BMC Neurology最新文献

{"title":"Factors associated with dementia risk reduction lifestyle in mild cognitive impairment: a cross-sectional study of individuals and their family caregivers.","authors":"Hong Chen, Yongmei Deng, Xuan Li, Aicong Ding, Jiamei Wang, Ai Sun, Houmian Tu, Yuchen Qiao","doi":"10.1186/s12883-025-04183-8","DOIUrl":"https://doi.org/10.1186/s12883-025-04183-8","url":null,"abstract":"<p><strong>Objective: </strong>A healthy lifestyle has been shown to mitigate cognitive decline in patients with mild cognitive impairment, with family caregivers playing a pivotal role in the patients' lifestyle management. Exploring the level of dementia risk reduction lifestyle and the influencing factors at both the patient and caregiver levels in patients with mild cognitive impairment is crucial for identifying strategies to improve patients' lifestyles and delay disease progression.</p><p><strong>Methods: </strong>Using a convenience sampling method, 302 patients with mild cognitive impairment and their family caregivers admitted to the neurology departments of four tertiary care hospitals in China, from December 2024 to February 2025 were recruited and surveyed using a general information questionnaire, the Dementia Risk Reduction Lifestyle Scale (DRRLS), the Motivation to Change Lifestyle and Health Behaviors for Dementia Risk Reduction scale (MCLHB-DRR), the Perceived Social Support Scale (PSSS), and the Mutuality Scale (MS). Multiple linear regression was used to analyze the factors influencing the dementia risk reduction lifestyle of patients.</p><p><strong>Results: </strong>DRRLS score of 83.61 ± 16.13, multiple linear regression showed that the patient's monthly individual income, the presence of chronic disease, health beliefs, and social support were independent influences on their dementia risk reduction lifestyle. Furthermore, the lifestyle and mutuality of family caregivers were also independent influences on dementia risk reduction lifestyle in patients. The final model explained 75.5% of the variance in the lifestyle.</p><p><strong>Conclusions: </strong>Patients with mild cognitive impairment have a general level of dementia risk reduction lifestyle. The characteristics of both patients and caregivers collectively influence the patients' lifestyle. Healthcare providers should conduct early dyadic assessments and develop targeted dyadic intervention strategies based on influencing factors to improve patients' lifestyles and help them delay disease progression.</p>","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":"25 1","pages":"169"},"PeriodicalIF":2.2,"publicationDate":"2025-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12004845/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143974011","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":"Managing non-motor symptoms of Parkinson disease in China: clinical perspectives.","authors":"Jing Chen, Xiaotong Feng, Danhua Zhao, Baoyu Chen, Chaobo Bai, Qi Wang, Yuan Li, Junyi Chen, Xintong Guo, Jinjin Wang, Lin Zhang, Junliang Yuan","doi":"10.1186/s12883-025-04175-8","DOIUrl":"https://doi.org/10.1186/s12883-025-04175-8","url":null,"abstract":"<p><strong>Background: </strong>Parkinson's disease (PD) is a complex neurodegenerative disorder with both motor and non-motor symptoms (NMS), the latter having a profound impact on patients' quality of life (QoL). Increased recognition of NMS underscores the need for comprehensive approaches. The study aimed to evaluate healthcare professionals' awareness and management practices of NMS in PD in China.</p><p><strong>Methods: </strong>A nationwide online survey was conducted among 913 neurologists and psychiatrists from July to October 2023. The questionnaire comprised 65 closed-ended questions addressing basic demographics, awareness, assessment, and treatment strategies for NMS in PD. Chi-square tests were used to analyze differences between the two professional groups.</p><p><strong>Results: </strong>While 95.4% of respondents acknowledged the negative impact of NMS on PD patients' QoL, only 71.0% of neurologists regularly focused on NMS. Approximately half of the NMS were inadequately addressed, with attention to NMS often beginning in the middle to late stages of PD. Significant gaps were identified in awareness and treatment, particularly in managing depression/anxiety, cognitive impairment, and psychotic symptoms. Movement disorder specialists demonstrated higher levels of awareness and management proficiency for NMS.</p><p><strong>Conclusions: </strong>The study highlights critical gaps in NMS management for PD patients in China, underscoring the need for improved early recognition and appropriate intervention.</p>","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":"25 1","pages":"168"},"PeriodicalIF":2.2,"publicationDate":"2025-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12004545/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143972757","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":"Miller-Fisher syndrome subtype with isolated bilateral mydriasis: a pediatric case report.","authors":"Fengqi Yang, Zhu Tian, Yanhong Lu, Yang Li, Kai Liu","doi":"10.1186/s12883-025-04180-x","DOIUrl":"https://doi.org/10.1186/s12883-025-04180-x","url":null,"abstract":"<p><strong>Background: </strong>Miller-Fisher Syndrome (MFS), a distinct subtype of Guillain-Barré Syndrome (GBS), accounts for 5% of GBS cases and classically manifests with the triad of ophthalmoplegia, ataxia, and areflexia. Isolated bilateral mydriasis as the sole presenting feature is exceptionally rare, particularly in pediatric populations. While pupillary abnormalities have been documented in adult MFS cases, their diagnostic significance and management in children remain poorly characterized. We report a novel pediatric case of a 7-year-old girl presenting with 7 days of unexplained bilateral painless mydriasis unresponsive to light accommodation. Initial symptomatic management targeting potential toxic or neuropathic etiologies proved ineffective. Recognition of this atypical presentation prompted serological evaluation for autoimmune neuropathy markers, which demonstrated positivity for GQ1b IgM, GQ1b IgG, and GT1a IgG antibodies, confirming MFS diagnosis. Rapid clinical improvement followed intravenous immunoglobulin (IVIG) therapy. This case highlights the diagnostic challenges posed by incomplete or atypical MFS manifestations and underscores the necessity of early antibody testing in unexplained autonomic or neurological symptoms.</p><p><strong>Conclusion: </strong>This report expands the phenotypic spectrum of pediatric MFS by demonstrating isolated bilateral mydriasis as a potential initial manifestation, clinicians evaluating pupillary dilation should consider MFS in differential diagnoses. Future studies should continue to explore the pathophysiological link between anti-GQ1b antibodies and isolated autonomic dysfunction in pediatric MFS.</p>","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":"25 1","pages":"166"},"PeriodicalIF":2.2,"publicationDate":"2025-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12004657/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143962909","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":"Knowledge, awareness, attitudes, and practices toward Parkinson's disease among the general population in Saudi Arabia.","authors":"Salahuddin Khan, Meshal Alzakari, Faisal Alzkari, Renad Alsuhaibani, Alanoud Alabdulkarim, Amjad Alghanmi, Muhammad Umer Abdul Moiz, Arwa Huda, Amra Salahuddin, Ahmed Althobaiti","doi":"10.1186/s12883-025-04178-5","DOIUrl":"https://doi.org/10.1186/s12883-025-04178-5","url":null,"abstract":"<p><strong>Background: </strong>Parkinson's disease is a progressive disease that causes damage to parts of the brain, especially the substantia nigra. It is the most common motor brain condition.</p><p><strong>Objective: </strong>To investigate the knowledge, awareness, attitudes, and practices toward Parkinson's disease among the general population in Saudi Arabia.</p><p><strong>Methods: </strong>This cross-sectional study was conducted in Saudi Arabia from July 20 to November 20, 2024, targeting adults aged 18 years and older. Participants (n = 385) were randomly selected via social media platforms, using a bilingual (Arabic and English) online questionnaire. The survey included demographics, knowledge, awareness, attitudes, and practices. Data was analyzed using SPSS (version 28), with ethical approval obtained.</p><p><strong>Results: </strong>A total of 330 participants were surveyed, mostly young (292, 88.5% aged 18-24), female (269, 81.5%), and students (281, 85.2%). Nearly half (162, 49.1%) had heard of PD, but only 81 (24.5%) showed good knowledge, with misconceptions about causes and treatment. Commonly recognized symptoms included hand tremors (292, 88.5%) and poor balance (210, 63.6%), while awareness of non-motor symptoms was low. Most participants (319, 96.7%) supported public education, and 310 (93.9%) recommended social support for PD patients.</p><p><strong>Conclusion: </strong>This study emphasizes the lack of public knowledge and awareness regarding Parkinson's disease, its symptoms, and its causes in Saudi Arabia. The results highlight the need for educational efforts to improve understanding and address misconceptions.</p><p><strong>Categories: </strong>Neuroscience.</p>","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":"25 1","pages":"167"},"PeriodicalIF":2.2,"publicationDate":"2025-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12004649/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143974342","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":"Causal relationship between Parkinson's disease and gastric cancer: a Mendelian randomization study.","authors":"Jiayu Liu, Jiafeng Liu, Lanjun Li, Wenju Li, Ziyang Jiang, Gang Yin, Yunling Zhang, Yuan Sun","doi":"10.1186/s12883-025-04184-7","DOIUrl":"https://doi.org/10.1186/s12883-025-04184-7","url":null,"abstract":"<p><strong>Background: </strong>Age-related diseases, including Parkinson's disease and gastric cancer, substantially affect the global aging population. Previous observational research has suggested a potential association between Parkinson's disease and gastric cancer; however, findings regarding this aspect have been inconsistent. In the present study, we used data from genome-wide association studies to infer a causal relationship between Parkinson's disease and gastric cancer based on genetic variations.</p><p><strong>Methods: </strong>We used the two-sample Mendelian randomization method to analyze data from the genome-wide association study catalog, including 482,730 and 476,116 patients with Parkinson's disease and gastric cancer, respectively. Inverse-variance weighting was used as the primary Mendelian randomization analysis. We conducted sensitivity analyses to evaluate heterogeneity and pleiotropy, followed by two-step Mendelian randomization to ascertain the latent mediator of the relationship between Parkinson's disease and gastric cancer.</p><p><strong>Results: </strong>Our results suggested a causal negative relationship between Parkinson's disease and gastric cancer. Heterogeneity and pleiotropy analyses confirmed the robustness of the inverse-variance weighting results. Furthermore, P2X6 was identified as a key factor mediating this negative causal relationship.</p><p><strong>Conclusions: </strong>Patients with Parkinson's disease may have a lower risk of developing gastric cancer, with P2X6 serving as a significant mediating variable. These novel insights can aid the development of potential therapeutic targets for patients with Parkinson's disease or gastric cancer.</p>","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":"25 1","pages":"163"},"PeriodicalIF":2.2,"publicationDate":"2025-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12001501/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143981084","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 hypoperfusion volume has a strong predictive value for hemorrhagic transformation in acute ischemic stroke patients with anterior circulation occlusion after endovascular thrombectomy.","authors":"Danxia Chen, Bingdong Xu, Tongguo Wei, Qinhui Zhu, Yu Zhong, Yusheng Zhang","doi":"10.1186/s12883-025-04186-5","DOIUrl":"https://doi.org/10.1186/s12883-025-04186-5","url":null,"abstract":"<p><strong>Objective: </strong>It remains unclear whether hypoperfusion volume elevates the risk of hemorrhagic transformation (HT) after endovascular thrombectomy (EVT) in patients with acute ischemic stroke (AIS). This study aims to investigate the association between hypoperfusion volume and HT after EVT.</p><p><strong>Materials and methods: </strong>We retrospectively recruited AIS patients with anterior circulation occlusion after receiving EVT from January 2021 to May 2024. The pre-EVT hypoperfusion volume was assessed using computed tomography perfusion, with a hypoperfusion area defined as time-to-maximum > 6s. Multivariable analysis determined whether the hypoperfusion volume served as an independent predictor of symptomatic intracerebral hemorrhage (sICH) or intracerebral hemorrhage (ICH), and its predictive value was evaluated using receiver operating characteristic (ROC) curves.</p><p><strong>Results: </strong>A total of 115 patients were analyzed, with 55 (47.8%) having ICH and 16 (13.9%) experiencing sICH. The median age was 67, and 28.6% were female. The median core infarct volume was 4.3 ml, and the median hypoperfusion volume was 112.8 ml. After adjusting for potential confounding factors, the hypoperfusion volume remained independently correlated with sICH (OR = 1.008, 95% CI = 1.001-1.015, P = 0.018) and ICH (OR = 1.006, 95% CI = 1.001-1.012, P = 0.033). ROC curve analysis demonstrated that the hypoperfusion volume effectively predicted sICH [(area under the curve (AUC) = 0.702] or ICH (AUC = 0.643).</p><p><strong>Conclusion: </strong>The hypoperfusion volume has a strong predictive value for sICH and ICH in AIS patients with anterior circulation occlusion after EVT. This underscores the necessity of assessing the hypoperfusion volume before EVT, particularly for patients with smaller core infarct volumes in AIS.</p>","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":"25 1","pages":"164"},"PeriodicalIF":2.2,"publicationDate":"2025-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12001571/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144062103","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":"Polyneuritis cranialis combined with Horner's syndrome: a rare variant of Guillain Barré syndrome.","authors":"Xiangtao Nie, Wei He, Wenjing Qi, Yongbo Ma, Geke Zhu, Lei Hao, Xiuming Guo","doi":"10.1186/s12883-025-04169-6","DOIUrl":"https://doi.org/10.1186/s12883-025-04169-6","url":null,"abstract":"<p><strong>Background: </strong>Polyneuritis cranialis (PNC), a rare variant of Guillain-Barré syndrome (GBS), is usually characterized by ocular and pharyngeal weakness without obvious numbness or weakness of the limbs or ataxia. Horner's syndrome is extremely rare in patients with PNC. Here, we describe a case of GBS presenting with acute PNC and unilateral Horner syndrome.</p><p><strong>Case presentation: </strong>A 53-year-old male presented with headache, abducent paresis, peripheral-type facial palsy, bulbar type dysarthria, decreased gag reflex and tongue palsy. Neurological examination showed Cranial Nerve V, VI, VII, IX, X and XII were affected, and Horner's syndrome was observed. Cerebrospinal fluid analysis showed albuminocytologic dissociation. Sensorimotor conduction velocity and needle electromyography of limbs were normal. Magnetic resonance imaging of brain was normal. Finally, the patient was diagnosed as PNC combined with Horner's syndrome. The patient received plasma exchange and intravenous immunoglobulin, which relieved the symptoms rapidly.</p><p><strong>Conclusion: </strong>GBS presenting only as Horner syndrome and PNC is a challenge for etiological diagnosis. Clinicians need to know enough to distinguish GBS and its variants from other potential similar diseases.</p>","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":"25 1","pages":"162"},"PeriodicalIF":2.2,"publicationDate":"2025-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12001671/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143975914","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":"An integrated bioinformatics and machine learning approach to identifying biomarkers connecting parkinson's disease with purine metabolism-related genes.","authors":"Yao Wang, Dongchuan Wu, Man Zheng, Tiantian Yang","doi":"10.1186/s12883-025-04167-8","DOIUrl":"https://doi.org/10.1186/s12883-025-04167-8","url":null,"abstract":"<p><strong>Background: </strong>Parkinson's disease (PD), a prevalent neurodegenerative disorder in the aging population, poses significant challenges in unraveling its pathogenesis and progression. A key area of investigation is the disruption of oncological metabolic networks in PD, where diseased cells display distinct metabolic profiles compared to healthy counterparts. Of particular interest are Purine Metabolism Genes (PMGs), which play a pivotal role in nucleic acid synthesis.</p><p><strong>Methods: </strong>In this study, bioinformatics analyses were employed to identify and validate PMGs associated with PD. A set of 20 candidate PMGs underwent differential expression analysis. GSEA and GSVA were conducted to explore the biological roles and pathways of these PMGs. Lasso regression and SVM-RFE methods were applied to identify hub genes and assess the diagnostic efficacy of the nine PMGs in distinguishing PD. The correlation between these hub PMGs and clinical characteristics was also explored. Validation of the expression levels of the nine identified PMGs was performed using the GSE6613 and GSE7621 datasets.</p><p><strong>Results: </strong>The study identified nine PMGs related to PD: NME7, PKM, RRM2, POLR3 C, POLA1, PDE6 C, PDE9 A, PDE11 A, and AMPD1. Biological function analysis highlighted their involvement in processes like neutrophil activation and immune response. The diagnostic potential of these nine PMGs in differentiating PD was found to be substantial.</p><p><strong>Conclusions: </strong>This investigation successfully identified nine PMGs associated with PD, providing valuable insights into potential novel biomarkers for this condition. These findings contribute to a deeper understanding of PD's pathogenesis and may aid in monitoring its progression, offering a new perspective in the study of neurodegenerative diseases.</p>","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":"25 1","pages":"161"},"PeriodicalIF":2.2,"publicationDate":"2025-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12001721/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143980705","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":"Risk factors of stroke-associated pneumonia in patients with acute ischemic stroke treated by endovascular thrombectomy.","authors":"Kangyue Lin, Xiaoqing Deng, Yumei Xiao, Zhiyong Yang, Zhiyi He, Xiangjun Li, Wenwen Cheng","doi":"10.1186/s12883-025-04182-9","DOIUrl":"https://doi.org/10.1186/s12883-025-04182-9","url":null,"abstract":"<p><strong>Background: </strong>Although there are a variety of risk factors and predictive models for stroke-associated pneumonia (SAP) in patients with acute ischemic stroke (AIS), the risk factors and predictive value for SAP in patients with AIS treated by endovascular thrombectomy (EVT) remain unclear. This study aimed to investigate the occurrence of SAP in acute ischemic stroke patients treated with EVT and identify independent predictors of SAP.</p><p><strong>Methods: </strong>We enrolled patients with acute ischemic stroke who underwent endovascular thrombectomy (EVT) at the stroke center of Maoming People's Hospital between January 2021 and December 2023. The patients were categorized into the SAP group and Non-SAP group. Univariate analysis was performed to examine the correlation between each potential risk factor and SAP. Multivariate logistic regression analysis and receiver operating characteristic curve (ROC) were applied to identify independent predictors of SAP and evaluate their predictive value, respectively.</p><p><strong>Results: </strong>A total of 233 participants were included in this study. Among them, 131 (56.22%) patients were identified with SAP. The univariate analysis showed significant differences in the following variables between groups: admission National Institute of Health Stroke Scale score (NIHSS) (P = 0.005), procedural time (P = 0.000), dysphagia (P = 0.004), white blood cell (WBC) (P = 0.044), neutrophils (P = 0.019), and neutrophil-lymphocyte ratio (NLR) (P = 0.002). The multivariable logistic analysis identified the following independent predictors of SAP: admission NIHSS score [OR = 1.078, 95% CI = 1.020-1.140, P = 0.008], procedural time [OR = 1.023, 95% CI = 1.014-1.032, P = 0.000], NLR [OR = 1.152, 95% CI = 1.005-1.320, P = 0.042], and dysphagia [OR = 0.340, 95% CI = 0.151-0.767, P = 0.009]. Furthermore, the receiver operating characteristic (ROC) curve analysis demonstrated that procedural time had the best predictive performance for SAP in AIS patients undergoing EVT.</p><p><strong>Conclusion: </strong>Admission NIHSS score, procedural time, NLR, and dysphagia were associated with SAP in patients with AIS treated with EVT and can be an independent predictor for SAP.</p>","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":"25 1","pages":"165"},"PeriodicalIF":2.2,"publicationDate":"2025-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12004848/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143974885","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":"Investigating the genetic association of mitochondrial DNA copy number with neurodegenerative diseases.","authors":"Huan Xia, Zi-Hao Wang, Xiao-Bei Wang, Mei-Rong Gao, Sen Jiang, Xin-Yu Du, Xin-Ling Yang","doi":"10.1186/s12883-025-04176-7","DOIUrl":"https://doi.org/10.1186/s12883-025-04176-7","url":null,"abstract":"<p><strong>Objective: </strong>This study aims to investigate the causal relationship between Mitochondrial DNA (mtDNA) copy number and several common neurodegenerative diseases (NDs).</p><p><strong>Methods: </strong>We conducted a bidirectional two-sample Mendelian randomization (MR) analysis using data from genome-wide association studies (GWAS) as instrumental variables (IVs). After screening for relevance and potential confounders, we estimated the association between mtDNA copy number and NDs, including Alzheimer's disease (AD), Parkinson's disease (PD), Amyotrophic lateral sclerosis (ALS), and Multiple sclerosis (MS). Additionally, we validated our findings using GWAS data on mtDNA copy number from Longchamps et al., sourced from the Genetics Epidemiology Consortium and the UK Biobank (UKB) aging study cohort.</p><p><strong>Results: </strong>A GWAS analysis of 395,718 UKB participants found no significant association between mtDNA copy number and the risk of NDs, including AD (OR = 0.956, P = 0.708), PD (OR = 1.223, P = 0.179), ALS (OR = 0.972, P = 0.374), and MS (OR = 0.932, P = 0.789). Similarly, reverse MR analysis revealed no significant relationship between genetic predictions of NDs and mtDNA copy number: AD (OR = 0.987, P = 0.062), PD (OR = 0.997, P = 0.514), ALS (OR = 0.974, P = 0.706), and MS (OR = 1.003, P = 0.181).</p><p><strong>Conclusion: </strong>Although mitochondrial dysfunction is implicated in the pathogenesis of NDs, no clear evidence supports a causal role for mtDNA copy number. The relationship between mtDNA copy number and NDs is likely mediated by more complex molecular regulatory mechanisms. Further research is required to elucidate these intricate interactions.</p>","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":"25 1","pages":"160"},"PeriodicalIF":2.2,"publicationDate":"2025-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12001617/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143963300","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}