Neurological Sciences最新文献

{"title":"Association between C9orf72 G4C2 repeat length and idiopathic Parkinson's disease in a Turkish cohort.","authors":"Ebru Erzurumluoglu Gokalp, Fatma Nazlı Durmaz Celik, Hulya Ozen, Sinem Kocagil, Uygar Kabaoglu, Oguz Cilingir, Beyhan Durak Aras, Serhat Ozkan, Sevilhan Artan","doi":"10.1007/s10072-026-09444-z","DOIUrl":"10.1007/s10072-026-09444-z","url":null,"abstract":"<p><strong>Background: </strong>Intermediate C9orf72 G4C2 repeat lengths have been proposed as potential modifiers of Parkinson's disease susceptibility; however, reported associations vary across populations and have not been evaluated in Turkish patients.</p><p><strong>Methods: </strong>This case-control study included 136 patients with idiopathic Parkinson's disease (PD) and 100 neurologically healthy controls from Türkiye. C9orf72 G4C2 repeat length was assessed by fragment length analysis and repeat-primed PCR. A prespecified, population-informed ≥ 8-repeat threshold, derived from prior haplotype evidence, was evaluated together with a local sensitivity analysis across ≥ 6-≥10 repeats.</p><p><strong>Results: </strong>No participant carried a pathogenic C9orf72 expansion (≥ 30 repeats). Repeat counts ranged from 2 to 13 in patients and 2 to 10 in controls. The overall repeat-length distribution did not differ between groups (p = 0.126), whereas the three-category genotype distribution differed between groups (p = 0.033). Carriers of at least one allele with ≥ 8 repeats were more frequent among patients than controls (32/136 [23.5%] vs. 12/100 [12.0%]; OR 2.256, 95% CI 1.097-4.643; p = 0.038). Across the ≥ 6-≥10 sensitivity window, point estimates remained above unity, although 95% confidence intervals excluded unity only at ≥ 7 and ≥ 8.</p><p><strong>Conclusions: </strong>A prespecified but exploratory ≥ 8-repeat carrier analysis showed higher odds of idiopathic PD, with a similar carrier signal observed at the adjacent ≥ 7 threshold. Together with the non-significant findings from the overall repeat-length distribution and continuous repeat-number analyses, these findings suggest a preliminary, threshold-sensitive susceptibility signal rather than a discrete PD-specific cutoff. Replication in larger independent cohorts with haplotype analysis, broader PD gene screening, and functional investigation is required.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 10","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149112503","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}

{"title":"Immune dysregulation and epileptogenesis.","authors":"Khatuna Dondoladze, Natia Kharati, Ketevan Phevadze","doi":"10.1007/s10072-026-09443-0","DOIUrl":"10.1007/s10072-026-09443-0","url":null,"abstract":"<p><p>The pathogenesis of epilepsy is thought to involve not only electrical imbalances but also autoantibodies, glial cells dysfunctions, cytokine signaling, and disruption of the blood-brain barrier. Autoimmune epilepsy is an immune-mediated neurological disorder caused by dysregulation of the immune system, leading to hyperexcitability of neural networks and epileptogenesis. This paper aimsto review the neuroimmunological mechanisms of autoimmune epilepsy, the processes of epileptogenesis, and modern diagnostic approaches. The role of blood-brain barrier damage, which allows autoantibodies and immune cells to enter the central nervous system, thereby contributing to neuroinflammation and disrupt ing synaptic transmission, is discussed. Particular attention is paid to functional changes in glial cells-astrocytes and microglia-including disruption of glutamate homeostasis, the action of proinflammatory cytokines (IL-1β, TNF-α, IL-6), and complement activation. The paper describes in detail the effects of autoantibodies on neuronal surface antigens, including NMDA, AMPA, and GABA receptors, as well as the LGI1 and CASPR2 complexes. These mechanisms lead to receptor internalization, impaired synaptic plasticity, loss of inhibitory control, and hyperexcitability of the neural network. Particular attention is paid to clinical and biochemical correlations, the phenotypic characteristics of specific autoantibodies, diagnostic challenges in seronegative autoimmune epilepsy, and cerebrospinal fluid markers. Further study of these mechanisms will not only contribute to a better understanding of the disease but also to the development of new antiepileptic and targeted immunotherapeutic strategies.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 10","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149112613","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}

{"title":"The close relationship between a rare disease and a common disease: Case report of a patient with gaucher disease and parkinsonism.","authors":"José Lucas Gomes Oliveira, Marcella Vieira Barroso Montenegro, Natsumi Miyazaki Fontoura, Saide Maria Sarmento Trindade, Ana Patrícia Barbosa Reis, Rosilene Ilma Ribeiro de Freitas, Alan Melo Dos Santos Silva, Bruno Lopes Dos Santos Lobato, Luiz Carlos Santana-da-Silva","doi":"10.1007/s10072-026-09427-0","DOIUrl":"10.1007/s10072-026-09427-0","url":null,"abstract":"<p><p>Gaucher disease (GD) is a lysosomal storage disorder caused by pathogenic variants in the GBA1 gene, which encodes glucocerebrosidase. GBA1 variants are also the most common genetic risk factor for Parkinson's disease (PD), although the penetrance of parkinsonism among carriers is incomplete. Patients with GD who develop parkinsonism may present an earlier onset and a more severe clinical course than individuals with sporadic PD. However, clinical data from underrepresented populations, including the Brazilian Amazon, remain scarce. We report the case of a 51-year-old woman from Belém, Pará, Brazil, diagnosed with GD type 1 and carrying the compound heterozygous GBA1 genotype p.N409S/p.L483P. The patient had been receiving substrate reduction therapy with miglustat when early parkinsonian manifestations were identified. Neurological examination revealed bradykinesia, rigidity of the left lower limb, and prominent postural and balance impairment, with an unstable gait and dysdiadochokinesia, in the absence of resting, kinetic, postural, or jaw tremor. Non-motor symptoms included sleep disturbances, paresthesia, and constipation. The clinical presentation was considered suggestive of an atypical parkinsonian phenotype, however, a definitive diagnosis of PD could not yet be established, and a levodopa trial is planned to evaluate treatment responsiveness and support diagnostic clarification. This case contributes clinical and molecular data on GBA1-associated parkinsonian manifestations from the Brazilian Amazon, an underrepresented population in genetic and clinical studies. The early and atypical motor phenotype, characterized by prominent postural and balance impairment without tremor, highlights the clinical heterogeneity of parkinsonism in the context of GD and GBA1 variants. The emergence of parkinsonian signs after prolonged substrate reduction therapy with miglustat also raises questions regarding the relationship between GD treatment and neurological outcomes, although no causal inference can be drawn from a single case. This case underscores the importance of longitudinal neurological surveillance and multidisciplinary follow-up of individuals with GD, while highlighting the need for further studies integrating genetic background, clinical phenotype, treatment exposure, and neurological progression.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 10","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149112668","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}

{"title":"Does sleep matter for recovery after stroke? Functional severity shapes the association between sleep and functional outcome during inpatient stroke rehabilitation.","authors":"Serena Scarpelli, Valentina Alfonsi, Maurizio Gorgoni, Erika Di Matteo, Natasha Manili, Ludovica Annarumma, Elisa Pellegrini, Camilla Mattei, Giovanni Morone, Mariella Pazzaglia, Luigi De Gennaro, Marco Iosa","doi":"10.1007/s10072-026-09374-w","DOIUrl":"https://doi.org/10.1007/s10072-026-09374-w","url":null,"abstract":"<p><strong>Background: </strong>Sleep disturbances are common after stroke and have been associated with rehabilitation outcomes. The clinical meaning of post-stroke sleep duration remains unclear, as longer sleep may be associated with different clinical and functional states, including greater disability. This exploratory study investigated the relationship between sleep and functional outcome during stroke rehabilitation, and the moderating role of baseline functional status.</p><p><strong>Methods: </strong>Twenty-nine patients with stroke underwent a 10-day longitudinal monitoring protocol during rehabilitation. Functional independence and motor performance were assessed at the beginning (T0) and the end (T1) of the observation period using the Barthel Index, 10-Meter Walk Test, and 9-Hole Peg Test. Sleep was assessed throughout the monitoring period using sleep diaries, and actigraphy .</p><p><strong>Results: </strong>Functional independence improved from T0 to T1, whereas motor performance did not significantly change. In unadjusted analyses, longer actigraphy-derived total sleep time and longer self-reported total time in bed were correlated with lower Barthel Index scores at T1. Moderation analyses adjusted for prior rehabilitation days showed that longer total sleep time was positively associated with Barthel Index at T1 only in patients with higher baseline independence, while longer time in bed was positively associated at average and higher baseline levels.</p><p><strong>Conclusions: </strong>The associations between sleep duration or time in bed and later post-rehabilitation functional independence vary according to baseline functional status. Given the small sample size and observational design, these findings should be interpreted cautiously and considered preliminary and hypothesis-generating.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 10","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13630849/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149112579","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}

{"title":"Dementia risk factors and biomarkers in subjective cognitive decline: real world evidence from the monza brain health service.","authors":"Federico Emanuele Pozzi, Francesca Solivani, Ilaria Vitagliano, Giovanni Isgrò, Giulia Remoli, Fatima Gabriela Macias Ortiz, Luca Cuffaro, Elisa Conti, Gessica Sala, Simona Andreoni, Chiara Paola Zoia, Valeria Cerina, Gianpaolo Basso, Lucio Tremolizzo, Ildebrando Appollonio, Carlo Ferrarese","doi":"10.1007/s10072-026-09426-1","DOIUrl":"10.1007/s10072-026-09426-1","url":null,"abstract":"<p><strong>Aims: </strong>Up to 45% of dementia can be prevented by addressing modifiable risk factors. Brain Health Services (BHS) are emerging across Europe, targeting individuals with subjective cognitive decline (SCD) to assess, communicate and reduce their risk of dementia. Our aim is to characterize our BHS cohort, and assess differences in clinical, biological, neuroimaging, and impact of biomarker disclosure based on plasma Lumipulse p-Tau217.</p><p><strong>Methods: </strong>We analyzed baseline data from 186 consecutive individuals seen at our BHS (132 SCD). Cumulative dementia risk was calculated using the total Lancet relative risk (RR). Participants were grouped in plasma Lumipulse p-Tau217 above and below 0.15 pg/mL (A + and A-). Cluster analysis was performed with k-means.</p><p><strong>Results: </strong>The most prevalent potentially modifiable factors among participants with SCD were sleep impairment, smoking, physical inactivity, and hypertension. A + SCD subjects (32%) were older and showed worse performance on cognitive screening tests (P_FDR < 0.05). A + SCD showed higher GFAP and neurodegeneration on visual scales (P_FDR < 0.05). Two clusters were identified, one with low modifiable and biological risk and high cognition, and another with high risk and lower cognition. Disclosure was well accepted, with no differences between A- and A + in depression and anxiety.</p><p><strong>Discussion: </strong>Our findings showed a high prevalence of modifiable risk factors in SCD. A+ individuals demonstrated biological and structural hallmarks of early neurodegeneration. Biomarker disclosure was feasible, reflecting the potential benefits of transparent risk communication. These findings support incorporating plasma biomarkers and structured disclosure protocols in BHS, complementing multimodal prevention strategies to delay dementia onset.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 10","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13624042/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149081702","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}

{"title":"Efficacy of transcranial alternating current stimulation on cognitive function in patients with dementia: a systematic review and meta-analysis of randomized controlled trials.","authors":"Ying Tang, Yunhang Wang, Wenyuan Li, Rong Su, Tian Gao, Yuxia Ma","doi":"10.1007/s10072-026-09406-5","DOIUrl":"10.1007/s10072-026-09406-5","url":null,"abstract":"<p><strong>Background: </strong>Transcranial alternating current stimulation (tACS) has shown potential for improving cognitive function in dementia, but evidence remains inconsistent. This systematic review and meta-analysis aims to evaluate the efficacy of tACS on cognitive function in dementia.</p><p><strong>Methods: </strong>We searched seven databases for randomized controlled trials (RCTs) assessing tACS effects on cognitive function in dementia. Two reviewers independently screened the literature, extracted data, and assessed study quality. A random-effects model was used to calculate standardized mean differences (SMDs) with 95% confidence intervals (CIs). GRADE was used to rate evidence quality.</p><p><strong>Results: </strong>A total of 9 RCTs involving 357 patients with dementia were included. Compared with sham stimulation, tACS significantly improved immediate global cognition (SMD = 0.28; 95% CI [0.01, 0.54]; p = 0.04, I² = 39%), but not at follow-up. tACS also significantly improved immediate recall, delayed recall, and associative memory. Additionally, tACS significantly enhanced cholinergic transmission as measured by short-latency afferent inhibition (MD = 0.34, p < 0.001, I² = 0%). However, no significant effect was observed for neuropsychiatric symptoms, and the evidence for executive function was inconclusive. No serious adverse events occurred.</p><p><strong>Conclusion: </strong>tACS may improve immediate global cognition and memory in patients with dementia, but no significant benefit was observed at follow-up or for neuropsychiatric symptoms. Findings are limited by few studies, heterogeneous parameters, and insufficient follow-up data. Future large, well-designed RCTs with standardized protocols are needed to optimize tACS parameters and confirm sustained efficacy.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 10","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149081632","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}

{"title":"Combined repetitive transcranial magnetic stimulation and mirror therapy for upper limb rehabilitation in stroke survivors: A systematic review and meta-analysis.","authors":"Anas R Alashram","doi":"10.1007/s10072-026-09437-y","DOIUrl":"10.1007/s10072-026-09437-y","url":null,"abstract":"<p><p>Upper limb impairments are among the most prevalent consequences of stroke. Recently, repetitive transcranial magnetic stimulation (rTMS) and mirror therapy (MT) have been used in stroke rehabilitation. This systematic review aims to examine the effects of combining rTMS and MT on the upper limb in patients with stroke and define the optimal treatment parameters, if possible. \"PubMed, MEDLINE, Scopus, CINAHL, PEDro, EMBASE, REHABDATA, and Web of Science\" were searched until March 2026. Randomized controlled trials evaluating the effectiveness of combined rTMS and MT on the upper limb poststroke were included. The Cochrane Risk of Bias 2 (RoB 2) and the GRADE were employed to evaluate risk of bias and certainty of evidence, respectively. Meta-analysis and subgroup analysis were performed. Seven RCTs (402 participants) met the inclusion criteria. Significant improvements in the Fugl-Meyer Assessment for Upper Extremity (FMA-UE) (SMD = 0.92, 95% CI: 0.43-1.41, p = 0.0002) and the Box and Block Test (BBT) (SMD = 1.09, 95% CI: 0.49-1.68, p = 0.0003) were reported. Other outcomes demonstrated improvements in pinch grip, hand grip, functional performance, motor impairment, and muscle tone. The preliminary findings suggest that combining rTMS and MT has potential effects on enhancing upper limb function poststroke; however, these results should be interpreted with caution. The most effective treatment parameters remain unclear. Further high-quality studies are warranted.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 10","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149081709","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}

{"title":"Systolic blood pressure targets after successful endovascular thrombectomy: a network meta-analysis of randomized controlled trials.","authors":"Jiarong Zhu, Mu He, Yuyan Lu, Liang Zhou, Guirong Dong","doi":"10.1007/s10072-026-09418-1","DOIUrl":"10.1007/s10072-026-09418-1","url":null,"abstract":"<p><strong>Background: </strong>Uncertainty persists regarding the optimal systolic blood pressure (SBP) target after thrombectomy, as systemic blood pressure may affect the penumbra and associated microcirculatory perfusion. We evaluated the impact of different SBP targets on outcomes and the dose-response relationship between actual 24-hour mean SBP and functional outcomes.</p><p><strong>Methods: </strong>We systematically reviewed studies comparing SBP targets after thrombectomy. Bayesian network meta-analysis assessed functional independence and safety. Multi-threshold sensitivity analyses tested the proportional odds assumption across disability levels. Study-level meta-regression explored the association between 24-hour mean SBP and functional outcomes.</p><p><strong>Results: </strong>Eight studies were included. The < 180 mmHg target ranked highest for functional independence (SUCRA = 87.3% (50.0%-100.0%)), while < 140 mmHg (SUCRA = 26.3%, OR = 1.65 (1.03-2.54)) and < 120 mmHg (SUCRA = 17.7%, OR = 1.75 (1.14-2.71)) were associated with worse outcomes, and the certainty of the evidence was high. No significant differences in symptomatic intracranial hemorrhage or 90-day mortality were observed. Among six study-level comparisons, five violated the proportional odds assumption, indicating effect heterogeneity across disability levels.An exploratory group-level meta-regression showed that, within the observed range of 117-139 mmHg, higher actual SBP was associated with a higher odds ratio for functional independence at the study group level (OR = 1.028 (1.015-1.041)).</p><p><strong>Conclusions: </strong>After successful recanalization, clinicians should avoid excessive SBP reduction. Future studies should consider reperfusion status, the burden of ischemic injury, and tissue perfusion to determine individualized blood pressure targets.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 10","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149081637","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}

{"title":"The effects of dual-task training with different task priorities on physical performance and cognitive status in patients with Parkinson's disease: a single-blind, randomized controlled trial.","authors":"Elvan Özcan Gülşen, Fatih Söke, Çağrı Gülşen, Hatice Ayşe Tokçaer Bora, Öznur Tunca","doi":"10.1007/s10072-026-09442-1","DOIUrl":"10.1007/s10072-026-09442-1","url":null,"abstract":"<p><p>Two strategies have been identified for dual-task training (DTT). These strategies are \"variable-priority\" DTT (V-DTT) and\"fixed-priority\" DTT (F-DTT). However, no study compared this DTT methods in patients with Parkinson's disease (PwPD). This study was planned to investigate the effects of V-DTT and F-DTT on physical performance, cognitive status and daily life in PwPD. 30 PwPD randomly allocated to V-DTT, F-DTT or single-task training (STT) groups. All groups received 60-minute training, two-times per week for 6-weeks. Physical performance, cognitive skills and activities of daily living (ADL) were evaluated before and after the training. All groups showed significant improvements in motor symptoms (MS), clinical symptoms (CS), functional balance (FB), stability limits (SL), static and dynamic balance (SB, DB), walking speed (WS), complex and backward walking skills (CWS, BWS), functional mobility (FM), ADL, and kinesiophobia. However, only DTT groups showed improvements in executive functions (EF), attention, verbal fluency (VF) and dual-tasking ability (DTA). Moreover, only V-DTT showed improvements in processing speed (PS). When the three groups were compared, the order of improvements in MS, SL, DB, WS, CWS, FM, EF, attention, VF, and ADL were as follows: V-DTT=F-DTT>STT. The order of improvements in FB, SB, and DTA was as follows: V-DTT>F-DTT>STT. The order of improvements in BWS and kinesiophobia was as follows: V-DTT=F-DTT=STT. V-DTT is more beneficial in some motor functions, especially in static situations, and in some cognitive functions. V-DTT also positively affected the PwPDs' DTA in ADL.Clinical trial registry: NCT06794177, 21 January 2025, retrospectively registered.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 10","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149081695","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}

{"title":"Transcutaneous auricular vagus nerve stimulation improves dysautonomia in patients with hypermobile Ehlers-Danlos syndrome.","authors":"Eric Azabou, Guillaume Bao, Amelie Pillot, Sara Mehlal, Eugenie Valdenaire, Camille Jarnet, Fabrice Gillas, Marine Zagdoun, Baptiste Vierne, Claire-Marie Rangon, Karelle Benistan","doi":"10.1007/s10072-026-09420-7","DOIUrl":"10.1007/s10072-026-09420-7","url":null,"abstract":"<p><strong>Background: </strong>Autonomic nervous system dysfunction is highly prevalent in hypermobile Ehlers-Danlos syndrome (hEDS) and contributes substantially to multisystem symptoms and reduced quality of life. Neuroimmune dysregulation and chronic low-grade inflammation are increasingly recognized as key mechanisms underlying these manifestations. Transcutaneous auricular vagus nerve stimulation (taVNS) may restore autonomic balance and engage the cholinergic anti-inflammatory pathway.</p><p><strong>Methods: </strong>In this prospective, single-center, open-label pilot study, fourteen consecutive female patients with hEDS and disabling dysautonomia (Composite Autonomic Symptom Score-31 [COMPASS-31] > 20) underwent weekly 60-minute taVNS sessions for eight weeks. Autonomic symptoms were assessed weekly using COMPASS-31. Quality of life was evaluated at baseline and week 8 using the 36-Item Short-Form Health Survey (SF-36).</p><p><strong>Results: </strong>taVNS was well tolerated, with no serious adverse events. The mean COMPASS-31 total score decreased significantly from 44.6 ± 12.7 at baseline to 28.3 ± 15.4 at week 8 (- 36.5%, p < 0.001). Significant improvements were observed in orthostatic intolerance, gastrointestinal, vasomotor, and secretomotor domains. The SF-36 total score increased by 27.7% (p = 0.07), with statistically significant improvements in physical functioning, physical role, bodily pain, general health, and vitality.</p><p><strong>Conclusions: </strong>In this pilot study, taVNS was safe and associated with clinically meaningful improvements in dysautonomia in patients with hEDS. These findings support further randomized controlled studies incorporating objective autonomic and neuroimmune biomarkers.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 10","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149070074","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}