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Effect of dual-task interference on upper extremity motor experience with Parkinson's disease motor effect of dual-task in Parkinson's disease. 双任务干扰对帕金森病患者上肢运动体验的影响
IF 2.2 3区 医学
BMC Neurology Pub Date : 2025-10-22 DOI: 10.1186/s12883-025-04462-4
Emre Şenocak, Seda Karaca, Adem Aktürk
{"title":"Effect of dual-task interference on upper extremity motor experience with Parkinson's disease motor effect of dual-task in Parkinson's disease.","authors":"Emre Şenocak, Seda Karaca, Adem Aktürk","doi":"10.1186/s12883-025-04462-4","DOIUrl":"https://doi.org/10.1186/s12883-025-04462-4","url":null,"abstract":"","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":"25 1","pages":"436"},"PeriodicalIF":2.2,"publicationDate":"2025-10-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145343354","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Dedicated drug-eluting stents versus bare-metal stents for vertebral artery origin stenosis: a real-world single-center experience. 专用药物洗脱支架与裸金属支架治疗椎动脉起源狭窄:真实世界的单中心经验。
IF 2.2 3区 医学
BMC Neurology Pub Date : 2025-10-17 DOI: 10.1186/s12883-025-04418-8
Xiaoxin Sun, Lei Wang, Rui Zhu, Yanli Zhang, Xinxiu Liu, Zhiyong Zhang
{"title":"Dedicated drug-eluting stents versus bare-metal stents for vertebral artery origin stenosis: a real-world single-center experience.","authors":"Xiaoxin Sun, Lei Wang, Rui Zhu, Yanli Zhang, Xinxiu Liu, Zhiyong Zhang","doi":"10.1186/s12883-025-04418-8","DOIUrl":"10.1186/s12883-025-04418-8","url":null,"abstract":"<p><strong>Background: </strong>In-stent restenosis (ISR) remains a major challenge following vertebral artery origin (VAO) stenting. Dedicated rapamycin-eluting vertebral artery stents were developed specifically for vertebral artery. This study aimed to compare the efficacy and safety of dedicated drug-eluting stents (DES) versus bare metal stents (BMS) in this anatomically complex lesion.</p><p><strong>Methods: </strong>In this observational prospective, single-center cohort study, consecutive patients with symptomatic severe vertebral artery origin stenosis (VAOS) undergoing either dedicated DES or BMS implantation between January 2021 and December 2023 were enrolled. The primary efficacy endpoint was the 1-year ISR rate (> 50% luminal stenosis within or adjacent to the stent). The primary safety endpoint was 30-day stroke/death. Secondary endpoints included stroke occurring between 31 days and 1 year, symptomatic ISR within 1 year, all-cause mortality from 31 days to 1 year, stent fracture, and perioperative complications.</p><p><strong>Results: </strong>A total of 217 patients were enrolled, including 150 dedicated DESs and 67 BMSs. Compared with the BMS group, the dedicated DES group showed Significantly lower 1-year ISR rates (14 [9.3%] vs. 25 [37.3%]; HR 0.22, 95% CI 0.11 - 0.45; p < 0.001), indicating a 75.1% relative risk reduction. No significant differences were observed in 30-day stroke/death (1 [0.7%] vs. 0 [0%]; p > 0.99) or 31-day to 1-year stroke (6 [4.0%] vs. 5 [7.5%]; OR 0.57, 95% CI 0.12 - 2.82; p = 0.49) between the two groups. Symptomatic ISR occurred exclusively in BMS group (2.6%, 1/39). Stent fracture rates were numerically higher with dedicated DES (13 [8.7%] vs 3 [4.5%], p = 0.60), with ISR occurring in 25.0% (4/16) of fractured versus 17.4% (35/201) of nonfractured stents. Mortality beyond 30 days was similar (1 [0.7%] vs 1 [1.5%], p > 0.99).</p><p><strong>Conclusions: </strong>Rapamycin-eluting vertebral artery stents significantly reduced ISR rates compared to BMS in symptomatic severe VAOS, while maintaining comparable short- and mid-term safety. Stent fracture warrants further investigation as a potential modulator of ISR risk.</p>","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":"25 1","pages":"433"},"PeriodicalIF":2.2,"publicationDate":"2025-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12534969/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145312455","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}
引用次数: 0
Association between lipid profiles and early clinical outcomes in acute ischemic stroke: a single-center cohort study in the Chinese population. 脂质谱与急性缺血性卒中早期临床结局的关系:中国人群的单中心队列研究
IF 2.2 3区 医学
BMC Neurology Pub Date : 2025-10-17 DOI: 10.1186/s12883-025-04444-6
Duanlu Hou, Yuanyuan Wang, Shuang Zhai, Xiaoli Yang, Yuping Tang, Danhong Wu
{"title":"Association between lipid profiles and early clinical outcomes in acute ischemic stroke: a single-center cohort study in the Chinese population.","authors":"Duanlu Hou, Yuanyuan Wang, Shuang Zhai, Xiaoli Yang, Yuping Tang, Danhong Wu","doi":"10.1186/s12883-025-04444-6","DOIUrl":"10.1186/s12883-025-04444-6","url":null,"abstract":"<p><strong>Background: </strong>The clinical significance and contribution of the lipid profile in atherosclerosis are well established. However, further investigation is needed in stroke patients, particularly regarding apolipoprotein B100 (ApoB100), a novel non-traditional lipid component in the lipid profile.</p><p><strong>Objectives: </strong>To explore lipid parameters and their impact on stroke outcomes in patients with and without thrombolysis.</p><p><strong>Methods: </strong>We prospectively enrolled patients with acute ischemic stroke (AIS) at a single center, including those who did and did not receive thrombolysis. Participants were stratified into improvement (favorable outcome at 2 weeks) and non-improvement groups. Demographic, laboratory, imaging, and clinical scale data were compared between groups. Random forest analyses were used to evaluate the predictive value and importance of individual lipid measures: triglycerides, total cholesterol, high-density lipoprotein (HDL), low-density lipoprotein (LDL), ApoB100, and lipoprotein(a), which better describe the internal characteristics of the profile.</p><p><strong>Results: </strong>Complete data were available for 262 AIS patients, 165 of whom received thrombolysis. Plasma ApoB100 levels were significantly lower in the thrombolysis group (p < 0.001) and decreased ApoB100 levels were independently associated with 2-week stroke improvement (p = 0.009, OR = 0.89, 95% CI: 0.84-0.93). Random-forest feature-importance plots revealed that HDL and ApoB100 (each contributing > 15%) were the strongest lipid predictors of a favorable outcome, outperforming the other lipid variables.</p><p><strong>Conclusions: </strong>We found that thrombolysis is associated with ApoB100 decrease and a decrease in ApoB100 can predict the 2-week functional improvement in stroke. HDL and ApoB100 emerge as more important determinants of favorable AIS outcomes in this machine-learning analysis. These findings warrant external validation in multi-center trials.</p><p><strong>Trial registration: </strong>ChiCTR1800018315, 11/09/2018.</p>","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":"25 1","pages":"429"},"PeriodicalIF":2.2,"publicationDate":"2025-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12532402/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145312312","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}
引用次数: 0
Effects of PCSK9 inhibitor evolocumab on preventing early neurological deterioration in acute ischemic stroke patients with or without large artery atherosclerosis: a subgroup analysis of a randomized trial. PCSK9抑制剂evolocumab在伴有或不伴有大动脉粥样硬化的急性缺血性卒中患者中预防早期神经功能恶化的作用:一项随机试验的亚组分析
IF 2.2 3区 医学
BMC Neurology Pub Date : 2025-10-17 DOI: 10.1186/s12883-025-04434-8
Jiahui Liu, Ying Li, Wen Tian, Hua Cao, Xidan Li, Liyuan Cheng, Xiaofei Ji, Jing Liu
{"title":"Effects of PCSK9 inhibitor evolocumab on preventing early neurological deterioration in acute ischemic stroke patients with or without large artery atherosclerosis: a subgroup analysis of a randomized trial.","authors":"Jiahui Liu, Ying Li, Wen Tian, Hua Cao, Xidan Li, Liyuan Cheng, Xiaofei Ji, Jing Liu","doi":"10.1186/s12883-025-04434-8","DOIUrl":"10.1186/s12883-025-04434-8","url":null,"abstract":"<p><strong>Background: </strong>Our previous study has demonstrated the preventive effects of proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitor on early neurological deterioration (END) in patients with acute non-cardiogenic ischemic stroke. Here, we performed a post hoc subgroup analysis to investigate whether the large artery atherosclerosis (LAA) subtype contributed to the clinical outcomes.</p><p><strong>Methods: </strong>According to the Trial of Org 10172 in Acute Stroke Treatment (TOAST) classification, patients were divided into LAA and small vessel occlusion (SVO) subgroups. In each subgroup, patients were further subdivided into combination therapy of evolocumab and atorvastatin (PI group) and atorvastatin monotherapy (AT group). The primary outcome was END within 7 days, defined as a ≥ 2-point National Institutes of Health Stroke Scale (NIHSS) score increase or NIHSS motor score ≥ 1-point compared with baseline.</p><p><strong>Results: </strong>A total of 272 patients were included: 186 were categorized into the LAA subtype (93 in the PI group and 93 in the AT group) and 86 into the SVO subtype (43 in the PI group and 43 in the AT group). Compared with AT group, the primary analyses showed a significantly lower incidence of END with PI group in the LAA subtype (14.0% versus 28.0%; RR, 0.45; 95% CI, 0.26 to 0.80; p = 0.006), but not in the SVO subtype (11.6% versus 16.3%; RR, 0.77; 95% CI, 0.26 to 2.33; p = 0.649). Similar results were observed in terms of favorable functional Outcome at 90 days, combination therapy of evolocumab and atorvastatin was significantly associated with a high proportion of modified Rankin Scale scores of 0-2 at 90 days in the LAA group (81.7% versus 61.3%; RR, 1.39; 95% CI, 1.18 to 1.65; p < 0.001), but not in the SVO subtype (86.0% versus 74.4%; RR, 1.16; 95% CI, 0.95 to 1.42; p = 0.157). Other outcomes were similar between the two treatment groups in patients with LAA or SVO subtypes.</p><p><strong>Conclusions: </strong>Among patients with LAA subtype stroke, combination therapy of evolocumab and atorvastatin may be superior to atorvastatin monotherapy regarding preventing END.</p><p><strong>Trial registration: </strong>http://www.chictr.org.cn . Identifier: ChicTR2200059445. Date of registration: 29 April 2022.</p>","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":"25 1","pages":"431"},"PeriodicalIF":2.2,"publicationDate":"2025-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12532393/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145312456","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}
引用次数: 0
The effect of remote ischemic conditioning combined with tirofiban on early neurological deterioration in small artery occlusive stroke. 远程缺血调节联合替罗非班对小动脉闭塞性脑卒中早期神经功能恶化的影响。
IF 2.2 3区 医学
BMC Neurology Pub Date : 2025-10-17 DOI: 10.1186/s12883-025-04452-6
Zhiyong Zhang, Xinxiu Liu, Lei Wang, Xunming Ji
{"title":"The effect of remote ischemic conditioning combined with tirofiban on early neurological deterioration in small artery occlusive stroke.","authors":"Zhiyong Zhang, Xinxiu Liu, Lei Wang, Xunming Ji","doi":"10.1186/s12883-025-04452-6","DOIUrl":"10.1186/s12883-025-04452-6","url":null,"abstract":"<p><strong>Objectives: </strong>Early neurological deterioration (END) remains a significant challenge in the treatment of small artery occlusive (SAO) stroke. The purpose of this study was to evaluate the efficacy and safety of remote ischemic conditioning (RIC) combined with tirofiban for patients with SAO stroke experiencing END.</p><p><strong>Methods: </strong>We retrospectively reviewed 143 consecutive patients with acute SAO stroke experiencing END who received intravenous tirofiban between January 2021 and December 2024. According to the use of RIC treatment, the patients were divided into RIC group (72 cases) and control (no-RIC) group (71 cases). The primary efficacy outcome was early neurological improvement (a decrease of ≥2 points in the National Institutes of Health Stroke Scale (NIHSS) score at 7 days after END). The secondary efficacy outcomes included absolute reduction in NIHSS score at 7 days, modified Rankin Scale scores at 90 days, proportion of disabling stroke, recurrence of ischemic stroke within 90 days. The safety outcomes were symptomatic intracranial hemorrhage, any ICH, adverse events, and 90-day all-cause mortality.</p><p><strong>Results: </strong>The RIC group exhibited a greater absolute reduction in NIHSS score at 7 days after treatment (mean ± SD: 1.67 ± 1.80 vs. 0.96 ± 1.91; adjusted P=0.015), and early neurological improvement was achieved in 55.6% of the RIC group and 29.6% of the control group (adjusted odds ratio, 3.34 [95% CI, 1.61-6.93]; P=0.001). No symptomatic intracranial hemorrhage or any intracranial hemorrhage occurred in either group. Additionally, the 90-day all-cause mortality did not differ significantly between the RIC and sham groups (1.4% vs. 2.8%, hazard ratio, 0.49 [95% CI, 0.04-5.41]; P=0.561).</p><p><strong>Conclusions: </strong>In patients with small artery occlusive stroke experiencing END, the combination of RIC and tirofiban seems associated with early neurological improvement without increasing the risk of intracranial hemorrhage or serious adverse events. Future multicenter, large-sample randomized clinical trials are warranted to validate these results.</p>","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":"25 1","pages":"434"},"PeriodicalIF":2.2,"publicationDate":"2025-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12534941/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145312459","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}
引用次数: 0
Multisystemic manifestations of a rare Glu89Lys (p. Glu109Lys) transthyretin amyloidosis: a case report of an East Asian female. 罕见的Glu89Lys (p. Glu109Lys)转甲状腺蛋白淀粉样变的多系统表现:东亚女性1例报告。
IF 2.2 3区 医学
BMC Neurology Pub Date : 2025-10-17 DOI: 10.1186/s12883-025-04392-1
Linhuan Huang, Houshi Zhou, Junling Chen, Ting Fang, Qi Lin
{"title":"Multisystemic manifestations of a rare Glu89Lys (p. Glu109Lys) transthyretin amyloidosis: a case report of an East Asian female.","authors":"Linhuan Huang, Houshi Zhou, Junling Chen, Ting Fang, Qi Lin","doi":"10.1186/s12883-025-04392-1","DOIUrl":"10.1186/s12883-025-04392-1","url":null,"abstract":"<p><strong>Background: </strong>Transthyretin amyloidosis (ATTRv) presents with highly variable, multisystem phenotypes, complicating diagnosis.</p><p><strong>Case presentation: </strong>We describe a diagnostically challenging case of ATTRv caused by the rare Glu89Lys (p. Glu109Lys) variant in an East Asian female-the first reported instance in this ethnic group. The patient exhibited a complex multisystem phenotype spanning progressive axonal sensorimotor polyneuropathy with autonomic dysfunction, cerebral infarction, hypertrophic cardiomyopathy, vitreous opacities, and unexplained cachexia, culminating in a 4-year diagnostic odyssey. The lack of clinical suspicion delayed definitive diagnosis, ultimately achieved through combined tissue biopsy confirming amyloid deposits and targeted genetic sequencing confirming Glu89Lys variant.</p><p><strong>Conclusion: </strong>Our findings highlight the imperative for heightened clinical vigilance and early utilization of multimodal diagnostic strategies in suspected ATTRv cases.</p>","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":"25 1","pages":"430"},"PeriodicalIF":2.2,"publicationDate":"2025-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12532868/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145312458","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}
引用次数: 0
Cognitive impairment and associated factors among adult diabetes mellitus patients in Amhara National Regional State referral hospitals, Ethiopia: a multicenter institution-based cross-sectional study. 埃塞俄比亚阿姆哈拉国家地区州立转诊医院成年糖尿病患者的认知障碍及其相关因素:一项多中心机构横断面研究
IF 2.2 3区 医学
BMC Neurology Pub Date : 2025-10-17 DOI: 10.1186/s12883-025-04415-x
Mitku Tessafa, Winta Tesfaye, Yibeltal Yismaw Gela, Baye Ashenef, Amanuel Baye, Mohammed Jemal
{"title":"Cognitive impairment and associated factors among adult diabetes mellitus patients in Amhara National Regional State referral hospitals, Ethiopia: a multicenter institution-based cross-sectional study.","authors":"Mitku Tessafa, Winta Tesfaye, Yibeltal Yismaw Gela, Baye Ashenef, Amanuel Baye, Mohammed Jemal","doi":"10.1186/s12883-025-04415-x","DOIUrl":"10.1186/s12883-025-04415-x","url":null,"abstract":"","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":"25 1","pages":"435"},"PeriodicalIF":2.2,"publicationDate":"2025-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12534951/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145312340","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}
引用次数: 0
Idiopathic polyneuropathy with neurogenic autonomic failure - an early manifestation of Lewy body disease? a case report. 特发性多发性神经病伴神经源性自主神经衰竭-路易体病的早期表现?一份病例报告。
IF 2.2 3区 医学
BMC Neurology Pub Date : 2025-10-17 DOI: 10.1186/s12883-025-04414-y
Naja Helt Andersen, Per Borghammer, Kathrin Doppler, Hanne Gottrup, Karoline Knudsen, Anastasia Kuzkina, Nathalie Van Den Berge, Marit Otto, Astrid Juhl Terkelsen
{"title":"Idiopathic polyneuropathy with neurogenic autonomic failure - an early manifestation of Lewy body disease? a case report.","authors":"Naja Helt Andersen, Per Borghammer, Kathrin Doppler, Hanne Gottrup, Karoline Knudsen, Anastasia Kuzkina, Nathalie Van Den Berge, Marit Otto, Astrid Juhl Terkelsen","doi":"10.1186/s12883-025-04414-y","DOIUrl":"10.1186/s12883-025-04414-y","url":null,"abstract":"<p><p>With the present case we suggest that idiopathic large-fiber polyneuropathy with autonomic failure, pathological cardiac [123I]Metaiodobenzylguanidine (MIBG) scintigraphy and α-synuclein positivity in cutaneous autonomic nerves is a prodromal manifestation of body-first Lewy body disease (LBD).Case Presentation: A previously healthy 74-year-old man presented with painful polyneuropathy and orthostatic intolerance. Phenotypic characterization demonstrated small- and large-fiber sensory-motor-autonomic polyneuropathy, cardiac sympathetic denervation and cardiovagal and cardiovascular adrenergic dysfunction. Despite thorough examination and exclusion of diabetes, primary- and hereditary transthyretin amyloidosis, no underlying cause was found. Interestingly, LBD was suspected due to abnormal cardiac MIBG scintigraphy, constipation, hyposmia, REM sleep behavior disorder (RBD), and mild cognitive impairment. Seed amplification assay (SAA) for pathological α-synuclein was positive in a skin biopsy (neck) with deposits localized in the autonomic nerves based on immunohistochemistry. He was clinically diagnosed with mild dementia with Alzheimer's Disease (AD) pathology. However, given the presence of severe autonomic dysfunction, RBD, pathological α-synuclein in addition to AD pathology, dual pathology with Lewy bodies (representing a body-first LBD) should be considered. Conclusion: This case highlights the importance of evaluating patients with idiopathic large-fiber polyneuropathy with autonomic failure for underlying LBD. We propose that both neuropathy and cardiac denervation may stem from the widespread peripheral neurodegeneration associated with pre-motor body-first LBD, although there is no direct evidence of causality. In this case, with idiopathic small- and large-fiber sensory-motor-autonomic neuropathy and abnormal MIBG scintigraphy, detection of α-synuclein in cutaneous autonomic nerves, supports our proposal. Thus, we suggest idiopathic polyneuropathy with autonomic failure to represent a non-motor prodromal manifestations in LBD.</p>","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":"25 1","pages":"432"},"PeriodicalIF":2.2,"publicationDate":"2025-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12533446/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145312457","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}
引用次数: 0
Clinical and radiological characteristics of adult-onset X-linked adrenoleukodystrophy: a Chinese cohort study and review of the literature. 成人发病x连锁肾上腺脑白质营养不良的临床和影像学特征:一项中国队列研究和文献综述。
IF 2.2 3区 医学
BMC Neurology Pub Date : 2025-10-15 DOI: 10.1186/s12883-025-04449-1
Han Xiao, Hui Huang, Ying Chen, Yingying Luo, Zhenchu Tang, Xuling Tan, Xiaoliu Shi, Chunyu Wang, Hainan Zhang, Jia Fang, Jianguang Tang
{"title":"Clinical and radiological characteristics of adult-onset X-linked adrenoleukodystrophy: a Chinese cohort study and review of the literature.","authors":"Han Xiao, Hui Huang, Ying Chen, Yingying Luo, Zhenchu Tang, Xuling Tan, Xiaoliu Shi, Chunyu Wang, Hainan Zhang, Jia Fang, Jianguang Tang","doi":"10.1186/s12883-025-04449-1","DOIUrl":"10.1186/s12883-025-04449-1","url":null,"abstract":"<p><strong>Background: </strong>Adrenoleukodystrophy (ALD) is a rare X-linked genetic metabolic disorder characterized by the accumulation of very long chain fatty acids (VLCFA) within the adrenal glands, as well as the central and peripheral nervous systems. Adult-onset ALD is particularly uncommon and easily misdiagnosed. The objective of this study is to facilitate the early diagnosis and treatment of adult-onset ALD.</p><p><strong>Case presentation: </strong>Seven adult-onset ALD patients of Chinese descent were enrolled in the study. Detailed clinical characteristics, laboratory results, imaging findings and genetic testing of the patients were collected and analyzed. All seven patients diagnosed with adult-onset ALD were male, including two with adult cerebral ALD (ACALD), one with adrenomyeloneuropathy (AMN), and four presenting with the spinocerebellar variant. The primary clinical manifestations of the two ACALD patients were progressive cognitive dysfunction and psychiatric symptoms. The AMN patient showed chronic progressive spastic paraplegia and displayed non-specific thoracic spinal cord atrophy on MRI. Symptoms observed in the four patients with spinocerebellar variant included cerebellar ataxia, dysarthria, spastic paraplegia, peripheral neuropathy, sphincter dysfunction, and alopecia. These four patients all demonstrated symmetrical white matter hyperintensity (WMH) in the cerebellum on brain magnetic resonance imaging (MRI). Additionally, two of these patients exhibited abnormal MRI signals in the pyramidal tract. All the patients had an elevation of VLCFAs, which is diagnostic for ALD. One patient exhibited elevated adrenocorticotropic hormone (ACTH) and decreased cortisol levels, while six patients displayed slightly elevated ACTH levels and normal cortisol levels without any clinical signs of adrenal insufficiency. Genetic testing identified four known ABCD1 pathogenic variants as well as two novel pathogenic variants.</p><p><strong>Conclusions: </strong>Progressive cognitive impairment and behavioral abnormalities are common clinical manifestations of ACALD. AMN and the spinocerebellar variant are prevalent phenotypes of adult-onset ALD. Patients with adult-onset ALD may present with isolated WMH in the cerebellum on brain MRI. Routine screening for ALD should be conducted in male patients diagnosed with Addison's disease. Subclinical adrenal cortex insufficiency is a common finding in adult-onset ALD. Elevated levels of VLCFA function as a reliable clinical biomarker for ALD. The identification of novel pathogenic variants in ABCD1 broadens the genetic spectrum of ALD.</p>","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":"25 1","pages":"428"},"PeriodicalIF":2.2,"publicationDate":"2025-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12523032/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145298490","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}
引用次数: 0
Effect of gaze direction recognition task on pain, rom and functional activities in cervicogenic headache patients. 注视方向识别任务对颈源性头痛患者疼痛、活动和功能活动的影响。
IF 2.2 3区 医学
BMC Neurology Pub Date : 2025-10-15 DOI: 10.1186/s12883-025-04405-z
Mohamed Abdelaziz Emam, Salma Ragab, András Attila Horváth, Olfat Ibrahim Ali, Zizi M Ibrahim, Magda Ramadan
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