Journal of Neurology最新文献

{"title":"HLA-DR3 ~ DQ2 associates with sensory neuropathy in paraneoplastic neurological syndromes with Hu antibodies.","authors":"Sergio Muñiz-Castrillo, Macarena Villagrán-García, Vicente Peris Sempere, Antonio Farina, Anne-Laurie Pinto, Géraldine Picard, Véronique Rogemond, Jérôme Honnorat, Emmanuel Mignot","doi":"10.1007/s00415-024-12534-7","DOIUrl":"10.1007/s00415-024-12534-7","url":null,"abstract":"<p><strong>Objectives: </strong>To investigate the association between human leukocyte antigen (HLA) and paraneoplastic neurological syndromes (PNS) with Hu antibodies, and potential specificities according to clinical presentation and cancer status.</p><p><strong>Methods: </strong>HLA genotypes at four-digit resolution were imputed from available genome-wide association data. Allele carrier frequencies were compared between patients (whole cohort, n = 100, and according to clinical presentation and cancer status) and matched healthy controls (n = 508) using logistic regression controlled by the three main principal components.</p><p><strong>Results: </strong>The clinical presentation of 100 anti-Hu patients involved the central nervous system (28, 28%), the peripheral nervous system (36, 36%) or both combined (36, 36%). Cancer diagnosis was certain in 75 (75%). HLA association analyses revealed that anti-Hu PNS patients were more frequently carriers of DQA1*05:01 (39% vs. 19%, OR = 2.8 [1.74-4.49]), DQB1*02:01 (39% vs. 18%, OR = 2.88 [1.79-4.64]) and DRB1*03:01 (41% vs. 19%, OR = 2.92 [1.80-4.73]) than healthy controls. Remarkably, such DR3 ~ DQ2 association was absent in patients with pure central involvement, but more specific to those manifesting with peripheral involvement: DQA1*05:01 (OR = 3.12 [1.48-6.60]), DQB1*02:01 (OR = 3.35 [1.57-7.15]) and DRB1*03:01 (OR = 3.62 [1.64-7.97]); being even stronger in cases with sensory neuropathy, DQA1*05:01 (OR = 4.41 [1.89-10.33]), DQB1*02:01 (OR = 4.85 [2.04-11.53]) and DRB1*03:01 (OR = 5.79 [2.28-14.74]). Similarly, DR3 ~ DQ2 association was only observed in patients with cancer.</p><p><strong>Discussion: </strong>Patients with anti-Hu PNS show different HLA profiles according to clinical presentation and, probably, cancer status, suggesting pathophysiological differences.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":null,"pages":null},"PeriodicalIF":4.8,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11377461/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141580028","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":"Quality of life and tolerability of B-cell directed therapy of multiple sclerosis with ofatumumab in a patient-centered real-world observational study.","authors":"Anna-Sophia Karl, Rafael Klimas, Melina Katsimpoura, Melissa Sgodzai, Simon Theile-Ochel, Philip Lennart Poser, Barbara Gisevius, Simon Faissner, Anke Salmen, Ilias Nastos, Ralf Gold, Jeremias Motte","doi":"10.1007/s00415-024-12581-0","DOIUrl":"10.1007/s00415-024-12581-0","url":null,"abstract":"<p><strong>Introduction: </strong>Ofatumumab (Kesimpta^®) is a subcutaneous CD20-targeting antibody approved in Germany in 2021 for the treatment of relapsing multiple sclerosis (RMS). After careful instruction, patients can administer the treatment themselves. We previously reported data of 101 patients (Klimas et al. in Nervenarzt 94:923-933, 2023). The objective of this longitudinal study is to explore the tolerability and acceptability of ofatumumab from a patient perspective over a follow up period of 6 months.</p><p><strong>Methods: </strong>In this prospective observational real-world study, we report follow up data of 81 patients. We evaluated sociodemographic data, disease duration, duration and side effects of ofatumumab use, expanded disability status scale (EDSS), Beck Depression Inventory II (BDI-II), Short-Form 36 (SF-36), Fatigue Scale of Motor and Cognitive Functions (FSMC), and modified Multiple Sclerosis Functional Composite Test (MSFC). In addition, we asked for subjective treatment outcomes, such as impact on quality of life, walking distance, concentration, mood, medication adherence, fatigue and the subjective course of MS on a numerical rating scale (1 = very negative; 5 = very positive). Furthermore, treatment discontinuations were recorded.</p><p><strong>Results: </strong>The average duration of ofatumumab treatment was 10 months. In comparison to previous published data of our cohort, patients reported a significant increase in headache (10% up to 26%, p = 0.004) and limb pain (5% up to 26%, p < 0.001) as persistent side effects after the injections. More patients reported a very positive effect (p < 0.0001) on quality of life. 4 confirmed relapses occurred but no EDSS worsening, and no treatment discontinuations were documented during the observation period.</p><p><strong>Discussion: </strong>As previously described, our prospective study indicates that patients have a good tolerability of ofatumumab, precisely because of the mild and few side effects at the first administration. However, the longer the observation period, the more headaches and limb pain occurred after the injections. Despite this, patients' subjective quality of life improved. There were no discontinuations during the follow-up period, with the limitation of a high loss to follow-up.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":null,"pages":null},"PeriodicalIF":4.8,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11377633/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141748450","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 impact of nusinersen on motor and electrophysiological outcomes in adolescent and adult spinal muscular atrophy: insights from a multicenter retrospective study.","authors":"Ningning Wang, Ying Hu, Kexin Jiao, Nachuan Cheng, Jian Sun, JinXue Tang, Jie Song, Chong Sun, Tao Wang, Kai Wang, Kai Qiao, Jianying Xi, Chongbo Zhao, Liqiang Yu, Wenhua Zhu","doi":"10.1007/s00415-024-12567-y","DOIUrl":"10.1007/s00415-024-12567-y","url":null,"abstract":"<p><strong>Background: </strong>5q spinal muscular atrophy (SMA) is a progressive autosomal recessive motor neuron disease.</p><p><strong>Objective: </strong>We aimed to assess the effects of nusinersen on motor function and electrophysiological parameters in adolescent and adult patients with 5q SMA.</p><p><strong>Methods: </strong>Patients with genetically confirmed 5q SMA were eligible for inclusion, and clinical data were collected at baseline (V1), 63 days (V4), 180 days (V5), and 300 days (V6). The efficacy of nusinersen was monitored by encompassing clinical assessments, including the Revised Upper Limb Module (RULM), Hammersmith Functional Motor Scale Expanded (HFMSE), 6-Minute Walk Test (6MWT), and percent-predicted Forced Vital Capacity in sitting position (FVC%) and Compound Muscle Action Potential (CMAP) amplitude. The patients were divided into \"sitter\" and \"walker\" subgroups according to motor function status.</p><p><strong>Results: </strong>54 patients were screened, divided into \"sitter\" (N = 22) and \"walker\" (N = 32), with the mean age at baseline of 27.03 years (range 13-53 years). The HFMSE in the walker subgroup increased significantly from baseline to V4 (mean change +2.32-point, P = 0.004), V5 (+3.09, P = 0.004) and V6 (+4.21, P = 0.005). The patients in both the sitter and walker subgroup had no significant changes in mean RULM between V1 and the following time points. Significant increases in CMAP amplitudes were observed in both upper and lower limbs after treatment. Also, patients with RULM ≥ 36 points showed significant CMAP improvements. Our analysis predicted that patients with CMAP amplitudes of trapezius ≥ 1.76 mV were more likely to achieve significant motor function improvements.</p><p><strong>Conclusions: </strong>Nusinersen effectively improves motor function and electrophysiological data in adolescent and adult patients with SMA. This is the first report on the CMAP amplitude changes in the trapezius after treatment in patients with SMA. The CMAP values effectively compensate for the ceiling effect observed in the RULM, suggesting that CMAP could serve as an additional biomarker for evaluating treatment efficacy.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":null,"pages":null},"PeriodicalIF":4.8,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141727313","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":"Analysis and occurrence of biallelic pathogenic repeat expansions in RFC1 in a German cohort of patients with a main clinical phenotype of motor neuron disease.","authors":"Annalisa Schaub, Hannes Erdmann, Veronika Scholz, Manuela Timmer, Isabell Cordts, Rene Günther, Peter Reilich, Angela Abicht, Florian Schöberl","doi":"10.1007/s00415-024-12519-6","DOIUrl":"10.1007/s00415-024-12519-6","url":null,"abstract":"<p><p>Biallelic pathogenic repeat expansions in RFC1 were recently identified as molecular origin of cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) as well as of one of the most common causes of adult-onset ataxia. In the meantime, the phenotypic spectrum has expanded massively and now includes mimics of multiple system atrophy or parkinsonism. After identifying a patient with a clinical diagnosis of amyotrophic lateral sclerosis (ALS) as a carrier of biallelic pathogenic repeat expansions in RFC1, we studied a cohort of 106 additional patients with a clinical main phenotype of motor neuron disease (MND) to analyze whether such repeat expansions are more common in MND patients. Indeed, two additional MND patients (one also with ALS and one with primary lateral sclerosis/PLS) have been identified as carrier of biallelic pathogenic repeat expansions in RFC1 in the absence of another genetic alteration explaining the phenotype, suggesting motor neuron disease as another extreme phenotype of RFC1 spectrum disorder. Therefore, MND might belong to the expanding phenotypic spectrum of pathogenic RFC1 repeat expansions, particularly in those MND patients with additional features such as sensory and/or autonomic neuropathy, vestibular deficits, or cerebellar signs. By systematically analyzing the RFC1 repeat array using Oxford nanopore technology long-read sequencing, our study highlights the high intra- and interallelic heterogeneity of this locus and allows the identification of the novel repeat motif 'ACAAG'.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":null,"pages":null},"PeriodicalIF":4.8,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11377604/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141446324","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":"Digital outcome measures are associated with brain atrophy in patients with multiple sclerosis.","authors":"Pam C G Molenaar, Samantha Noteboom, David R van Nederpelt, Eva A Krijnen, Julia R Jelgerhuis, Ka-Hoo Lam, Gerrieke B Druijff-van de Woestijne, Kim A Meijer, Pim van Oirschot, Brigit A de Jong, Iman Brouwer, Bas Jasperse, Vincent de Groot, Bernard M J Uitdehaag, Menno M Schoonheim, Eva M M Strijbis, Joep Killestein","doi":"10.1007/s00415-024-12516-9","DOIUrl":"10.1007/s00415-024-12516-9","url":null,"abstract":"<p><strong>Background: </strong>Digital monitoring of people with multiple sclerosis (PwMS) using smartphone-based monitoring tools is a promising method to assess disease activity and progression.</p><p><strong>Objective: </strong>To study cross-sectional and longitudinal associations between active and passive digital monitoring parameters and MRI volume measures in PwMS.</p><p><strong>Methods: </strong>In this prospective study, 92 PwMS were included. Clinical tests [Expanded Disability Status Scale (EDSS), Timed 25 Foot Walk test (T25FW), 9-Hole Peg Test (NHPT), and Symbol Digit Modalities Test (SDMT)] and structural MRI scans were performed at baseline (M0) and 12-month follow-up (M12). Active monitoring included the smartphone-based Symbol Digit Modalities Test (sSDMT) and 2 Minute Walk Test (s2MWT), while passive monitoring was based on smartphone keystroke dynamics (KD). Linear regression analyses were used to determine cross-sectional and longitudinal relations between digital and clinical outcomes and brain volumes, with age, disease duration and sex as covariates.</p><p><strong>Results: </strong>In PwMS, both sSDMT and SDMT were associated with thalamic volumes and lesion volumes. KD were related to brain, ventricular, thalamic and lesion volumes. No relations were found between s2MWT and MRI volumes. NHPT scores were associated with lesion volumes only, while EDSS and T25FW were not related to MRI. No longitudinal associations were found for any of the outcome measures between M0 and M12.</p><p><strong>Conclusion: </strong>Our results show clear cross-sectional correlations between digital biomarkers and brain volumes in PwMS, which were not all present for conventional clinical outcomes, supporting the potential added value of digital monitoring tools.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":null,"pages":null},"PeriodicalIF":4.8,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11377687/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141616634","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 family with neuronal intranuclear inclusion disease with focal segmental glomerulosclerosis.","authors":"Kazuki Watanabe, Tomoyasu Bunai, Masamune Sakamoto, Sayaka Ishigaki, Takamasa Iwakura, Naro Ohashi, Rie Wakatsuki, Akiyuki Takenouchi, Moriya Iwaizumi, Yoshihiro Hotta, Ken Saida, Eriko Koshimizu, Satoko Miyatake, Hirotomo Saitsu, Naomichi Matsumoto, Tomohiko Nakamura","doi":"10.1007/s00415-024-12593-w","DOIUrl":"10.1007/s00415-024-12593-w","url":null,"abstract":"<p><strong>Background: </strong>Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disease caused by the expansion of GGC repeats in the 5'-untranslated region (5'-UTR) of NOTCH2NLC. Although increasing evidence suggests that NIID affects various organs, its association with renal involvement remains unclear. We studied the genetic background of a family with NIID, in which four of five members presented with proteinuria as the initial manifestation. The renal pathology of three patients was diagnosed as focal segmental glomerulosclerosis (FSGS) at a previous hospital. These patients also presented with tremors, retinal degeneration, and episodic neurological events. Finally, one patient exhibited reversible bilateral thalamic high-intensity signal changes on diffusion-weighted imaging during episodic neurological events.</p><p><strong>Methods: </strong>Exome sequencing (ES) and nanopore long-read whole-genome sequencing (LR-WGS) were performed on the index case, followed by nanopore target sequencing using Cas9-mediated PCR-free enrichment and methylation analysis.</p><p><strong>Results: </strong>ES revealed no candidate variants; however, nanopore LR-WGS in the index case revealed expansion of short tandem repeats (STR) in NOTCH2NLC. Subsequent nanopore target sequencing using Cas9-mediated PCR-free enrichment showed STR expansion of NOTCH2NLC in an affected sibling and asymptomatic father. Methylation analysis using nanopore data revealed hypermethylation of the expanded allele in the asymptomatic father and partial hypermethylation in a mildly symptomatic sibling, whereas the expanded allele was hypomethylated in the index case.</p><p><strong>Conclusions: </strong>This investigation expands the clinical spectrum of NIID, suggesting that STR expansion of NOTCH2NLC is a cause of renal diseases, including FSGS.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":null,"pages":null},"PeriodicalIF":4.8,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141792661","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":"Phenotypic variability related to dominant UCHL1 mutations: about three families with optic atrophy and ataxia.","authors":"C Marelli, F Ramond, C Vignal, C Blanchet, S Frost, Q Hao, B Bocquet, Y Nadjar, N Leboucq, G Taieb, M Benkirane, C Hersent, M Koenig, I Meunier","doi":"10.1007/s00415-024-12574-z","DOIUrl":"10.1007/s00415-024-12574-z","url":null,"abstract":"<p><strong>Introduction: </strong>Ubiquitin C-terminal hydrolase L1 (UCHL1) has been associated with a severe, complex autosomal recessive spastic paraplegia (HSP79) [1] [2] [3] [4]. More recently, UCHL1 loss of function (LoF) variants have been associated to an autosomal dominant disease characterized by late-onset spastic ataxia, neuropathy, and frequent optic atrophy [5].</p><p><strong>Methods: </strong>Routine clinical care whole-genome (WGS) and exome (ES) sequencing.</p><p><strong>Results: </strong>We present three families with autosomal dominant UCHL1-related disorder. The clinical phenotype mainly associated optic atrophy, mixed cerebellar and sensory ataxia, and possible hearing loss. We delineated two major phenotypes, even within the same family: (1) juvenile severe optic atrophy followed by a later-onset ataxia, or (2) late-onset ataxia with asymptomatic or mild optic atrophy. The families harboured three novel heterozygous variants in UCHL1: two loss of function (p.Lys115AsnfsTer40; c.171_174 + 7del11), and one missense (p.Asp176Asn) involving the catalytic site of the protein and potentially altering the adjacent splice site.</p><p><strong>Discussion: </strong>We confirm the existence of dominantly inherited UCHL1 pathogenic variants. We describe a considerable intrafamilial phenotypic variability, with two main phenotypes. Optic atrophy was consistently present, but with varying degrees of severity. Neither delayed motor or intellectual development, nor dysmorphic features were part of the dominant phenotype in comparison with the autosomal recessive form. The molecular mechanism appears to be haploinsufficiency. UCHL1 monoallelic variants should therefore be considered in any case of early-onset optic atrophy or in late-onset complex ataxic syndrome with asymptomatic optic atrophy.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":null,"pages":null},"PeriodicalIF":4.8,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141727314","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":"Stroke heart injury: the effect of cerebral reperfusion treatment. A 3-year retrospective study.","authors":"Gabriele Prandin, Giovanni Furlanis, Laura Mancinelli, Federica Palacino, Emanuele Vincis, Ilario Scali, Paola Caruso, Marcello Naccarato, Paolo Manganotti","doi":"10.1007/s00415-024-12531-w","DOIUrl":"10.1007/s00415-024-12531-w","url":null,"abstract":"<p><strong>Background: </strong>Cardiac involvement following an acute stroke (Stroke Heart Syndrome-SHS) is an established complication and it is linked to the involvement of sympathetic activation, inflammation, and neuro-endocrine response. Troponin \"rise and fall pattern\" > 30% is one marker of SHS. The aim of this study was to evaluate the role of reperfusion treatments in the prevention/pathogenesis of SHS with different stroke sizes and locations (OCSP classification).</p><p><strong>Methods: </strong>We retrospectively analyzed data of 890 patients admitted to the Stroke Unit of Trieste (Italy) between 2018 and 2020. Out of them, 411 met the inclusion criteria (acute ischemic non-lacunar stroke). Clinical data were collected for each patient, imaging characteristics, and markers of cardiac injury [troponin I (TnI), NT-proBNP, \"rise and fall pattern\" > 30%]. We compared different stroke subtypes according to OCSP, while evaluating any differences in patients with and without SHS.</p><p><strong>Results: </strong>In treated total anterior circulation infarct (TACI) patients, the rate of SHS is lower than in non-treated TACI. Similar SHS rate was found in partial anterior (PACI) and posterior stroke (POCI), and between treated and non-treated patients. Focusing on TACI group, we compared SHS-TACI and non-SHS-TACI, we performed a univariate and multivariate analysis; treatment (OR 0.408 CI95% 0.185-0.900; p = 0.026) and diabetes (OR 2.618 CI95% 1.181-5.803; p = 0.018) were significantly associated to SHS. No clear insular effect was found in SHS development.</p><p><strong>Conclusions: </strong>In severe anterior stroke (TACI), reperfusion treatment may be effective in preventing SHS. Conversely, diabetes is an independent risk factor for SHS. PACI and POCI have similar troponin elevation rate.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":null,"pages":null},"PeriodicalIF":4.8,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141616635","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":"Multicenter evaluation of mechanical thrombectomy for distal medium vessel occlusions with National Institute of Health Stroke Scale Scores ≥ 6 and ≤ 6.","authors":"Anna Luisa Kühn, Ajit S Puri, Hamza Adel Salim, Basel Musmar, Sherief Ghozy, James Siegler, Hamza Shaikh, Jane Khalife, Mohamad Abdalkader, Piers Klein, Thanh N Nguyen, Jeremy J Heit, Robert W Regenhardt, Jose Danilo Bengzon Diestro, Nicole M Cancelliere, Ahmad Sweid, Kareem El Naamani, Zuha Hasan, Anil Gopinathan, Abdelaziz Amllay, Lukas Meyer, Anne Dusart, Flavio Bellante, Géraud Forestier, Aymeric Rouchaud, Suzana Saleme, Charbel Mounayer, Jens Fiehler, Christian Dyzmann, Peter T Kan, Jasmeet Singh, Marco Colasurdo, Gaultier Marnat, Jérôme Berge, Xavier Barreau, Igor Sibon, Simona Nedelcu, Nils Henninger, Thomas R Marotta, Christopher J Stapleton, James D Rabinov, Takahiro Ota, Shogo Dofuku, Leonard Ll Yeo, Benjamin Y Q Tan, Juan Carlos Martinez-Gutierrez, Sergio Salazar-Marioni, Sunil Sheth, Leonardo Renieri, Carolina Capirossi, Ashkan Mowla, Stavropoula I Tjoumakaris, Pascal Jabbour, Priyank Khandelwal, Arundhati Biswas, Frédéric Clarençon, Mahmoud Elhorany, Kevin Premat, Iacopo Valente, Alessandro Pedicelli, João Pedro Filipe, Ricardo Varela, Miguel Quintero-Consuegra, Nestor R Gonzalez, Markus A Möhlenbruch, Jessica Jesser, Vincent Costalat, Adrien Ter Schiphorst, Vivek Yedavalli, Pablo Harker, Lina Chervak, Yasmin Aziz, Benjamin Gory, Christian Paul Stracke, Constantin Hecker, Monika Killer-Oberpfalzer, Christoph J Griessenauer, Ajith Thomas, Cheng-Yang Hsieh, David S Liebeskind, Răzvan Alexandru Radu, Andrea M Alexandre, Robert Fahed, Illario Tancredi, Tobias D Faizy, Charlotte Weyland, Boris Lubicz, Aman B Patel, Vitor Mendes Pereira, Adrien Guenego, Adam A Dmytriw","doi":"10.1007/s00415-024-12537-4","DOIUrl":"10.1007/s00415-024-12537-4","url":null,"abstract":"<p><strong>Background: </strong>While mechanical thrombectomy is considered standard of care for large vessel occlusions, scientific evidence to support treatment for distal and medium vessel occlusions remains scarce.</p><p><strong>Purpose: </strong>To evaluate feasibility, safety, and outcomes in patients with low National Institute of Health Stroke Scale scores undergoing mechanical thrombectomy for treatment of distal medium vessel occlusions.</p><p><strong>Materials and methods: </strong>Retrospective data review and analysis of prospectively maintained databases at 41 academic centers in North America, Asia, and Europe between January 2017 and January 2022. Characteristics and outcomes were compared between groups with low stroke scale score (≤ 6) versus and higher stroke scale scores (> 6). Propensity score matching using the optimal pair matching method and 1:1 ratio was performed.</p><p><strong>Results: </strong>Data were collected on a total of 1068 patients. After propensity score matching, there were a total of 676 patients included in the final analysis, with 338 patients in each group. High successful reperfusion rates were seen in both groups, 90.2% in ≤ 6 and 88.7% in the > 6 stroke scale groups. The frequency of excellent and good functional outcome was seen more common in low versus higher stroke scale score patients (64.5% and 81.1% versus 39.3% and 58.6%, respectively). The 90-day mortality rate observed in the ≤ 6 stroke scale group was 5.3% versus 13.3% in the > 6 stroke scale group.</p><p><strong>Conclusion: </strong>Mechanical thrombectomy in distal and medium vessel occlusions, specifically in patients with low stroke scale scores is feasible, though it may not necessarily improve outcomes over IVT.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":null,"pages":null},"PeriodicalIF":4.8,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141534574","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":"Pre-thymectomy disease severity predicts outcome in acetylcholine receptor antibody-positive generalised myasthenia gravis.","authors":"Athanasios Papathanasiou, Chris R Tench, Philip A Ambrose, Saam Sedehizadeh, Radu Tanasescu","doi":"10.1007/s00415-024-12592-x","DOIUrl":"10.1007/s00415-024-12592-x","url":null,"abstract":"<p><strong>Introduction: </strong>There are only a few studies exploring post-thymectomy outcome in patients with acetylcholine receptor antibody (AChR-Ab)-positive generalised myasthenia gravis (MG).</p><p><strong>Objective: </strong>To assess the predictors of outcome in patients with AChR-Ab-positive generalised MG who underwent thymectomy.</p><p><strong>Methods: </strong>A retrospective study of 53 patients from a single neuroscience centre in the UK.</p><p><strong>Results: </strong>The mean disease duration from diagnosis was 6.2 ± 4.3 years. Pre-thymectomy, 37 patients had mild weakness affecting muscles other than ocular muscles, 11 patients had moderate weakness and 5 patients had severe weakness. 27/53 patients had thymoma. Post-thymectomy (mean duration of 5.7 ± 4.2 years), 34 patients (64%) had a good outcome characterised by Myasthenia Gravis Foundation of America Post-Intervention Status of complete stable remission (no symptoms or signs of MG for at least 1 year without any therapy) or pharmacological remission (no symptoms or signs of MG with some form of therapy) or minimal manifestations (no symptoms of functional limitations from MG but weakness on examination of some muscles with or without some form of therapy) on last follow-up visit. Having thymomatous or non-thymomatous MG did not predict the outcome. The only variable that did predict outcome was pre-thymectomy disease severity; patients with mild weakness before thymectomy had a favourable outcome. We found an accuracy of 83% predicting outcome (95% confidence interval (CI) 60%, 100%) with a sensitivity of 84% (95% CI 68%, 94%) and specificity of 81% (95% CI 54%, 96%).</p><p><strong>Conclusion: </strong>Disease severity before thymectomy predicts outcome in patients with AChR-Ab-positive generalised MG.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":null,"pages":null},"PeriodicalIF":4.8,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141855767","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}