Journal of Neurology最新文献

{"title":"Application of the anti-IgLON5 disease composite score to assess severity, clinical course, and mortality in a French cohort.","authors":"Antonio Farina, Macarena Villagrán-García, Amna Abichou-Klich, Marie Benaiteau, Emilien Bernard, Lucia Campetella, Florent Cluse, Virginie Desestret, Pauline Dumez, Nicole Fabien, David Goncalves, Sergio Muñiz-Castrillo, Géraldine Picard, Anne-Laurie Pinto, Véronique Rogemond, Alberto Vogrig, Bastien Joubert, Jérôme Honnorat","doi":"10.1007/s00415-025-13001-7","DOIUrl":"10.1007/s00415-025-13001-7","url":null,"abstract":"<p><p>Anti-IgLON5 disease presents with diverse symptoms, whose severity can be measured by the anti-IgLON5 disease composite score (ICS). This study applied the ICS to a retrospective anti-IgLON5 disease cohort (n = 52; median age 72 years, 63% male) diagnosed in the French Reference Center on Autoimmune Encephalitis (2016-2024), aiming to describe severity and clinical course, and to assess its potential to predict mortality. At diagnosis, the ICS distribution (median 18) aligned with previous publications and correlated with the time to diagnosis (median 19 months); all patients had symptoms in ≥ 2 ICS domains: bulbar (88%), sleep (84%), movement disorders (90%), cognition (64%), and/or other (78%). Of 46 patients with follow-up data, 7 (16%) died shortly after diagnosis; for the others, changes in the ICS mirrored the clinical course: at last visit, it decreased in improving patients (16/46, 35%; median 12 vs 17; p = 0.004), increased in worsening patients (11/39, 24%; median 26 vs 21; p = 0.006) and did not change significantly in stable patients (12/46, 26%; median 16 vs 15; p = 0.222). In the ROC analyses, 2-year mortality was predicted by the total ICS at diagnosis (AUC 69.51, 95% CI [50.19; 88.83]; optimal cut-off > 20, sensitivity 59%, specificity 77%), and by the bulbar score at diagnosis (AUC 74.68, 95% CI [56.17, 93.19]; optimal cut-off > 3, sensitivity 83%, specificity 62%). The ICS is a reproducible tool for assessing anti-IgLON5 disease severity and clinical course. Higher total and bulbar ICS at diagnosis are associated with increased mortality risk, underscoring the need for early and intensive management of bulbar dysfunction.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 4","pages":"273"},"PeriodicalIF":4.8,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11922985/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143663760","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":"Safety and efficacy of chronic weekly rozanolixizumab in generalized myasthenia gravis: the randomized open-label extension MG0004 study.","authors":"Vera Bril, Artur Drużdż, Julian Grosskreutz, Ali A Habib, Henry J Kaminski, Renato Mantegazza, Sabrina Sacconi, Kimiaki Utsugisawa, Tuan Vu, Marion Boehnlein, Maryam Gayfieva, Bernhard Greve, Franz Woltering, John Vissing","doi":"10.1007/s00415-025-12958-9","DOIUrl":"10.1007/s00415-025-12958-9","url":null,"abstract":"<p><strong>Background: </strong>In the Phase 3 MycarinG study (NCT03971422), six once-weekly subcutaneous infusions of rozanolixizumab significantly improved myasthenia gravis (MG)-specific outcomes versus placebo in patients with acetylcholine receptor or muscle-specific tyrosine kinase autoantibody-positive generalized MG (gMG). Following completion of MycarinG, patients could enroll in the open-label extension MG0004 study (NCT04124965) to receive chronic weekly rozanolixizumab.</p><p><strong>Methods: </strong>Patients were re-randomized 1:1 to once-weekly rozanolixizumab 7 or 10 mg/kg for up to 52 infusions. The primary endpoints were the occurrence of treatment-emergent adverse events (TEAEs) and TEAEs leading to rozanolixizumab discontinuation. After ≥6 visits/infusions patients could switch to the MG0007 study (NCT04650854) to receive cyclic rozanolixizumab treatment.</p><p><strong>Results: </strong>In MG0004, 70 patients received rozanolixizumab 7 mg/kg (n = 35) or 10 mg/kg (n = 35). Mean treatment duration was 22.9 and 23.7 weeks, respectively, due to rollover into MG0007. TEAEs were reported in 60/70 (85.7%) patients; most were mild/moderate. The most frequently reported TEAEs were headache (25/70 [35.7%]), diarrhea (13/70 [18.6%]) and decreased blood immunoglobulin G (11/70 [15.7%]). There were no opportunistic, serious or severe infections, serious or severe hypersensitivity or injection-site reactions, any anaphylactic reactions or albumin or lipid abnormalities. Maximum mean reduction from baseline in MG Activities of Daily Living score was 3.1 in the 7 mg/kg group and 4.1 in the 10 mg/kg group.</p><p><strong>Conclusion: </strong>Chronic weekly rozanolixizumab for up to 52 infusions was generally well tolerated, and clinically relevant improvements across MG-specific outcomes were maintained, supporting the long-term use of rozanolixizumab in patients with gMG.</p><p><strong>Trial registration: </strong>NCT04124965 (registered October 11, 2019).</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 4","pages":"275"},"PeriodicalIF":4.8,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11923026/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143663822","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":"MAPT mutations in amyotrophic lateral sclerosis: clinical, neuropathological and functional insights.","authors":"Sibylle De Bertier, Géraldine Lautrette, Maria-Del-Mar Amador, Tomoko Miki, Séverine Boillée, Christian Stefan Lobsiger, Delphine Bohl, Frederic Darios, Selma Machat, Mathilde Duchesne, Patrick Vourc'h, Anne-Laure Fauret-Amsellem, Philippe Corcia, Nathalie Guy, Philippe Couratier, Danielle Seilhean, Stéphanie Millecamps","doi":"10.1007/s00415-025-13007-1","DOIUrl":"10.1007/s00415-025-13007-1","url":null,"abstract":"<p><strong>Background: </strong>Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are part of a well-established disease continuum, underpinned by TDP43-pathology. In contrast, the clinical manifestations of Tau-linked disorders are typically limited to cognitive phenotypes or atypical parkinsonism, although few reports describe motor neuron involvement associated with MAPT (microtubule-associated protein Tau) mutations. This study aimed to investigate the contribution of MAPT to the ALS phenotype.</p><p><strong>Methods: </strong>We analyzed a whole-exome sequencing database comprising 470 ALS patients and explored the pathogenicity of the identified variants through familial, clinical, neuropathological, and cellular studies.</p><p><strong>Results: </strong>We identified two missense variants in the Tau repeat domains: the novel p.I308T variant, in a patient with early-onset ALS, and the p.P364S mutation in three families with spinal- or respiratory-onset ALS. Segregation of this mutation with disease could be confirmed in two affected cousins. The observation of p.P364S patient's tissue showed accumulations of hyperphosphorylated Tau in various brain regions, prominent in the motor cortex with Lewy body-like inclusions, along with a C-terminal cleaved form of Tau in muscle. In NSC-34 motor neuron cells expressing p.I308T or p.P364S mutants, Tau was discontinuous along the neurites, with clusters of mitochondria resulting from impaired mitochondrial motility.</p><p><strong>Conclusion: </strong>These findings expand the molecular understanding of ALS to include MAPT mutations. MAPT analysis should be incorporated into ALS genetic screening, particularly in patients with a familial history of the disease. Recognizing the full spectrum of MAPT-linked neurodegenerative diseases is of considerable interest, given the ongoing efforts to develop MAPT-targeted therapies.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 4","pages":"272"},"PeriodicalIF":4.8,"publicationDate":"2025-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11920346/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143656816","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":"Whole-body muscle MRI in patients with spinal muscular atrophy.","authors":"Sophia Vera Frølich, Noémie Receveur, Nanna Scharff Poulsen, Adam Espe Hansen, John Vissing","doi":"10.1007/s00415-025-13005-3","DOIUrl":"10.1007/s00415-025-13005-3","url":null,"abstract":"<p><strong>Background: </strong>Spinal muscular atrophy (SMA) is a motor neuron disease with loss of musculature, which is replaced by fat. Previous magnetic resonance imaging (MRI) studies have focused on imaging muscles either in lower or upper extremities, but whole-body MRI can provide additional information on the involvement pattern. This study examined whole-body muscle fat replacement and the relationship between muscle structure, function, and bulbar symptoms.</p><p><strong>Method: </strong>We conducted a descriptive, cross-sectional study. We assessed the fat replacement in skeletal muscles using whole-body MRI, the muscle function using the Motor Function Measurement 32, and bulbar muscle strength using the Bulbar Rating Scale. The presence of bulbar symptoms and function was assessed using the Voice Handicap Index, Eating Assessment Tool questionnaires, and a swallowing test.</p><p><strong>Results: </strong>We recruited 20 adult patients with type II and III SMA. The most affected muscles were the psoas major, soleus and rectus femoris, while the least affected muscles were the biceps brachii, deltoideus, and pterygoideus medialis. The tongue was involved in nearly half of the patients. Most patients reported issues with swallowing (75%) and voice (95%) but had relatively preserved strength of bulbar muscles.</p><p><strong>Conclusion: </strong>Certain muscles are more prone to fat replacement than others in SMA, with a predominant proximal-distal and extensor-flexor involvement. Nearly half of the patients had increased fat content in the tongue, which is associated with dysphagia. In addition, most patients retained muscle strength in the bulbar muscles, despite advanced muscle weakness in the rest of the body.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 4","pages":"271"},"PeriodicalIF":4.8,"publicationDate":"2025-03-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11911266/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143639529","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":"Long-term CSF responses in adult patients with spinal muscular atrophy type 2 or 3 on treatment with nusinersen.","authors":"Gina Cebulla, Ling Hai, Uwe Warnken, Cansu Güngör, Dirk C Hoffmann, Mirjam Korporal-Kuhnke, Brigitte Wildemann, Wolfgang Wick, Tobias Kessler, Markus Weiler","doi":"10.1007/s00415-025-12984-7","DOIUrl":"10.1007/s00415-025-12984-7","url":null,"abstract":"<p><strong>Background: </strong>5q-associated spinal muscular atrophy (SMA) is a monogenic disease causing progressive alpha motor neuron degeneration, muscle atrophy, and weakness. Intrathecal therapy with the antisense oligonucleotide nusinersen modifies the disease course. However, biomarkers for understanding underlying molecular pathomechanisms and monitoring therapy are not yet known.</p><p><strong>Methods: </strong>A total of 130 cerebrospinal fluid (CSF) samples from 24 adult patients with SMA type 2 or 3 were collected over 3.5 years, and CSF proteome was analyzed using mass spectrometry (MS). By applying two complementary MS protein quantification methods, label-free quantification (LFQ) and tandem mass tag (TMT) isotopic labeling, specific protein patterns reflecting changes in the CSF in response to nusinersen therapy were identified. These results were combined with cellular and metabolic profiles.</p><p><strong>Results: </strong>Nusinersen therapy led to a median motor function improvement of 2.2 Hammersmith Functional Motor Scale-Expanded points after 10 months and 2.6 points after 34 months. CSF macrophages increased in number and showed an altered morphology. Albumin quotient (qAlb), glucose, and lactate concentrations were inversely correlated with clinical improvement. MS analysis of CSF identified 1,674 (TMT) and 441 (LFQ) proteins. Protein profiles reflected reduced inhibition of \"nervous system development\" and \"axogenesis\" pathways under therapy. In addition, clinical improvement was associated with upregulation of the interacting proteins α-dystroglycan and beta-1,4-glucuronyltransferase 1, reduction of complement factors, negative correlation in immunoglobulin- and B cell-related pathways, and reduction of cellular mediators such as lymphocytes.</p><p><strong>Conclusion: </strong>The present multi-proteomic analysis contributes to the understanding of the molecular mechanisms underlying nusinersen's therapeutic effects and offers potential biomarkers for monitoring treatment response in SMA.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 4","pages":"270"},"PeriodicalIF":4.8,"publicationDate":"2025-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11909034/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143630525","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":"Cognitive impairment within and beyond the FTD spectrum in ALS: development of a complementary cognitive screen.","authors":"Annebelle Michielsen, Kevin van Veenhuijzen, Fenna Hiemstra, Ilse M Jansen, Boaz Kalkhoven, Jan H Veldink, Esther T Kruitwagen, Michael van Es, Martine J E van Zandvoort, Leonard H van den Berg, Henk-Jan Westeneng","doi":"10.1007/s00415-025-13006-2","DOIUrl":"10.1007/s00415-025-13006-2","url":null,"abstract":"<p><strong>Objective: </strong>To investigate cognitive impairments in amyotrophic lateral sclerosis (ALS), extending both within and beyond the established frontotemporal dementia (FTD) spectrum, using the Complementary Cognitive ALS Screen (C-CAS).</p><p><strong>Methods: </strong>The C-CAS, designed to complement the Edinburgh cognitive and behavioural ALS screen (ECAS), explores cognitive (sub)domains not investigated by the ECAS. Normative data were collected, and models adjusted for age, sex, and education level were developed. Item scores below the 5th percentile in controls were considered abnormal. A sum score was constructed, and C-CAS impairments were compared between ALS patients and controls, and to ECAS impairments.</p><p><strong>Results: </strong>Data from 314 controls and 184 ALS patients were analyzed. The C-CAS is feasible, well-tolerated, and takes 15-20 min to complete. ALS patients performed worse across all 12 items. Within the FTD spectrum, impairments in social cognition, inhibition, and cognitive flexibility were identified in up to 16%, 14%, and 12% of ALS patients, respectively, with minimal overlap with ECAS impairments. Beyond the FTD spectrum, impairments were found in visuoconstruction, incidental non-verbal memory and body orientation (13% each), with minimal overlap with ECAS memory or visuospatial impairments. Overall, 24% of the ALS patients obtained an abnormal C-CAS sum score. Compared to the ECAS, the C-CAS detected additional impairments in 15% of ALS patients. Item-specific and sum score results based on normative data can be accessed at ( https://apps4mnd.com/ccas/ ).</p><p><strong>Interpretation: </strong>We identified cognitive impairments in ALS within and beyond the FTD spectrum not captured by existing screening tools. The C-CAS complements the ECAS, improving personalized counseling and research stratification in ALS.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 4","pages":"268"},"PeriodicalIF":4.8,"publicationDate":"2025-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11903523/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143615766","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":"A decision aid is not the quick fix for improving shared decision-making in advanced Parkinson's disease: results of a mixed methods feasibility study.","authors":"Frouke A P Nijhuis, Bas Schippers, Bastiaan R Bloem, Bart Post, Marjan J Meinders","doi":"10.1007/s00415-025-12972-x","DOIUrl":"10.1007/s00415-025-12972-x","url":null,"abstract":"<p><strong>Background: </strong>Choosing a device-assisted treatment for persons with Parkinson's disease (PwPD) is a complex decision. We developed a shared decision-making (SDM) intervention to facilitate this decision. In this study, we evaluate the feasibility of this intervention from the patients' perspective.</p><p><strong>Methods: </strong>We performed a multi-center, mixed-methods feasibility study with an uncontrolled pre-post-intervention design. Five neurologists and seven Parkinson nurse specialists from five Dutch hospitals participated. We aimed to enroll 20 PwPD in the usual-care group receiving decision support as usual, and 20 PwPD receiving the SDM intervention. The intervention consisted of a patient decision aid and a training for professionals. We evaluated feasibility by measuring acceptability, level of implementation, efficacy and the study procedures. For data collection, we used questionnaires, interviews, cognitive testing, consultation recordings, fieldnotes, and usage of the patient decision aid.</p><p><strong>Results: </strong>We included 19 PwPD in the usual-care group and 13 in the intervention group. Acceptability was good and implementation levels at the patient level were adequate: 92% of the participants used the patient decision aid, of which 77% the website and 69% the value clarification tool. The intervention improved PwPD's knowledge on treatment options, however, it did not improve SDM. The SDM intervention was not used as intended and the initial treatment preference of either the PwPD or the professional directed the information exchange.</p><p><strong>Conclusions: </strong>Inclusion of PwPD for the study was limited. Acceptability of the SDM intervention was good, however, the patient decision aid should be used in collaboration between physicians and patients to enhance SDM.</p><p><strong>Trial registration: </strong>NTR6649, registered 28-08-2017 (available through ICTRP search portal).</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 4","pages":"269"},"PeriodicalIF":4.8,"publicationDate":"2025-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11906552/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143624988","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":"Contribution of fatigue experienced by Parkinson's Disease patients on caregiver burden.","authors":"Salvatore Landolfo, Daniele Urso, Carlo Santoro, Lucia Batzu, Valentina Gnoni, Alessia Giugno, Silvia Rota, Davide Vilella, Fabio Amati, Karolina Popławska-Domaszewicz, Stefano Giannoni-Luza, K Ray Chaudhuri, Giancarlo Logroscino","doi":"10.1007/s00415-025-12962-z","DOIUrl":"https://doi.org/10.1007/s00415-025-12962-z","url":null,"abstract":"<p><strong>Background: </strong>Fatigue is a common non-motor symptom (NMS) in Parkinson's disease (PD), affecting up to 50% of patients. It is suggested that PD-related fatigue may contribute to the burden perceived by caregivers.</p><p><strong>Objective: </strong>This study aims to evaluate the impact of PD-related fatigue on caregiver burden.</p><p><strong>Methods: </strong>Data were obtained from PD patients and their primary caregivers recruited at the Centre for Neurodegenerative Diseases and the Aging Brain, Tricase (Italy), as part of the Non-motor International Longitudinal Study (NILS). Fatigue was assessed using the Fatigue Severity Scale (FSS), while the Caregiver Burden Inventory (CBI) was completed by carers. Univariate and multivariable regression models were employed to assess the relationship of patients' characteristics and non-motor symptoms with caregiver burden.</p><p><strong>Results: </strong>A total of 61 patients were included. Univariate analysis showed disease duration, NMS burden, depression, cognitive performance, and FSS score as potential clinical predictors of CBI. After multivariable analysis, only FSS score and disease duration remained significantly associated with caregiver burden.</p><p><strong>Conclusion: </strong>Patients' fatigue significantly impacts caregivers in PD. Our study fills the gap in the literature exploring this association and emphasizing fatigue assessment to improve the well-being of both individuals with PD and caregivers.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 4","pages":"264"},"PeriodicalIF":4.8,"publicationDate":"2025-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143615767","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":"Could adaptive deep brain stimulation treat freezing of gait in Parkinson's disease?","authors":"Philipp Klocke, Moritz A Loeffler, Simon J G Lewis, Alireza Gharabaghi, Daniel Weiss","doi":"10.1007/s00415-025-13000-8","DOIUrl":"10.1007/s00415-025-13000-8","url":null,"abstract":"<p><p>Next-generation neurostimulators capable of running closed-loop adaptive deep brain stimulation (aDBS) are about to enter the clinical landscape for the treatment of Parkinson's disease. Already promising results using aDBS have been achieved for symptoms such as bradykinesia, rigidity and motor fluctuations. However, the heterogeneity of freezing of gait (FoG) with its wide range of clinical presentations and its exacerbation with cognitive and emotional load make it more difficult to predict and treat. Currently, a successful aDBS strategy to ameliorate FoG lacks a robust oscillatory biomarker. Furthermore, the technical implementation of suppressing an upcoming FoG episode in real-time represents a significant technical challenge. This review describes the neurophysiological signals underpinning FoG and explains how aDBS is currently being implemented. Furthermore, we offer a discussion addressing both theoretical and practical areas that will need to be resolved if we are going to be able to unlock the full potential of aDBS to treat FoG.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 4","pages":"267"},"PeriodicalIF":4.8,"publicationDate":"2025-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11903562/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143615046","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":"Clinical characterization of diseases associated with anti-N-methyl-D-aspartate receptor encephalitis combined with anti-myelin oligodendrocyte glycoprotein antibodies in adults.","authors":"Yingyue Ding, Dalong Wu, Hongshan Chu, Yuqi Tang, Liang Liu, Zhandong Qiu, Zheng Liu, Huirong Yang, Huiqing Dong, Dawei Li","doi":"10.1007/s00415-025-13011-5","DOIUrl":"https://doi.org/10.1007/s00415-025-13011-5","url":null,"abstract":"<p><strong>Objective: </strong>The aim of this study was to analyze the clinical characteristics of adult patients with anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis combined with anti-myelin oligodendrocyte glycoprotein (MOG) antibodies.</p><p><strong>Methods: </strong>This was a non-randomized controlled study. Clinical data were collected from 17 patients with anti-NMDAR encephalitis combined with anti-MOG antibodies admitted to Xuanwu Hospital, Capital Medical University, from January 2020 to August 2024. As controls, 20 patients with NMDAR(+)/MOG(-) and 27 patients with MOG(+)/NMDAR(-) were selected.</p><p><strong>Results: </strong>The mean age of onset in the double-positive group was 33.47 ± 1.065 years, with a male-to-female ratio of 14:3. Significant differences were observed between the NMDAR(+)/MOG(+) group and the NMDAR(+)/MOG(-) group in terms of headache, lumbar puncture pressure, and cerebrospinal fluid (CSF) leukocyte counts (P < 0.05). Comparing the NMDAR(+)/MOG(+) group with the MOG(+)/NMDAR(-) group revealed significant differences in gender, headache, mental and behavioral abnormalities, limb twitching, loss of consciousness, cognitive impairment, speech impairment, visual impairment, limb numbness, cortical/sub-cortical white matter, brainstem lesions, OB type II, and CSF leukocyte counts (P < 0.05). No statistically significant differences were found in the comparison of CSF and serum antibody titers among the three groups (P > 0.05).</p><p><strong>Conclusion: </strong>NMDAR and MOG antibodies can coexist in patients with autoimmune diseases, with a predominance of young male patients. The double-positive group exhibited more severe intracranial viral infections and a higher rate of intrathecal immunoglobulin synthesis in the central tissues. Compared to the double-positive group, NMDAR encephalitis alone presented with more similar clinical manifestations, while MOG-related disease demonstrated a higher likelihood of brainstem involvement.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 4","pages":"262"},"PeriodicalIF":4.8,"publicationDate":"2025-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143615765","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}