) the spectral exponent; and iv) signal complexity. Our results support the claim that alpha power has higher diagnostic value for anoxic patients. Meanwhile, the spectral slope showed diagnostic value for non-anoxic patients only. Changes in relative power and signal complexity occurred alongside changes in the spectral slope. Grouping unresponsive patients from different etiologies together can confound or obscure the diagnostic value of different EEG markers of consciousness. Our study highlights the importance of analyzing different etiologies independently and emphasizes the need to develop clinical markers which better account for inter-individual and etiology-dependent differences.","PeriodicalId":9715,"journal":{"name":"Cerebral cortex","volume":"35 9","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12448740/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145091286","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Characteristics of hub regions in the superficial white matter. 浅表白质中枢区域的特征。

IF 2.9 2区医学

Cerebral cortex Pub Date : 2025-09-15 DOI: 10.1093/cercor/bhaf263

Riho Nakajima, Wataru Uchida, Kenichi Nakajima, Koji Kamagata, Kaito Takabayashi, Osamu Hori, Hiroshi Kawasaki, Noriyuki Ozaki, Harumichi Shinohara, Masashi Kinoshita, Shigeki Aoki, Mitsutoshi Nakada

{"title":"Characteristics of hub regions in the superficial white matter.","authors":"Riho Nakajima, Wataru Uchida, Kenichi Nakajima, Koji Kamagata, Kaito Takabayashi, Osamu Hori, Hiroshi Kawasaki, Noriyuki Ozaki, Harumichi Shinohara, Masashi Kinoshita, Shigeki Aoki, Mitsutoshi Nakada","doi":"10.1093/cercor/bhaf263","DOIUrl":"https://doi.org/10.1093/cercor/bhaf263","url":null,"abstract":"The superficial white matter (SWM) comprises short-range fibers that connect adjacent cortical regions; however, its structural connectivity remains poorly understood. In a previous dissection study, we identified anatomical \"crossings\" where superficial white matter fibers converge from multiple directions. Building on this, the present study investigated superficial white matter characteristics associated with these crossings using diffusion-weighted imaging data from 10 individuals in the Human Connectome Project. A total of 605 regions of interest (ROIs) were placed at presumed crossing locations in the dominant hemisphere. Superficial white matter fibers were categorized by tract length (short, medium, and long), and streamline distribution was analyzed. Short- and medium-length fibers showed predominantly intragyral connections, while long fibers exhibited more diverse intragyral connectivity. Graph theoretical analysis identified high-efficiency regions of interest, putative hub regions, which were mapped onto cytoarchitectonic structures from the Economo-Koskinas atlas and compared with myelin concentration. High-efficiency regions for short- and middle-length fibers were mainly in primary motor and sensory areas, particularly visual regions, corresponding to high myelin concentration and cytoarchitectonic areas 1 and 5. In contrast, high-efficiency regions for long fibers were distributed in the association cortex (area 3). These findings provide new insights into the structural organization of superficial white matter and its relationship to cortical architecture.","PeriodicalId":9715,"journal":{"name":"Cerebral cortex","volume":"35 9","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145147850","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Abnormally enhanced temporal correlations of alpha oscillations across multiple timescales in tinnitus patients. 耳鸣患者在多个时间尺度上α振荡的时间相关性异常增强。

IF 2.9 2区医学

Cerebral cortex Pub Date : 2025-09-15 DOI: 10.1093/cercor/bhaf252

Yun-Yi Qi, Jing-Yi Zhu, Ying Zhu, Shuo Huang, Cheng Luo, Ning Ma, Jing-Wu Sun, Xiao-Tao Guo

{"title":"Abnormally enhanced temporal correlations of alpha oscillations across multiple timescales in tinnitus patients.","authors":"Yun-Yi Qi, Jing-Yi Zhu, Ying Zhu, Shuo Huang, Cheng Luo, Ning Ma, Jing-Wu Sun, Xiao-Tao Guo","doi":"10.1093/cercor/bhaf252","DOIUrl":"10.1093/cercor/bhaf252","url":null,"abstract":"Tinnitus is a phantom auditory perception that occurs without an external stimulus. Increasing evidence suggests that it is associated with abnormal predictive coding, in which overly strong priors may give rise to hallucinatory perception, as proposed by the \"strong priors\" hypothesis. Neurodynamic analysis, by characterizing the temporal evolution of brain activity, can further test the \"strong priors\" hypothesis in tinnitus, specifically whether tinnitus patients' brain activity is more influenced by past activity. However, the neurodynamic characteristics of tinnitus remain poorly understood. Therefore, we examined long-range and short-range temporal correlations in resting-state Electroencephalography (EEG) signals from tinnitus patients and healthy controls. We applied detrended fluctuation analysis, lifetimes, and waiting times to assess temporal correlations across multiple time scales. Our results showed that tinnitus patients exhibited stronger temporal correlations in the alpha frequency band, accompanied by heightened long-range dependencies in higher frequency bands. These findings reveal an abnormally enhanced temporal structure across multiple timescales and frequency bands in tinnitus, potentially reflecting an excessive influence of global context on intrinsic information processing and providing support for the \"strong priors\" hypothesis.","PeriodicalId":9715,"journal":{"name":"Cerebral cortex","volume":"35 9","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12448742/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145091173","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Extrastriate activity reflects sensorimotor-induced bias in estimating number of visual humans. 脑外活动反映了在估计有视觉的人的数量时感觉运动引起的偏见。

IF 2.9 2区医学

Cerebral cortex Pub Date : 2025-09-15 DOI: 10.1093/cercor/bhaf270

Louis Albert, Bruno Herbelin, Fosco Bernasconi, Olaf Blanke

{"title":"Extrastriate activity reflects sensorimotor-induced bias in estimating number of visual humans.","authors":"Louis Albert, Bruno Herbelin, Fosco Bernasconi, Olaf Blanke","doi":"10.1093/cercor/bhaf270","DOIUrl":"10.1093/cercor/bhaf270","url":null,"abstract":"Humans and animals are able to rapidly, and with reasonable accuracy, estimate the number of objects in a visual scene. Visual-evoked potential studies have described a sequence of functionally distinct stages associated with numerosity perception. Recently, a specialized cognitive-perceptual system for the numerosity estimation for human stimuli (NEH), distinct from that for non-social stimuli, was revealed using virtual reality, revealing a stable NEH overestimation bias (ie perceiving more people than were shown). This bias was further increased when a social hallucination characterized by the false perception of another invisible person (presence hallucination) was induced robotically and repeatedly prior to NEH trials. However, little is known about the brain mechanisms of NEH and robot-induced presence hallucination. Here we combined virtual reality and robotically-induced presence hallucination with visual-evoked potentials to investigate the neural mechanisms and processing steps of NEH. We report that NEH induces numerosity-related components as observed for non-human numerosity stimuli and, critically that experimentally-induced presence hallucination selectively modulated the P2p component, whose amplitude correlated with NEH overestimation magnitude. This effect was localized in left extrastriate cortex, showing that robot-induced presence hallucination are integrated with NEH processing during the P2p time period and relying on social numerosity mechanisms in extrastriate cortex.","PeriodicalId":9715,"journal":{"name":"Cerebral cortex","volume":"35 9","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12481691/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145198443","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Tempo-dependent selective enhancement of neural responses at the beat frequency can be mimicked by both an oscillator and an evoked model. 在节拍频率下，神经反应的节奏依赖性选择性增强可以通过振荡器和诱发模型来模拟。

IF 2.9 2区医学

Cerebral cortex Pub Date : 2025-09-15 DOI: 10.1093/cercor/bhaf258

Atser Damsma, Mitchell de Roo, Keith Doelling, Pierre-Louis Bazin, Fleur L Bouwer

{"title":"Tempo-dependent selective enhancement of neural responses at the beat frequency can be mimicked by both an oscillator and an evoked model.","authors":"Atser Damsma, Mitchell de Roo, Keith Doelling, Pierre-Louis Bazin, Fleur L Bouwer","doi":"10.1093/cercor/bhaf258","DOIUrl":"10.1093/cercor/bhaf258","url":null,"abstract":"A crucial mechanism for the brain to make sense of the auditory environment is the synchronization of neural responses to external temporal regularities, such as a musical beat. It is debated whether this synchronization and the resulting beat percept reflect phase alignment of endogenous neural oscillations to the external regularity (\"entrainment\"), or evoked responses to the rhythmic stimulus (\"tracking\"). Here, we use the tempo-dependent properties of beat processing to differentiate between the two accounts. Participants listened to a repeating rhythmic pattern at different speeds. Behaviorally, they consistently tapped at the preferred beat rate (around 2 Hz) across tempi, shifting to higher metrical levels as tempo increased. We found a similar shift in EEG data, where the metrical level at which neural synchronization was strongest depended on tempo. This selective enhancement is consistent with entrainment accounts and could indeed be mimicked by an oscillator model. However, importantly, the results were also captured by a model simulating evoked responses. Together, our findings demonstrate that while neural responses to rhythm are selectively enhanced at the beat rate, this enhancement need not be taken as evidence for entrainment, but can also be explained by successive evoked responses.","PeriodicalId":9715,"journal":{"name":"Cerebral cortex","volume":"35 9","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12461700/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145136711","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Sex and age differences on how testosterone relates to brain activity during working memory among adolescents and young adults. 在青少年和年轻人的工作记忆中，睾丸激素与大脑活动的关系在性别和年龄上的差异。

IF 2.9 2区医学

Cerebral cortex Pub Date : 2025-08-01 DOI: 10.1093/cercor/bhaf218

Attakias T Mertens, Katrina Myers, Delaney Sherman, Cecile D Ladouceur, Gaelle E Doucet

{"title":"Sex and age differences on how testosterone relates to brain activity during working memory among adolescents and young adults.","authors":"Attakias T Mertens, Katrina Myers, Delaney Sherman, Cecile D Ladouceur, Gaelle E Doucet","doi":"10.1093/cercor/bhaf218","DOIUrl":"10.1093/cercor/bhaf218","url":null,"abstract":"Working memory is an important cognitive process that develops throughout early life. During adolescence, there is marked improvement in this process that is associated with structural and functional brain changes. These changes have been linked to age; however, endogenous testosterone is thought to regulate structural and functional changes in the brain during puberty, with differential influences across adolescence into early adulthood. Thus, testosterone may have a direct impact on brain activity that is modulated by age. The current study aimed to examine this using a working memory functional magnetic resonance imaging (fMRI) task in adolescents and young adults. Saliva samples collected prior to scanning were assayed for endogenous testosterone levels. One hundred and forty-five typically developing participants (74 female), aged 12-25 yr, completed a working memory fMRI task. Results showed that, for the most difficult versus the 0back conditions, younger female participants (≤19) only had more deactivation in the anterior cingulate cortex with higher level of testosterone. In contrast, male participants showed increased activation in the precentral gyrus with higher testosterone, regardless of age. These findings indicate sex differences in how endogenous testosterone relates to the activity of different brain regions recruited during working memory. Furthermore, these associations vary across typical adolescent development.","PeriodicalId":9715,"journal":{"name":"Cerebral cortex","volume":"35 8","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12342932/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144834137","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Subcortical shape alterations in children with Noonan syndrome spectrum: insights into genotype-phenotype associations. 努南综合征谱系儿童的皮质下形状改变：基因型-表型关联的见解。

IF 2.9 2区医学

Cerebral cortex Pub Date : 2025-08-01 DOI: 10.1093/cercor/bhaf217

Yaffa Serur, Chloe Alexa McGhee, Noam Avital, Odeya Russo, Mira Michelle Raman, Tamar Green

{"title":"Subcortical shape alterations in children with Noonan syndrome spectrum: insights into genotype-phenotype associations.","authors":"Yaffa Serur, Chloe Alexa McGhee, Noam Avital, Odeya Russo, Mira Michelle Raman, Tamar Green","doi":"10.1093/cercor/bhaf217","DOIUrl":"10.1093/cercor/bhaf217","url":null,"abstract":"Noonan syndrome is the most common RASopathy and is associated with high rates of neurodevelopmental disorders. Prior neuroimaging studies in children with Noonan syndrome have identified structural effects on subcortical regions, though most focus on volumetric differences, overlooking finer morphological changes. These studies also tend to examine common genetic variants, excluding rarer forms within the Noonan syndrome spectrum. Shape analysis offers a sensitive approach to detecting subtle alterations, and when applied across variants, may reveal distinct neuroanatomical signatures. We acquired anatomical magnetic resonance imaging scans from 104 children with Noonan syndrome spectrum (ages 5 to 17, mean = 10.0) and 80 age- and sex-matched typically developing children (ages 4 to 16, mean = 9.54). Our comprehensive analysis examined local thickness and surface dilation/contraction (Jacobian), including genetic variant-specific analyses. Noonan syndrome spectrum showed widespread subcortical alterations beyond volume reduction, including thinning and surface contraction in the putamen, pallidum, thalamus, and caudate, and expansion in the accumbens. Distinct regional effects were found for PTPN11, SOS1, and other Noonan syndrome spectrum-associated variants. These findings confirm subcortical volume reductions in several regions and highlight complex, region-specific shape alterations. Importantly, neuroanatomical patterns varied across genetic variants, suggesting distinct mechanisms of brain development. Understanding these variant-specific structural profiles may provide insights into genotype-based approaches and inform future precision medicine strategies.","PeriodicalId":9715,"journal":{"name":"Cerebral cortex","volume":"35 8","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12345204/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144834138","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0