Neurological Sciences最新文献

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Beyond β-amyloid: transthyretin cerebral amyloid angiopathy. 超越β-淀粉样蛋白:转甲状腺素脑淀粉样血管病。
IF 2.7 4区 医学
Neurological Sciences Pub Date : 2026-09-26 DOI: 10.1007/s10072-026-09398-2
Carla Vera-Cáceres, Carolina Montecino Romanini, Montserrat González Platas, Irene Sánchez-Miranda Román, Alberto López Traba, Yeilen Aguilera, Abel Díaz Díaz, Azuquahe Pérez Hernández, Beatríz Báez Acosta, Daysi Chi
{"title":"Beyond β-amyloid: transthyretin cerebral amyloid angiopathy.","authors":"Carla Vera-Cáceres, Carolina Montecino Romanini, Montserrat González Platas, Irene Sánchez-Miranda Román, Alberto López Traba, Yeilen Aguilera, Abel Díaz Díaz, Azuquahe Pérez Hernández, Beatríz Báez Acosta, Daysi Chi","doi":"10.1007/s10072-026-09398-2","DOIUrl":"10.1007/s10072-026-09398-2","url":null,"abstract":"<p><p>Cerebral amyloid angiopathy (CAA) is most commonly associated with β-amyloid deposition, but other amyloid proteins may accumulate in leptomeningeal and superficial cortical vessels. We report a man first evaluated neurologically at 44 years of age after approximately one year of recurrent upper-limb and perioral sensory symptoms with speech disturbance, retrospectively considered transient focal neurological episodes (TFNEs). During follow-up, he developed bilateral vitritis and progressive behavioral, psychiatric, and cognitive impairment. Brain computed tomography showed diffuse linear and serpiginous leptomeningeal hyperdensities, consistent with calcified amyloid deposits with focal cortical subarachnoid hemorrhagic lesions SAH); angiography showed no underlying vascular abnormality. Follow-up neuroimaging demonstrated persistent leptomeningeal abnormalities and hemorrhagic lesions. Leptomeningeal biopsy revealed Congo red- and thioflavin S-positive vascular and meningeal amyloid deposits, with negative β-amyloid and amyloid A immunohistochemistry. A subcutaneous adipose tissue biopsy supported systemic amyloid deposition, and genetic testing identified the heterozygous TTR c.265T > C, p.(Tyr89His) variant. Electroneurography showed no large-fiber peripheral neuropathy. An off-label trial of tolcapone produced no clinical benefit. The patient subsequently developed severe cognitive and functional disability and progressive hydrocephalus, and died at 55 years of age from acute respiratory failure. This case highlights TTR-related cerebral amyloid angiopathy (TTR-CAA) as an important non-β-amyloid cause of TFNEs, calcified leptomeningeal infiltration, focal superficial hemorrhage, and progressive neuropsychiatric decline.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 10","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13616015/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149063143","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Acquired paroxysmal dysarthria-ataxia syndrome: A systematic review of clinical and MRI findings. 获得性阵发性构音障碍-共济失调综合征:临床和MRI表现的系统回顾。
IF 2.7 4区 医学
Neurological Sciences Pub Date : 2026-09-26 DOI: 10.1007/s10072-026-09413-6
Krzysztof Smolik, Pedro Fraiman, João Claudio Urbano, Rodrigo Alencar, Maria Chiara Bassi, Annalisa Gessani, Sara Montepietra, Manuela Napoli, Francesco Cavallieri, Franco Valzania, Elena Moro, Clecio Godeiro Junior
{"title":"Acquired paroxysmal dysarthria-ataxia syndrome: A systematic review of clinical and MRI findings.","authors":"Krzysztof Smolik, Pedro Fraiman, João Claudio Urbano, Rodrigo Alencar, Maria Chiara Bassi, Annalisa Gessani, Sara Montepietra, Manuela Napoli, Francesco Cavallieri, Franco Valzania, Elena Moro, Clecio Godeiro Junior","doi":"10.1007/s10072-026-09413-6","DOIUrl":"10.1007/s10072-026-09413-6","url":null,"abstract":"<p><p>Paroxysmal dysarthria-ataxia syndrome (PDAS) is a rare neurological syndrome initially described in Multiple Sclerosis (MS) and subsequently reported in other conditions. This systematic review focuses on acquired forms of PDAS associated with structural or immune-mediated aetiologies. After screening 3802 articles, 25 studies (31 patients) were included. Twenty-two patients (71%) were male, and the mean age of PDAS onset was 52 years. The most frequent diagnosis was MS, observed in 12 patients (39%), followed by anti-contactin associated protein receptor 2 encephalitis in 6 cases (19%). Lesions were most commonly located in the midbrain, reported in 20 patients (65%). Both the duration and frequency of PDA episodes varied greatly. Outcomes were favorable, with complete resolution of symptoms after pharmacological treatment in 29 patients (93%). Treatment mainly consisted of antiepileptic drugs (AEDs), most commonly carbamazepine, used in 14 patients (45%). These findings show that PDAS is not exclusively associated with MS and that, when treated, its prognosis is generally very good.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 10","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149063092","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
C9ORF72-associated bulbar-onset ALS in a patient with secondary progressive multiple sclerosis and conjugal ALS. 继发性进行性多发性硬化症和偶联性ALS患者的c9orf72相关球性ALS
IF 2.7 4区 医学
Neurological Sciences Pub Date : 2026-09-26 DOI: 10.1007/s10072-026-09425-2
Kamran Moradi, Yaesshna Pillay, Christina J Azevedo, Leila Darki, Said R Beydoun
{"title":"C9ORF72-associated bulbar-onset ALS in a patient with secondary progressive multiple sclerosis and conjugal ALS.","authors":"Kamran Moradi, Yaesshna Pillay, Christina J Azevedo, Leila Darki, Said R Beydoun","doi":"10.1007/s10072-026-09425-2","DOIUrl":"10.1007/s10072-026-09425-2","url":null,"abstract":"","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 10","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149063154","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Painless legs and moving toes phenotype in corticobasal syndrome with biomarker evidence of Alzheimer's disease: a case report. 具有阿尔茨海默病生物标志物证据的皮质基底综合征的无痛腿和移动脚趾表型:一个病例报告。
IF 2.7 4区 医学
Neurological Sciences Pub Date : 2026-09-26 DOI: 10.1007/s10072-026-09429-y
Nobuko Kawakami, Takafumi Hasegawa, Kazuo Kakinuma, Chifumi Iseki, Shigenori Kanno
{"title":"Painless legs and moving toes phenotype in corticobasal syndrome with biomarker evidence of Alzheimer's disease: a case report.","authors":"Nobuko Kawakami, Takafumi Hasegawa, Kazuo Kakinuma, Chifumi Iseki, Shigenori Kanno","doi":"10.1007/s10072-026-09429-y","DOIUrl":"10.1007/s10072-026-09429-y","url":null,"abstract":"","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 10","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149063260","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Comparative efficacy of brain-computer interface-coupled robotic rehabilitation, robot-assisted therapy, and motor imagery for upper-limb motor recovery after stroke: a systematic review and network meta-analysis. 脑机接口耦合机器人康复、机器人辅助治疗和运动图像对中风后上肢运动恢复的比较疗效:系统综述和网络荟萃分析。
IF 2.7 4区 医学
Neurological Sciences Pub Date : 2026-09-25 DOI: 10.1007/s10072-026-09375-9
Yunting Wu, Ran Zhang, Fei Wu, Minghui Liu, Yuying Wang, Weige Sun, Weixin Cai
{"title":"Comparative efficacy of brain-computer interface-coupled robotic rehabilitation, robot-assisted therapy, and motor imagery for upper-limb motor recovery after stroke: a systematic review and network meta-analysis.","authors":"Yunting Wu, Ran Zhang, Fei Wu, Minghui Liu, Yuying Wang, Weige Sun, Weixin Cai","doi":"10.1007/s10072-026-09375-9","DOIUrl":"10.1007/s10072-026-09375-9","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Objective: &lt;/strong&gt;To compare and rank the efficacy of brain-computer interface-coupled robotic rehabilitation (BCI-robot), robot-assisted therapy, motor imagery (MI), and conventional rehabilitation for upper-limb recovery after stroke, and to explore whether treatment effects differed according to key clinical and intervention-related characteristics.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;A systematic search was conducted in 11 databases from inception to March 31, 2026. Randomized controlled trials enrolling adults with post-stroke upper-limb motor impairment were included. The primary outcome was the Fugl-Meyer Assessment of Upper Extremity (FMA-UE). Secondary outcomes included the Action Research Arm Test (ARAT), Wolf Motor Function Test (WMFT), and Modified Barthel Index (MBI). Direct pairwise meta-analyses were performed using mean differences (MDs) with 95% confidence intervals (CIs), and a frequentist network meta-analysis was conducted to synthesize direct and indirect evidence and rank interventions using P-scores.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;Twenty-three reports representing 22 independent study cohorts were included, comprising 727 participants. Network meta-analysis showed no significant inconsistency, and the consistency model was adopted. BCI-robot ranked highest for improving FMA-UE according to the P-score analysis (P-score = 0.992), followed by robot-assisted therapy (0.641), MI (0.240), and conventional rehabilitation (0.127). In direct comparisons, BCI-robot produced a statistically significant improvement in FMA-UE versus conventional rehabilitation (MD = 6.80, 95% CI 4.29 to 9.30). The point estimate exceeded the 5.25-point (minimal clinically important difference) MCID, although the lower confidence limit did not. Compared with robot-assisted therapy, BCI-robot showed a statistically significant but small improvement (MD = 2.04, 95% CI 0.29 to 3.78), with both the point estimate and the entire 95% CI remaining below the MCID. Follow-up-duration subgroup analyses suggested that BCI-robot remained favorable over conventional rehabilitation in both &lt; 3-month and ≥ 3-month subgroups, whereas no significant follow-up advantage over robot-assisted therapy was observed. For secondary outcomes, BCI-robot significantly improved WMFT versus conventional rehabilitation (MD = 8.94, 95% CI 5.22 to 12.65) and MBI versus conventional rehabilitation (MD = 3.37, 95% CI 0.10 to 6.63). A significant benefit for MBI versus robot was also observed (MD = 8.61, 95% CI 1.76 to 15.46), although this result was not robust in sensitivity analysis. No significant advantage was found for ARAT. Exploratory subgroup analyses suggested that, compared with robot-assisted therapy, the additional benefit of BCI-robot was more apparent in studies delivering more than four sessions per week.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusions: &lt;/strong&gt;BCI-robot ranked highest for improving FMA-UE and may provide a clinically important benefit over conventional rehabilitatio","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 10","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149063255","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Longitudinal dynamics and clinical significance of acetylcholine receptor blocking antibodies in myasthenia gravis. 重症肌无力患者乙酰胆碱受体阻断抗体的纵向动态及临床意义。
IF 2.7 4区 医学
Neurological Sciences Pub Date : 2026-09-25 DOI: 10.1007/s10072-026-09423-4
Aigli G Vakrakou, Maria Belimezi, Eleni Strataki, Eleftherios Kontizas, Dimitra Tzavella, Dimitrios Panaretos, Emmanouil Angelakis, Vasiliki Zouvelou
{"title":"Longitudinal dynamics and clinical significance of acetylcholine receptor blocking antibodies in myasthenia gravis.","authors":"Aigli G Vakrakou, Maria Belimezi, Eleni Strataki, Eleftherios Kontizas, Dimitra Tzavella, Dimitrios Panaretos, Emmanouil Angelakis, Vasiliki Zouvelou","doi":"10.1007/s10072-026-09423-4","DOIUrl":"10.1007/s10072-026-09423-4","url":null,"abstract":"<p><strong>Objectives: </strong>To investigate the longitudinal clinical relevance of acetylcholine receptor (AChR) blocking antibodies in myasthenia gravis (MG).</p><p><strong>Methods: </strong>We prospectively studied 47 AChR-positive MG patients with 121 serial antibody measurements over a mean follow-up of 2.8 years. AChR-binding antibodies were measured by a conventional radioimmunoprecipitation assay, whereas AChR-blocking activity was measured using a competitive radioimmunoassay. Disease severity was assessed using Myasthenia Gravis Foundation of America (MGFA) classification. Longitudinal associations were analyzed using generalized estimating equations (GEE).</p><p><strong>Results: </strong>Blocking antibodies (> 20% inhibition) were associated with MGFA severity across repeated observations in longitudinal GEE analysis (β = 0.045, p < 0.001), whereas binding antibodies were not significant. Among 13 patients with ocular-onset MG, all 8 who progressed to generalized disease were blocking antibody-positive, while none of the 5 patients who remained ocular tested positive. Blocking antibodies were detected in 90.5% of generalized MG patients, whereas all persistently ocular patients were negative.</p><p><strong>Conclusions: </strong>AChR blocking antibodies are associated with MG disease severity over time and may help identify ocular MG patients at risk of generalization, supporting their potential clinical relevance in MG.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 10","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13612679/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149040015","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Aggressive brainstem listeria abscess in an immunocompetent individual: A case report. 免疫正常个体侵袭性脑干李斯特菌脓肿1例报告。
IF 2.7 4区 医学
Neurological Sciences Pub Date : 2026-09-25 DOI: 10.1007/s10072-026-09434-1
Pankhuri Banerjee, Destiny Marquez, Alexandra S Reynolds, Fernanda Carvalho Poyraz, Dana Klavansky
{"title":"Aggressive brainstem listeria abscess in an immunocompetent individual: A case report.","authors":"Pankhuri Banerjee, Destiny Marquez, Alexandra S Reynolds, Fernanda Carvalho Poyraz, Dana Klavansky","doi":"10.1007/s10072-026-09434-1","DOIUrl":"10.1007/s10072-026-09434-1","url":null,"abstract":"<p><p>Listeria monocyotogenes, a gram-positive bacterium is transmitted to humans through ingestion of contaminated foods, including deli meats, soft cheeses, and raw vegetables but can also thrive in soil, water, sewage, manure and animal feed. Its infection in immunocompetent patients is fairly limited to gastrointestinal distress but carries a high mortality rate in immunocompromised patients especially when affecting the central nervous system. We present a challenging case of an immunocompetent patient in their late 50s with neurolisteriosis presenting as multifocal brainstem abscesses with an extensive negative infectious workup and complex antibiotic regimen. This case underscores the diagnostic and therapeutic difficulties of managing invasive neurolisteriosis and aims to enhance critical thinking, particularly in the context of recent recurring listeria outbreaks. Despite being critically ill for months, this patient has had a dramatic recovery and is a reminder that neurologic infections can ultimately be associated with good outcome if the infection is aggressively and promptly treated.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 10","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149063094","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Effectiveness of atogepant in migraine with and without medication overuse: Pooled real-world analysis of two independent clinical cohorts. 有和没有药物过度使用的偏头痛的联合治疗的有效性:两个独立临床队列的真实世界汇总分析。
IF 2.7 4区 医学
Neurological Sciences Pub Date : 2026-09-24 DOI: 10.1007/s10072-026-09428-z
Marcella De Luca, Ludovica Ferraù, Maria Stella Adragna, Andrea Cafarchio, Rosario Grugno, Gianluca Vita, Riccardo Lo Presti, Domenico Cosenza, Massimo Autunno
{"title":"Effectiveness of atogepant in migraine with and without medication overuse: Pooled real-world analysis of two independent clinical cohorts.","authors":"Marcella De Luca, Ludovica Ferraù, Maria Stella Adragna, Andrea Cafarchio, Rosario Grugno, Gianluca Vita, Riccardo Lo Presti, Domenico Cosenza, Massimo Autunno","doi":"10.1007/s10072-026-09428-z","DOIUrl":"10.1007/s10072-026-09428-z","url":null,"abstract":"<p><strong>Background: </strong>Medication-overuse headache (MOH) is common in treatment-resistant chronic migraine and may complicate preventive management. The aim of this study was to evaluate the short-term effectiveness of atogepant 60 mg once daily in a pooled real-world population of patients with migraine, including treatment-resistant chronic migraine, and to explore whether baseline MOH influenced treatment response.</p><p><strong>Methods: </strong>This pooled observational study combined two independent real-world cohorts of patients treated with atogepant 60 mg once daily for migraine prevention. The database included 78 patients, with short-term follow-up recorded at 12 weeks in one cohort and at 3 months in the other. Monthly migraine days (MMD), monthly symptomatic medication use, Migraine Disability Assessment (MIDAS), Headache Impact Test-6 (HIT-6), and treatment documentation were harmonized. Effectiveness was analyzed in the pooled population, while exploratory comparisons were performed according to baseline medication-overuse headache (MOH) status.</p><p><strong>Results: </strong>The pooled database included 78 patients, and paired MMD measurements were available for 73. Median MMD decreased from 13.0 [10.0-20.0] to 4.0 [3.0-8.0], with a median reduction of 7.0 [6.0-11.0] days/month (p < 0.001). A reduction of at least 50% was achieved by 54/73 patients (74.0%). MIDAS, HIT-6, and monthly symptomatic medication use also improved significantly (all p < 0.001). MOH status was available for 77 patients: 24 had MOH and 53 did not. Patients with MOH had a greater baseline burden and larger absolute reductions in MMD and symptomatic medication use; however, MMD percentage reduction and responder rates did not differ significantly by MOH status. Adverse-event documentation was available for 70 patients, of whom 19 had at least one recorded event.</p><p><strong>Conclusions: </strong>In this pooled real-world analysis, atogepant was associated with clinically meaningful short-term improvement in migraine frequency, disability, headache impact, and symptomatic medication use. Baseline MOH was associated with greater initial disease burden but did not appear to attenuate proportional treatment response. Because safety and persistence were documented differently in the two cohorts, pooled tolerability estimates should be interpreted descriptively.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 10","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149039966","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Neural correlates and clinical application of mirror neuron-based interventions in swallowing function rehabilitation: a scoping review. 基于镜像神经元的干预在吞咽功能康复中的神经相关性和临床应用:范围综述。
IF 2.7 4区 医学
Neurological Sciences Pub Date : 2026-09-24 DOI: 10.1007/s10072-026-09396-4
Lin Qiu, BeiYi Ma, QinYi Yang, HuiQin Zhang, Lanshu Zhou
{"title":"Neural correlates and clinical application of mirror neuron-based interventions in swallowing function rehabilitation: a scoping review.","authors":"Lin Qiu, BeiYi Ma, QinYi Yang, HuiQin Zhang, Lanshu Zhou","doi":"10.1007/s10072-026-09396-4","DOIUrl":"10.1007/s10072-026-09396-4","url":null,"abstract":"<p><strong>Background: </strong>Dysphagia is common worldwide. Mirror neuron-based swallowing interventions provide repetitive, neuromodulatory training that enhances both therapeutic accessibility and efficacy.</p><p><strong>Objectives: </strong>This review systematically synthesizes the neural correlates and clinical applications of mirror neuron-based approaches in dysphagia rehabilitation, with a specific focus on the conceptual definition, neural correlates, and intervention characteristics of mirror therapy for swallowing.</p><p><strong>Methods: </strong>Five databases (PubMed, Web of Science, Cochrane Library, Scopus, and Embase) were searched from inception to March 31, 2026. Studies were included if they involved adults (≥ 18 years), examined swallowing function based on mirror neuron theory, and were published in English. Two reviewers independently performed study selection and data extraction. Data were synthesized narratively.</p><p><strong>Results: </strong>Nineteen studies encompassing 445 participants (aged 18-80 years) were included. Nine studies conceptualized mirror neuron-based interventions for dysphagia across three domains: interventions, mechanisms, and outcomes. Thirteen studies reported neural correlates, demonstrating that action observation, motor imagery, and observation-induced imagery of swallowing activate overlapping brain networks with those engaged during actual swallowing. Six intervention studies showed that two to six weeks of action observation, motor imagery, or their combination improved swallowing function and enhanced cortical activation in premotor and sensorimotor areas.</p><p><strong>Conclusions: </strong>Mirror neuron-based intervention for dysphagia is a rehabilitation technique grounded in mirror neuron mechanisms. Neurophysiological evidence suggests the activation of swallowing-related neural networks, and interventional studies indicate its positive effects, particularly in post-stroke dysphagia.</p><p><strong>Systematic review registration: </strong>https://osf.io/yvqt5.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 10","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149031027","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Dysregulation of mitochondrial bioenergetics, RNA processing, and cellular stress responses in FUS-ALS: a multi-dataset transcriptomic perspective. 线粒体生物能量学失调,RNA加工和细胞应激反应在FUS-ALS:多数据集转录组学的观点。
IF 2.7 4区 医学
Neurological Sciences Pub Date : 2026-09-24 DOI: 10.1007/s10072-026-09412-7
Francisca Walden, Yasna Reihani, Austin Peters, Masood Sepehrimanesh
{"title":"Dysregulation of mitochondrial bioenergetics, RNA processing, and cellular stress responses in FUS-ALS: a multi-dataset transcriptomic perspective.","authors":"Francisca Walden, Yasna Reihani, Austin Peters, Masood Sepehrimanesh","doi":"10.1007/s10072-026-09412-7","DOIUrl":"10.1007/s10072-026-09412-7","url":null,"abstract":"<p><strong>Background: </strong>Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder characterized by motor neuron (MN) degeneration. Mutations in the FUS gene, particularly the aggressive P525L variant, disrupt nuclear localization of the FUS RNA-binding protein, resulting in cytoplasmic accumulation, altered RNA metabolism, and toxic aggregation. Astrocytes also contribute to disease progression through non-cell-autonomous mechanisms.</p><p><strong>Objective: </strong>To identify shared and cell-type-specific molecular mechanisms underlying FUS-associated ALS through integrated transcriptomic analysis of human induced pluripotent stem cell (hiPSC)-derived motor neurons and astrocytes.</p><p><strong>Methods: </strong>Five publicly available RNA-sequencing datasets from hiPSC-derived motor neurons and astrocytes carrying FUS mutations were analyzed. Differential gene expression and Gene Ontology enrichment analyses were performed to identify dysregulated genes and pathways.</p><p><strong>Results: </strong>Both cell types showed convergent dysregulation of mitochondrial/bioenergetic pathways (oxidative phosphorylation, ATP metabolism, translation, membrane potential). Pathway analysis across motor neuron datasets identified largely MN-specific enrichment in cell-cycle regulation, intracellular trafficking, and stimulus response, while only four pathways were shared with astrocytes, most notably NADH dehydrogenase complex assembly, enriched across all datasets and both cell types, marking mitochondrial complex I as the strongest convergent signature. RNA processing/splicing pathways were also enriched, consistent with FUS function. Shared DEGs included upregulated COMT, TXNRD2, and PCDHGB4, and downregulated PCDH17 and C11orf87, implicating neurotransmitter metabolism, antioxidant defenses, and adhesion. Stress pathways (oxidative stress, autophagy, heat-shock, ER stress/UPR) were broadly altered, with UPR genes mainly upregulated and inflammatory genes downregulated.</p><p><strong>Conclusion: </strong>FUS-ALS involves shared mitochondrial complex I and stress-response disturbances layered onto MN-intrinsic cell-cycle and trafficking dysregulation, reflecting convergent and cell-type-specific mechanisms.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 10","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149040010","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
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