Journal of Neurology最新文献

{"title":"MOGAD-related epilepsy: a systematic characterization of age-dependent clinical, fluid, imaging and neurophysiological features.","authors":"Martina Rubin, Gianni Cutillo, Vittorio Viti, Monica Margoni, Paolo Preziosa, Chiara Zanetta, Anna Bellini, Lucia Moiola, Giovanna Franca Fanelli, Maria Assunta Rocca, Massimo Filippi","doi":"10.1007/s00415-025-13245-3","DOIUrl":"https://doi.org/10.1007/s00415-025-13245-3","url":null,"abstract":"<p><strong>Background: </strong>Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) is a rare central nervous system (CNS) demyelinating disease presenting heterogeneously across lifespan. Although frequent, epilepsy remains a poorly characterized MOGAD-associated manifestation.</p><p><strong>Methods: </strong>To describe age-related clinical, fluid, imaging, and neurophysiological features in MOGAD patients with epilepsy, we systematically reviewed online repositories up to April 2025, identifying 178 eligible studies.</p><p><strong>Results: </strong>A total of 2487 MOGAD patients were included from clinical studies, and of 337 from case reports/series, 140 with adult-onset and 197 with pediatric-onset disease. Seizures prevalence was 30.6% (95% confidence interval [95%CI] = 28%; 33.3%) in pediatric-onset and 7% (95%CI = 4.1%; 11.2%) in adult-onset cohorts. Pediatric-onset patients were significantly more likely to be female (p = 0.003). Cortical encephalitis was the most common presentation in both age groups, followed by acute demyelinating encephalomyelitis in pediatric-onset and acute demyelinating syndrome in adult-onset patients. In both groups, epileptic manifestations predominantly occurred at disease onset. Pediatric-onset patients were more likely to experience status epilepticus (p = 0.005) and encephalopathy (p = 0.002), whereas adult-onset exhibited higher frequency of cerebrospinal fluid pleocytosis (p < 0.001). Co-positivity with antibodies related to other encephalitides was present in 37.3% of patients, most commonly with anti-N-methyl-D-aspartate receptor (anti-NMDAR) IgG (88.3%), showing no age-dependent differences. No significant age-related differences were observed in leptomeningeal enhancement. Adult-onset patients more frequently showed parietal lobe involvement (p = 0.018) and fewer temporal lobe lesions (p = 0.004) compared to pediatric-onset. Despite comparable use of immunotherapy and anti-seizure medications across groups, chronic epilepsy was more prevalent among pediatric-onset patients (p < 0.001).</p><p><strong>Conclusions: </strong>Epilepsy is a relevant MOGAD-associated condition with a risk of chronic persistence. Prospective studies are warranted to establish an age-specific therapeutic approach.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 8","pages":"508"},"PeriodicalIF":4.8,"publicationDate":"2025-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144637311","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Brain functional connectivity changes in amyotrophic lateral sclerosis with apathy and depression.","authors":"Veronica Castelnovo, Elisa Canu, Silvia Basaia, Edoardo Gioele Spinelli, Fabiola Freri, Paride Schito, Tommaso Russo, Yuri Falzone, Federico Verde, Silvia Torre, Barbara Poletti, Lucio Tremolizzo, Ildebrando Appollonio, Nicola Ticozzi, Vincenzo Silani, Massimo Filippi, Federica Agosta","doi":"10.1007/s00415-025-13247-1","DOIUrl":"10.1007/s00415-025-13247-1","url":null,"abstract":"<p><strong>Background: </strong>Apathy and depression are the most prevalent neuropsychiatric symptoms in amyotrophic lateral sclerosis (ALS). Although insufficiently investigated, their distinction holds important clinical relevance for accurate diagnosis of ALS with behavioural impairment and for patients' prognosis and management. In the present study, we aimed to assess both apathy and depressive symptoms in patients with ALS and whether they have similar or different functional neural correlates.</p><p><strong>Methods: </strong>Using graph analysis and connectomics, global and lobar nodal properties and regional functional brain connectivity were assessed in ALS patients without apathy/depression (ALSn, n = 42), with apathy without depression (ALSa, n = 14), with depressive symptoms without apathy (ALSd, n = 20), and with apathy and depressive symptoms (ALSad, n = 6), and 46 healthy controls. Correlations between brain functional properties, apathy and depressive symptoms were performed in all patients.</p><p><strong>Results: </strong>Depressive symptoms were related with reduced path length within bilateral basal ganglia (BG) network, and apathy was related with increased path length, decreased nodal strength and local efficiency within left BG network. ALSa patients showed altered functional nodal properties within BG network compared to ALSn and ALSd. Compared to healthy controls and all non-apathetic patients (ALSn and ALSd), all apathetic patients (ALSa and ALSad) exhibited altered functional nodal properties within parietal, occipital and frontal networks. Non-apathetic patients, compared to apathetic patients, showed relatively preserved functional nodal properties in the BG network.</p><p><strong>Conclusions: </strong>Our findings indicate differences in brain functional neural organization associated with apathy and depression, underscoring the importance of distinguishing these symptoms in ALS and highlighting the need for targeted interventions.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 8","pages":"509"},"PeriodicalIF":4.8,"publicationDate":"2025-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12259760/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144637310","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correction: Refining the clinical and therapeutic spectrum of granulomatous myositis from a large cohort of patients.","authors":"Antonio Lauletta, Laurène de Le Hoye, Sarah Leonard-Louis, Matteo Garibaldi, Yves Allenbach, Olivier Benveniste","doi":"10.1007/s00415-025-13020-4","DOIUrl":"https://doi.org/10.1007/s00415-025-13020-4","url":null,"abstract":"","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 8","pages":"505"},"PeriodicalIF":4.8,"publicationDate":"2025-07-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144618638","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"VEXAS syndrome-associated tumefactive demyelination.","authors":"Tiffany Eatz, Sakir Humayun Gultekin, Namrata Sonia Chandhok, Kristine H O'Phelan, Sebastian Koch","doi":"10.1007/s00415-025-13239-1","DOIUrl":"10.1007/s00415-025-13239-1","url":null,"abstract":"<p><strong>Introduction: </strong>Vacuoles, E1 enzyme, X-linked (Xp11.3), autoinflammatory, somatic (VEXAS) syndrome is a novel acquired disorder of adulthood, discovered in 2020. Neurological symptoms and sequelae of this new disease are underreported and rarer than their systemic counterparts. We aim to shed light upon the neurological manifestations of this disease by reporting a complex case of a 58-year-old male with a biopsy supporting tumefactive demyelination in the setting of VEXAS syndrome.</p><p><strong>Case report: </strong>A 58-year-old male with a history of VEXAS syndrome (diagnosed in 2020 as only myelodysplastic syndrome (MDS)), diabetes mellitus, and relapsing polychondritis presented to our institution's emergency department with an acute onset of right lower extremity weakness and headache in April 2022. His weakness progressed to right lower extremity hemiparesis with extinction in sensory modality. He was evaluated for acute stroke, with initial differential diagnosis favoring acute venous infarct from cerebral venous thrombosis (CVT) secondary to MDS. However, brain magnetic resonance imaging (MRI) suggested tumefactive demyelination or acute disseminated encephalomyelitis (ADEM) with a left parietal focus, and diagnostic catheter cerebral angiogram found no evidence of CVT. The patient then developed partial status epilepticus without a history of seizures and later became obtunded with global aphasia upon eventual awakening. Subsequent MRI substantiated tumefactive demyelination or glioma. The lesion was biopsied, displaying no neoplastic cells, supporting diagnosis of tumefactive demyelination. The patient received 1 g of daily solumedrol for 5 days and a few months of prednisone taper, with resolution of mental status despite persistence of right-sided hemiplegia and global aphasia. In March 2023, the patient's genetic testing revealed a UBA1 gene mutation, solidifying a diagnosis of VEXAS syndrome. At this time, the patient exhibited Broca's aphasia with intact comprehension. He was neurologically stable in a wheelchair.</p><p><strong>Conclusion: </strong>To our knowledge, this case is the first reported in the literature of a VEXAS syndrome-associated central demyelination. Further research into the molecular mimicry and pathogenesis of VEXAS syndrome and its neurobiological involvement is strongly encouraged. A growing body of literature will increase comprehension of this novel disease and its role in cerebral pathology.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 8","pages":"506"},"PeriodicalIF":4.8,"publicationDate":"2025-07-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12255579/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144618640","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Key to better outcomes in stroke intervention: early versus complete reperfusion in first pass recanalization.","authors":"Alexander Heitkamp, Sophie-Maria Hierholzer, Christian Heitkamp, Laurens Winkelmeier, Lukas Meyer, Matthias Bechstein, Vincent Geest, Gabriel Broocks, Caspar Brekenfeld, Fabian Flottmann, Maximilian Schell, Götz Thomalla, Tobias Faizy, Jens Fiehler, Helge C Kniep, Susanne Gellißen","doi":"10.1007/s00415-025-13235-5","DOIUrl":"10.1007/s00415-025-13235-5","url":null,"abstract":"<p><strong>Background and purpose: </strong>First pass (FP) recanalization, defined as achieving mTICI 2b or higher in a single thrombectomy attempt, has been linked to better functional recovery in acute ischemic stroke patients. This study aimed to investigate whether the benefits of FP are primarily driven by higher rates of complete reperfusion (mTICI 3) or by faster procedure times.</p><p><strong>Methods: </strong>Data from 3707 patients with middle cerebral artery occlusion and successful recanalization (mTICI 2b or higher) were extracted from the prospectively designed German Stroke Registry (2015-2021). Good functional outcomes were defined as a modified Rankin Scale (mRS) score of ≤ 2 at 90 days. Mediation analysis was used to evaluate the extent to which complete reperfusion (mTICI 3) and shorter groin puncture to recanalization time contributed to improved outcomes.</p><p><strong>Results: </strong>FP recanalization was associated with significantly better functional outcomes: 46.9% of FP patients achieved an mRS ≤ 2 compared to 37.2% in the multi-pass group. Mediation analysis showed that only 14% of the improved outcomes with FP were explained by higher mTICI 3 rates, while 37% were attributed to faster recanalization times.</p><p><strong>Conclusion: </strong>The improved outcomes associated with FP recanalization are primarily driven by the speed of reperfusion rather than the degree of complete recanalization. This highlights the importance of minimizing procedure times and the number of thrombectomy attempts. Strategies aimed at optimizing treatment workflows and improving device design to prioritize early and efficient reperfusion after the FP are critical to improving patient outcomes (ClinicalTrials.gov identifier: NCT03356392).</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 8","pages":"504"},"PeriodicalIF":4.8,"publicationDate":"2025-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12254091/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144618639","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Analysis of the Italian cohort of late-onset Pompe disease (LOPD) patients after 10 and 15 years of therapy with alglucosidase alfa.","authors":"T Mongini, G Gadaleta, P Alonge, L Vercelli, I Stura, O Musumeci, S Ravaglia, L Ruggiero, A Fiumara, R Barone, S Servidei, C Sancricca, G Siciliano, G Ricci, A Sechi, P Tonin, E Pegoraro, M Filosto, G D'Angelo, G Comi, L Maggi, A Barp, G Crescimanno, A Toscano","doi":"10.1007/s00415-025-13206-w","DOIUrl":"10.1007/s00415-025-13206-w","url":null,"abstract":"<p><strong>Background and objectives: </strong>Late-onset Pompe disease (LOPD) is the first genetic neuromuscular disease treated with enzyme replacement therapy (ERT) in 2006, with variable results over time. This study aimed to assess therapeutic efficacy and safety in a large national cohort of patients after 10 and 15 years of treatment with alglucosidase alfa, all of them regularly evaluated in expert Centers.</p><p><strong>Methods: </strong>This retrospective study analyzed data from 15 Italian Centers, examining clinical-genetic features and motor and respiratory outcomes at baseline, 10 years (T10, n = 85), and 15 years (T15, n = 42) after ERT initiation. Patients were categorized by baseline 6-min walk test (6MWT: 1: < 150 m, 2: 150-299 m, 3: 300-449 m, 4: ≥ 450 m) or forced vital capacity (FVC: 0: < 80%, 1: ≥ 80%) to assess outcome differences based on initial functional status.</p><p><strong>Results: </strong>All patients were ambulant at baseline. Motor performance, assessed by 6MWT, declined across all functional groups, but even the lowest-performing patients at baseline (Groups 1-2) were mostly ambulant by T15 (50% and 71% respectively). In the best performing patients at baseline (Group 4), subjects maintained quite high performance values also at T15, with a statistically significant decrement observed at T10, and a stabilization at T15; none of them lost ambulation at T15. Despite an overall FVC% reduction, 21/42 patients (50%) remained ventilator-free at T15. No ERT discontinuations or significant adverse events were reported.</p><p><strong>Conclusion: </strong>Alglucosidase alfa therapy showed variable results in a long-term perspective, confirming a reduction in mortality in all functional groups, and stabilization in several patients, without relevant safety concerns. Motor and respiratory function responses varied by functional groups and in single patients, underscoring the need for additional outcome measures. These long-term results will be useful for comparing the possible prolonged efficacy of the new therapies for Pompe disease.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 8","pages":"503"},"PeriodicalIF":4.8,"publicationDate":"2025-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144608572","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effects of influenza vaccination on neurodegenerative and demyelinating disorders: a systematic review and meta-analysis.","authors":"Jiaxin Chen, Wenkai Zhou, Mengting Cen, Can Chen, Kexin Cao, Mengsha Chen, Rongrong Qu, Jiani Miao, Jiaxing Qi, Xiaoyue Wu, Huihui Zhang, Qianqian Feng, Anqi Dai, Jingtong Zhou, Nani Xu, Xiaowei Hu, Shigui Yang","doi":"10.1007/s00415-025-13238-2","DOIUrl":"10.1007/s00415-025-13238-2","url":null,"abstract":"<p><strong>Background: </strong>Previous studies have highlighted potential associations between influenza vaccination (IV) and neurological outcomes, particularly neurodegenerative disorders (NDs) and demyelinating disorders (DDs). However, the existing evidence remains inconclusive. Given the widespread global uptake of IV, even small potential effects may carry important public health implications. Therefore, a comprehensive synthesis of current evidence is essential to clarify these associations and inform evidence-based vaccination strategies.</p><p><strong>Objective: </strong>This study aimed to systematically examine the associations between IV and NDs as well as DDs.</p><p><strong>Methods: </strong>We systematically searched PubMed, Embase, Scopus, and Web of Science from database inception to November 30, 2024, to identify relevant studies. Studies meeting predefined were selected for analysis, followed by data extraction and quality assessment. Pooled odds ratio (ORs) and 95% confidence intervals (CIs) were calculated using a random-effects model. Subgroup analyses were performed by population characteristics and study features, and sensitivity analyses were conducted to test the robustness of results.</p><p><strong>Result: </strong>A total of 64 studies were included in the analysis (22 on NDs and 44 on DDs), comprising 5,679,964,431 participants were included. IV was associated with a reduced risk of NDs (OR = 0.85, 95% CI 0.75-0.98). Subgroup analyses showed a stronger protective effect against NDs among individuals with chronic comorbidities (OR = 0.66, 95% CI 0.63-0.69) and older adults (OR = 0.83, 95% CI 0.69-0.99), with the protective effect increasing with age. For DDs, IV was associated with an increased risk of DDs (OR = 1.61, 95% CI 1.22-2.12). Elevated risks were primarily observed in earlier studies (OR = 2.15, 95% CI 1.23-3.77) and in populations who received pandemic influenza vaccines (OR = 2.03, 95% CI 1.44-2.86). However, no statistically significant association between influenza vaccination and DDs was found in studies conducted after 2010 (OR = 1.13, 95% CI 0.90-1.41). Sensitivity analyses confirmed the robustness of these findings, and no significant publication bias was detected.</p><p><strong>Conclusion: </strong>IV was associated with a reduced risk of NDs, particularly among older adults and individuals with chronic comorbidities. Although an increased risk of DDs was observed in earlier studies and among recipients of pandemic IV, no significant association was found in studies conducted over the past decade. Given the protective benefits of IV against both influenza itself and NDs in elderly individuals and those with chronic health conditions, expanding IV coverage in these vulnerable groups is strongly recommended.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 8","pages":"499"},"PeriodicalIF":4.8,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144600736","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Late-onset cerebellar ataxia in three European patients with repeat expansions in RFC1 and FGF14: a case series.","authors":"Armand Hocquel, David Pellerin, Jean Loup Méreaux, Vincent Huin, Marios Hadjivassiliou, Guillemette Clément, Felipe Villa, Salomé Puisieux, Solène Frismand, Marion Wandzel, Virginie Roth, Anna Wissocq, Thomas Wirth, Matt C Danzi, Isabelle Quadrio, Stephan Zuchner, Laetitia Lambert, Fanny Mochel, Matthis Synofzik, Mathieu Anheim, Henry Houlden, Alexis Brice, Carine Pourié, Bernard Brais, Céline Bonnet, Alexandra Durr, Mathilde Renaud","doi":"10.1007/s00415-025-13234-6","DOIUrl":"https://doi.org/10.1007/s00415-025-13234-6","url":null,"abstract":"","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 8","pages":"500"},"PeriodicalIF":4.8,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144600739","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hemifacial spasm: an update on pathophysiology, investigations and management.","authors":"Aaron Jesuthasan, Ammar Natalwala, Indran Davagnanam, Tabish Saifee, Ludvic Zrinzo","doi":"10.1007/s00415-025-13220-y","DOIUrl":"10.1007/s00415-025-13220-y","url":null,"abstract":"<p><p>Hemifacial spasm (HFS) is characterized by involuntary, paroxysmal contractions of muscles innervated by the facial nerve that can lead to a negative impact on daily activities, including reading or driving, as well as psychosocial well-being. HFS remains a clinical diagnosis with characteristic features, however investigations can be immensely helpful. MRI, particularly heavily weighted T2 high-resolution sequences, continues to be invaluable to assess for structural abnormalities, including the presence of neurovascular conflict (NVC) in the cerebellopontine angle. The NVC, as well as its mechanistic roles in HFS, has been better characterized in recent studies, as will be summarized in this update. We will highlight the importance of MRI reporting, as false negatives may lead to delays in neurosurgical referral, while over-reporting of incidental findings can lead to inappropriate intervention and/or treatment failure. This point is reinforced by findings from recent studies, which advocate for the use of 3D techniques to further improve MRI reporting and ultimately patient outcomes. Moreover, recent investigations have shown that botulinum toxin and microvascular decompression are highly effective treatment options for HFS and additionally suggest factors that may further influence the outcomes with these interventions. The recent use of pulse radiofrequency ablation and electroacupuncture may provide alternative avenues of treatment, alongside oral medications, that can be used in HFS but require significant refinement to improve their overall efficacy, durability and safety.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 8","pages":"502"},"PeriodicalIF":4.8,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12245930/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144608573","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluating finger-prick blood collection for remote quantification of neurofilament light in neurological diseases.","authors":"Annabelle Coleman, Alexiane Touzé, Mena Farag, Marta Pengo, Michael J Murphy, Yara Hassan, Olivia Thackeray, Kate Fayer, Sophie Field, Mitsuko Nakajima, Elizabeth L Broom, Nicola Z Hobbs, Brook Huxford, Natalie Donkor, Ellen Camboe, Kamalesh C Dey, Alexandra Zirra, Aisha Ahmed, Ana Rita Gameiro Costa, Harriet Sorrell, Luca Zampedri, Vittoria Lombardi, Charles Wade, Sean Mangion, Batoul Fneich, Amanda Heslegrave, Henrik Zetterberg, Rachael Scahill, Alastair Noyce, Andrea Malaspina, Jeremy Chataway, Sarah J Tabrizi, Lauren M Byrne","doi":"10.1007/s00415-025-13232-8","DOIUrl":"10.1007/s00415-025-13232-8","url":null,"abstract":"<p><p>Promising blood-based biomarkers of neuropathology have emerged with potential for therapeutic development and disease monitoring. However, these tools will require specialist tertiary services for integration into clinical management. Remote sampling for biomarker assessment could reduce burden of in-person clinical visits for such tests as well as increasing the sampling frequency and patient geographical outreach. Here, we evaluated a finger-prick blood collection approach for remote quantification of neurofilament light (NfL), a candidate blood-based biomarker evident in various neurological disorders, and other exploratory markers of neuronal injury and neuroinflammation (GFAP, tau). Matched samples from venepuncture and finger-prick were collected and processed into plasma and/or serum to directly compare analyte levels from a multi-disease discovery cohort (n = 54 healthy controls; n = 57 Huntington's disease (HD); n = 34 multiple sclerosis; n = 7 amyotrophic lateral sclerosis; n = 11 Parkinson's disease), and a HD confirmatory cohort (n = 57 healthy controls; n = 64 HD). Two delayed processing conditions were compared, three- and seven-day delay, simulating ambient shipment. Capillary NfL and GFAP concentrations were equivalent to those in venous serum and plasma in the multi-disease discovery cohort and HD confirmatory cohort. Only NfL remained stable after a seven-day processing delay in both venous and capillary serum samples. Using NfL concentrations from capillary blood, we replicated previously published disease group differences measured in venous blood. This data supports our finger-prick approach for remote collection and quantification of NfL. With the widespread applications for NfL across the spectrum of neurological disorders, this has the potential to transform disease monitoring, prognosis, and therapeutic development within clinical practice and research.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 8","pages":"501"},"PeriodicalIF":4.8,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12245952/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144600737","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}