Brain Sciences最新文献

{"title":"A Comprehensive Overview of Subacute Combined Degeneration: MRI Diagnostic Challenges and Treatment Pathways.","authors":"Caterina Bernetti, Laura Cea, Andrea Buoso, Federico Greco, Mariagrazia Rossi, Fabio Pilato, Rosalinda Calandrelli, Gianfranco Di Gennaro, Vincenzo Di Lazzaro, Bruno Beomonte Zobel, Carlo Augusto Mallio","doi":"10.3390/brainsci15090972","DOIUrl":"10.3390/brainsci15090972","url":null,"abstract":"<p><p>Subacute combined degeneration (SCD) is a neurological disorder primarily caused by vitamin B12 deficiency. This condition leads to progressive demyelination and axonal damage, predominantly affecting the dorsal and lateral columns of the spinal cord. This review provides a comprehensive overview of SCD, detailing its complex etiology, pathophysiology, and clinical presentation. We highlight the critical role of magnetic resonance imaging (MRI) in the diagnostic process, discussing both the characteristic spinal cord findings and the more subtle intracranial abnormalities. Furthermore, we address the diagnostic challenges presented by conditions that mimic SCD in MRI, such as multiple sclerosis (MS) and amyotrophic lateral sclerosis (ALS). We conclude by outlining current treatment pathways and identifying key areas for future research, including the use of advanced neuroimaging techniques and the potential for new therapeutic approaches. This updated synthesis aims to provide a clear framework for clinicians and researchers to better understand and manage SCD.</p>","PeriodicalId":9095,"journal":{"name":"Brain Sciences","volume":"15 9","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12468238/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145173424","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Application of Concomitant Transcranial Direct Current Stimulation (tDCS) and Cognitive Behavioral-Oriented Training (CBT) for Pragmatic Skills Improvement in Young Adults with Autism Spectrum Disorder (ASD): Preliminary Data from a Pilot Study.","authors":"Lucrezia Arturi, Chiara Scoppola, Assia Riccioni, Martina Siracusano, Luigi Iasevoli, Giulia Civetta, Gianfranco Spalletta, Valentina Fiori, Luigi Mazzone","doi":"10.3390/brainsci15090970","DOIUrl":"10.3390/brainsci15090970","url":null,"abstract":"<p><p><b>Objectives:</b> Individuals with Autism Spectrum Disorder (ASD) exhibit difficulties in the social use of language, regardless of age, cognitive abilities, and symptom severity. The left Broca's area and adjacent cortex are crucial for socio-pragmatic language, particularly in retrieving and integrating context-dependent words. Neuroimaging studies in ASD have shown hypoactivation of the Broca's area and an aberrant pattern of functional connectivity between language-related regions, suggesting their potential involvement in socio-communicative deficits. Given the potential of tDCS to modulate brain activity, its application targeting Broca's areas in addition to psychological intervention may represent a promising approach for enhancing socio-communicative skills in ASD. Thus, this study aims to investigate the effect of concomitant anodal tDCS and cognitive behavioral-oriented training (CBT) on pragmatic and communicative skills in young adults with ASD. <b>Methods:</b> A sample of 10 ASD individuals (18-25 years) underwent treatment with both active and sham tDCS targeting the left Broca's area during concomitant CBT. Each condition was delivered for five consecutive days, and the order of the conditions was blindly randomized. <b>Results:</b> Active tDCS significantly improved global communicative and pragmatic abilities compared to sham. A negative correlation was observed between communicative skills improvement and Intelligence Quotient (IQ); no significant association was found between IQ and ASD symptoms' severity. <b>Conclusions:</b> Multisession tDCS targeting the left Broca's area, combined with CBT, may enhance social language in terms of both production and comprehension of non-literal meanings, supporting Broca's area as a central neural hub for social language.</p>","PeriodicalId":9095,"journal":{"name":"Brain Sciences","volume":"15 9","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12468920/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145173644","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Association Between Schizophrenia and Cardiovascular Diseases: A Retrospective Cohort Study of Primary Care Routine Data in Germany.","authors":"Ira Rodemer, Marcel Konrad, Mark Luedde, Karel Kostev","doi":"10.3390/brainsci15090974","DOIUrl":"10.3390/brainsci15090974","url":null,"abstract":"<p><p><b>Background</b>: This novel study addresses the question of whether schizophrenia is associated with an increased risk of cardiovascular diseases (CVDs) by controlling for metabolic syndrome-related conditions through propensity score matching, using real-world primary care data from Germany. <b>Methods</b>: This retrospective cohort study analyzed 12,527 patients aged 18 or older with schizophrenia from 1209 general practices (GPs) in Germany between 2005 and 2023 from the IQVIA Disease Analyzer database. Patients were matched 1:5 with individuals without schizophrenia based on sex, age, index year, consultation frequency, and chronic conditions. CVDs cumulative incidence was assessed using Kaplan-Meier curves and hazard ratios (HRs) were calculated using univariable Cox regression analysis. <b>Results</b>: Over a 10-year follow-up, schizophrenia was associated with a higher risk of heart failure (HR: 1.33, 95% CI: 1.20-1.48) and a lower risk of atrial fibrillation and flutter (HR: 0.77, 95% CI: 0.67-0.89). No significant associations were observed for acute myocardial infarction (HR: 0.97, 95% CI: 0.76-1.25), angina pectoris (HR: 0.78, 95% CI: 0.63-0.96), or chronic ischaemic heart disease (HR: 0.91, 95% CI: 0.82-1.02). Stratified analyses showed that schizophrenia was most strongly associated with heart failure in women aged 41-50 years (HR: 3.34, 95% CI: 2.11-5.31), followed by women aged 61-70 years (HR: 1.88, 95% CI: 1.45-2.44) and men aged 51-60 years (HR: 1.81, 95% CI: 1.34-2.45). <b>Conclusions</b>: This study highlights significant differences in the 10-year cumulative incidence of CVDs between individuals with and without schizophrenia. While patients with schizophrenia appear less likely to be diagnosed with milder or asymptomatic CVDs, they are at increased risk for severe outcomes. The study's findings underscore the need for sex-specific and symptom-sensitive public health strategies to improve early detection and prevention of CVDs in patients with schizophrenia.</p>","PeriodicalId":9095,"journal":{"name":"Brain Sciences","volume":"15 9","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12468226/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145173587","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Management and Outcomes of Multiple Unruptured Cerebral Aneurysms: A Descriptive Cohort Analysis.","authors":"Oday Atallah, Khadeja Alrefaie, Amr Badary","doi":"10.3390/brainsci15090973","DOIUrl":"10.3390/brainsci15090973","url":null,"abstract":"<p><p><b>Background:</b> Unruptured cerebral aneurysms pose a significant neurosurgical challenge due to their potential for rupture, which can lead to devastating subarachnoid hemorrhage. Advances in imaging have increased incidental detection of multiple unruptured aneurysms, necessitating tailored management strategies to balance rupture risk against treatment complications. <b>Methods:</b> We retrospectively analyzed 41 patients with 101 unruptured cerebral aneurysms, assessing demographics, aneurysm size and location, treatment modalities, and clinical outcomes. Descriptive statistics and correlation analyses examined associations between aneurysm characteristics, comorbidities, and post-treatment complications. <b>Results:</b> Most aneurysms were small (<10 mm, 48.5%), primarily located at the Middle Cerebral Artery Bifurcation (27.7%). Hypertension (56.1%) and smoking (53.7%) were prevalent risk factors. Clipping was the most common intervention (81.2%), with 41.4% of patients experiencing post-operative complications and 36.6% developing neurological deficits. <b>Conclusions:</b> This study underscores the difficulties in managing multiple unruptured cerebral aneurysms owing to diverse aneurysm characteristics and patient risk factors such as hypertension, hyperlipidaemia, and smoking. Clipping was the predominant intervention, with time customized for each individual case. Despite the occurrence of problems such as vasospasm and neurological difficulties, the majority of patients maintained functional independence. The results provide significant insights into the clinical attributes, therapeutic strategies, and outcomes for this patient cohort.</p>","PeriodicalId":9095,"journal":{"name":"Brain Sciences","volume":"15 9","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12467868/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145173595","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Brain Connectivity Estimation Network for the Identification of Dementia.","authors":"Ji Xi, Zhengwang Xia, Weiqi Zhang, Li Zhao","doi":"10.3390/brainsci15090975","DOIUrl":"10.3390/brainsci15090975","url":null,"abstract":"<p><p><b>Objectives</b>: The brain network serves as a reliable tool for diagnosing neurological disorders. However, the current modeling algorithms for brain networks often rely on several assumptions regarding the interactions between brain regions, which can be inaccurate. For instance, some studies assume linear relationships among brain regions. Additionally, some research suggests that certain brain regions do not significantly influence outcomes when assessing directional influence between paired regions. <b>Methods</b>: To address this issue, we introduced a novel method for modeling brain connectivity structures that estimates interactions among regions from a different perspective. More importantly, this method considers all the relevant brain regions during evaluation rather than isolating individual relationships. <b>Results</b>: To validate its effectiveness, we conducted extensive experiments using publicly available datasets. The proposed method achieved superior performance across all tasks. <b>Conclusions</b>: The results demonstrate that our method not only excels in identifying various brain disorders but also uncovers new biomarkers, providing fresh insights into neurological disorder research.</p>","PeriodicalId":9095,"journal":{"name":"Brain Sciences","volume":"15 9","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12467890/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145173748","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Transcranial Magnetic Stimulation as a Diagnostic Tool in Mild Cognitive Impairment: A Systematic Review.","authors":"Elisa Dognini, Simona Finazzi, Elena Campana, Rosa Manenti, Maria Cotelli, Barbara Borroni","doi":"10.3390/brainsci15090969","DOIUrl":"10.3390/brainsci15090969","url":null,"abstract":"<p><p><b>Background/Objective</b>: Mild cognitive impairment (MCI) often represents the prodromal stage of neurodegenerative dementia. Identification of Alzheimer disease (AD) and other dementias in the MCI stage is essential for early intervention. Transcranial magnetic stimulation (TMS) has gained interest as a non-invasive method to evaluate cortical excitability and neurotransmitter function. This systematic review aims to evaluate the diagnostic utility of TMS-derived indices, such as short-latency afferent inhibition (SAI), short-interval intracortical inhibition (SICI), intracortical facilitation (ICF), and long-interval intracortical inhibition (LICI) in MCI populations. <b>Methods</b>: Following PRISMA guidelines, 14 studies were selected, encompassing 476 MCI patients. Reported outcomes related to TMS measures (SAI, SICI, ICF, LICI) were reviewed across various MCI phenotypes. <b>Results</b>: Most studies report reduced SAI, a marker of cholinergic dysfunction, in amnestic MCI and MCI due to AD. Alterations in SICI and ICF, markers of GABAergic and glutamatergic dysfunction, were more variable, mainly observed in MCI of non-AD type. LICI showed no consistent changes. One study demonstrated increased clinicians' diagnostic confidence when TMS data were incorporated. <b>Conclusions</b>: TMS measures hold promise as a non-invasive tool for early and differential diagnosis of MCI. Further standardized and longitudinal research is needed to confirm its clinical applicability.</p>","PeriodicalId":9095,"journal":{"name":"Brain Sciences","volume":"15 9","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12468978/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145173588","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Elevated Mean Corpuscular Hemoglobin Concentration as a Potential Peripheral Biomarker of Parkinson's Disease: A Pilot Case-Control Study in a Mexican Population.","authors":"Ernesto Gerardo Miranda-Morales, Elizabeth Romero-Gutierrez, Francisco Xavier Castellanos-Juárez, Edna Madai Méndez-Hernández, Alma Cristina Salas-Leal, Osmel La Llave-León, Gerardo Quiñones-Canales, Ada Sandoval-Carrillo, José Manuel Salas-Pacheco, Oscar Arias-Carrión","doi":"10.3390/brainsci15090966","DOIUrl":"10.3390/brainsci15090966","url":null,"abstract":"<p><p><b>Background</b>: Alterations in peripheral red blood cell (RBC) indices have been proposed as potential biomarkers for Parkinson's disease (PD), but their diagnostic utility and relation to clinical features remain uncertain. <b>Methods</b>: We conducted a pilot case-control study involving 70 PD patients and 122 controls from two neurology centers in Mexico. Standardized hematology analyses provided RBC indices, and neuropsychiatric assessments included the Hamilton Depression Rating Scale (HAM-D) and Mini-Mental State Examination (MMSE). Associations between RBC indices and PD were tested using multivariable logistic regression adjusted for age, sex, and smoking. Diagnostic performance was evaluated by receiver operating characteristic (ROC) curve analysis. Subgroup analyses stratified PD patients by age at onset, disease duration, and Hoehn and Yahr (HY) stage. <b>Results</b>: PD patients exhibited significantly higher mean corpuscular hemoglobin (MCH) and mean corpuscular hemoglobin concentration (MCHC) than controls. Elevated MCHC was independently associated with PD (OR = 1.68, 95% CI 1.35-2.09; <i>p</i> < 0.001). Sex-stratified models confirmed consistent associations in women (OR = 1.57) and men (OR = 1.79). ROC analysis demonstrated fair diagnostic accuracy for MCHC (AUC 0.72, 95% CI 0.65-0.80; cutoff 33.9 g/dL, sensitivity 62.9%, specificity 72.1%). Sex-specific thresholds improved sensitivity in women (90.6%) and specificity in men (74.6%). Within the PD group, MCHC did not differ by HY stage or disease duration, and showed no correlation with UPDRS, HAM-D, or MMSE scores. Early-onset cases (<50 years) showed numerically higher MCHC, though numbers were limited. <b>Conclusions</b>: This pilot study confirms that an elevated MCHC is independently associated with PD, a finding consistent across both sexes and independent of disease severity. MCHC demonstrates fair diagnostic performance, supporting its potential as a low-cost, accessible biomarker. Larger longitudinal studies integrating RBC indices with inflammatory and iron-regulatory markers are warranted to establish their role in the diagnosis and differential diagnosis of PD. Elevated MCHC was associated with PD, and an MCHC-based index (cutoff 33.9 g/dL; AUC 0.72, sensitivity 62.9%, specificity 72.1%) showed potential as a simple diagnostic marker.</p>","PeriodicalId":9095,"journal":{"name":"Brain Sciences","volume":"15 9","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12468377/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145173663","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The First Shall Be First: Letter-Position Coding and Spatial Invariance in Two Cases of Attentional Dyslexia.","authors":"Jeremy J Tree, David R Playfoot","doi":"10.3390/brainsci15090967","DOIUrl":"10.3390/brainsci15090967","url":null,"abstract":"<p><p><b>Background/Objectives:</b> Previous research has demonstrated that the initial letters of a word likely play a <i>privileged role</i> in visual word recognition, such that reading and visual recognition errors reflecting changes in this position are much less likely. For example, prior case studies of attentional dyslexia reported that participants were most accurate at rejecting nonwords formed by transposing a word's <i>first two</i> letters (e.g., <i>WONER</i> from <i>OWNER</i>) compared to transpositions in later positions. The current study aimed to replicate and extend this finding in patients with posterior cortical atrophy (PCA), a neurodegenerative condition associated with visuospatial and attentional impairments. <b>Methods:</b> Two PCA patients completed lexical decision tasks involving five-letter real words and nonwords created either by transposing adjacent letters (in positions 1 + 2, 2 + 3, 3 + 4, or 4 + 5) or using matched nonword controls. To assess robustness, tasks were repeated across test-retest sessions. Stimuli were presented in both canonical horizontal and non-canonical vertical (marquee) formats. Accuracy, response bias, and sensitivity (d') were estimated, with 95% confidence intervals derived from a nonparametric bootstrap procedure. Within-case logistic regressions were also conducted to illustrate the findings. <b>Results:</b> Both patients showed significantly higher accuracy and lower response bias for 1 + 2 transposition nonwords relative to other positions. This early-letter advantage persisted across test-retest observations and was maintained when words were presented in the vertical format, suggesting <i>orientation-invariant</i> effects. The bootstrap and regression analyses provided convergent support for these results. <b>Conclusions:</b> The findings provide novel evidence in PCA that the encoding of early letter positions operates independently of visual orientation and persists despite attentional deficits. This supports models in which the initial letters serve as a key <i>anchor point</i> in orthographic processing, highlighting the privileged and resilient status of early letter encoding in visual word recognition.</p>","PeriodicalId":9095,"journal":{"name":"Brain Sciences","volume":"15 9","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12468498/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145173654","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Adherence to Non-Invasive Ventilation in Steinert Disease: Clinical and Psychological Insights.","authors":"Anna Annunziata, Francesca Simioli, Giorgio Emanuele Polistina, Anna Michela Gaeta, Maria Cardone, Camilla Di Somma, Raffaella Manzo, Antonella Marotta, Cecilia Calabrese, Giuseppe Fiorentino","doi":"10.3390/brainsci15090968","DOIUrl":"10.3390/brainsci15090968","url":null,"abstract":"<p><p><b>Introduction:</b> Myotonic dystrophies (DM) are progressive genetic disorders with multisystemic involvement, particularly affecting the muscular, respiratory, and neuropsychological systems. Myotonic dystrophy type 1 (DM1), or Steinert's disease, may lead to severe respiratory complications, including sleep-disordered breathing and hypercapnia, often requiring noninvasive ventilation to manage respiratory failure. However, adherence to NIV remains a major challenge, often influenced by cognitive and psychological factors such as apathy and depression. This study aims to investigate the presence of depression and SDB in patients with DM1 initiating NIV, and to evaluate factors influencing adherence to ventilatory support. <b>Materials and Methods:</b> We selected 13 adult patients (≥18 years) with diagnosis of Steinert's disease with respiratory impairment who needed to start respiratory support. Dysphagia was assessed in all patients at baseline by a videofluoroscopic swallow study. Beck's Depression Inventory II was administered for measuring the severity of depression. The Montreal Cognitive Assessment was used as a screening tool to detect signs of neurocognitive disorders. We evaluated adherence to NIV. <b>Results:</b> The study population presented with sleep-disordered breathing, as indicated by a median apnea-hypopnea index (AHI) of 24 events per hour (IQR: 14.2-34.5) and an oxygen desaturation index (ODI) of 25 events per hour (IQR: 18-33). Adherence to NIV was obtained in seven patients. No difference in baseline lung function was observed. Adherent subjects had moderate hypercapnia at baseline; pCO2 was 52 vs. 49 mmHg. Non-adherent patients showed a higher prevalence of depression with a median BDI-II score of 18 vs. 6 in adherent patients. The findings highlight that psychological factors, especially depression, play a crucial role in adherence to NIV. Interestingly, depression was not linked to initial respiratory measurements but showed a significant association with nocturnal oxygen desaturation. This suggests that relying solely on clinical and respiratory assessments may not be adequate to predict or improve treatment adherence. <b>Conclusions:</b> Incorporating psychological evaluations and addressing mental health issues, such as depression, are essential steps to enhance NIV compliance and overall DM1 patient outcomes. A multidisciplinary approach combining respiratory and psycho-emotional interventions is crucial for effective disease management.</p>","PeriodicalId":9095,"journal":{"name":"Brain Sciences","volume":"15 9","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12469135/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145173605","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"<i>DRD2</i> Ex8 rs6276 Polymorphism and NEO-FFI Personality Traits in Elite Athletes and Controls.","authors":"Remigiusz Recław, Milena Lachowicz, Jolanta Chmielowiec, Dariusz Larysz, Anna Grzywacz, Krzysztof Chmielowiec","doi":"10.3390/brainsci15090965","DOIUrl":"10.3390/brainsci15090965","url":null,"abstract":"<p><p><b>Background/Objectives:</b> Personality traits influence motivation, self-regulation, and adaptation in high-performance sports, and are partially modulated by dopaminergic genetic variability. This study aimed to examine the association between the <i>DRD2</i> Ex8 rs6276 polymorphism and NEO Five-Factor Inventory (NEO-FFI) personality traits in elite athletes and non-athlete controls. <b>Methods:</b> A total of 323 participants were included: 141 athletes and 182 controls. Genomic DNA was isolated from venous blood, and <i>DRD2</i> Ex8 rs6276 genotypes (A/A, A/G, G/G) were determined using real-time PCR with melting-curve analysis. Personality traits were assessed using the NEO-FFI, and group differences as well as genotype × group interactions were evaluated using multivariate analyses and non-parametric tests. <b>Results:</b> Athletes scored significantly higher on Conscientiousness than controls. A genotype × group interaction was observed for Extraversion, and the main effect of the genotype was found to be Agreeableness. Athletes with the A/A genotype exhibited the highest Extraversion scores, whereas those with the G/G genotype demonstrated higher Agreeableness than other genotypes. <b>Conclusions:</b> These findings indicate that dopaminergic variation contributes to individual differences in social and motivational traits, which may support athletic engagement and adaptation to high-demand environments. The results should be interpreted with caution due to the moderate sample size, deviation from the Hardy-Weinberg equilibrium in the athlete group, and reliance on a single personality assessment tool.</p>","PeriodicalId":9095,"journal":{"name":"Brain Sciences","volume":"15 9","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12467987/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145173329","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}