Journal of Neurology最新文献

{"title":"The emerging role of the cerebellum in the affective theory of mind in the behavioral variant of frontotemporal dementia.","authors":"Sonia Di Tella, Maria Caterina Silveri, Davide Quaranta, Naike Caraglia, Libera Siciliano, Camillo Marra, Maria Leggio, Giusy Olivito","doi":"10.1007/s00415-024-12595-8","DOIUrl":"10.1007/s00415-024-12595-8","url":null,"abstract":"","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":null,"pages":null},"PeriodicalIF":4.8,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11446944/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141893667","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":"Pediatric-onset Multiple Sclerosis treatment: a multicentre observational study comparing natalizumab with fingolimod.","authors":"Antonio Carotenuto, Cristina Di Monaco, Laura Papetti, Giovanna Borriello, Elisabetta Signoriello, Camilla Masciulli, Valentina Tomassini, Giovanna De Luca, Antonio Ianniello, Giacomo Lus, Federica Novarella, Antonio Luca Spiezia, Dario Di Somma, Marcello Moccia, Maria Petracca, Carmine Iacovazzo, Giuseppe Servillo, Emilio Portaccio, Maria Triassi, Maria Pia Amato, Carlo Pozzilli, Massimiliano Valeriani, Vincenzo Brescia Morra, Roberta Lanzillo","doi":"10.1007/s00415-024-12610-y","DOIUrl":"10.1007/s00415-024-12610-y","url":null,"abstract":"<p><strong>Background: </strong>Pediatric-onset Multiple Sclerosis (POMS) patients show more inflammatory disease compared with adult-onset MS. However, highly effective treatments are limited with only fingolimod being approved in Italy and natalizumab prescribed as off-label treatment.</p><p><strong>Objectives: </strong>to compare the efficacy of natalizumab versus fingolimod in POMS.</p><p><strong>Methods: </strong>This is an observational longitudinal multicentre study including natalizumab- and fingolimod-treated POMS patients (N-POMS and F-POMS, respectively). We collected Annual Relapse Rate (ARR), Expanded Disability Status Scale (EDSS), Symbol Digit Modality Test (SDMT), and MRI activity at baseline (T0), 12-18 months (T1), and last available observation (T2).</p><p><strong>Results: </strong>We enrolled 57 N-POMS and 27 F-POMS patients from six Italian MS Centres. At T0, N-POMS patients showed higher ARR (p = 0.03), higher EDSS (p = 0.003) and lower SDMT (p = 0.04) at baseline compared with F-POMS. Between T₀ and T₁ ARR improved for both N-POMS and F-POMS (p < 0.001), while EDSS (p < 0.001) and SDMT (p = 0.03) improved only for N-POMS. At T₂ (66.1 ± 55.4 months) we collected data from 42 out of 57 N-POMS patients showing no further ARR decrease.</p><p><strong>Conclusion: </strong>Both natalizumab and fingolimod showed high and sustained efficacy in controlling relapses and natalizumab also associated to a disability decrease in POMS. This latter effect might be partly mediated by the high inflammatory activity at baseline in N-POMS.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":null,"pages":null},"PeriodicalIF":4.8,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11446972/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142036084","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":"Exploring first-degree family history in a cohort of Portuguese Alzheimer's disease patients: population evidence for X-chromosome linked and recessive inheritance of risk factors.","authors":"Miguel Tábuas-Pereira, Catarina Bernardes, João Durães, Marisa Lima, Ana Rita Nogueira, Jorge Saraiva, Teresa Tábuas, Mariana Coelho, Kimberly Paquette, Kaitlyn Westra, Célia Kun-Rodrigues, Maria Rosário Almeida, Inês Baldeiras, José Brás, Rita Guerreiro, Isabel Santana","doi":"10.1007/s00415-024-12673-x","DOIUrl":"10.1007/s00415-024-12673-x","url":null,"abstract":"<p><strong>Background: </strong>Alzheimer's disease (AD) heritability is estimated to be around 70-80%. Yet, much of it remains to be explained. Studying transmission patterns may help in understanding other factors contributing to the development of AD.</p><p><strong>Objective: </strong>In this study, we aimed to search for evidence of autosomal recessive or X- and Y-linked inheritance of risk factors in a large cohort of Portuguese AD patients.</p><p><strong>Methods: </strong>We collected family history from patients with AD and cognitively healthy controls over 75 years of age. We compared the proportions of maternal and paternal history in male and female patients and controls (to search for evidence of X-linked and Y-linked inherited risk factors). We compared the risk of developing AD depending on parents' birthplace (same vs. different), as a proxy of remote consanguinity. We performed linear regressions to study the association of these variables with different endophenotypes.</p><p><strong>Results: </strong>We included 3090 participants, 2183 cognitively healthy controls and 907 patients with AD. Men whose mother had dementia have increased odds of developing AD comparing to women whose mother had dementia. In female patients with a CSF biomarker-supported diagnosis of AD, paternal history of dementia is associated with increased CSF phosphorylated Tau levels. People whose parents are from the same town have higher risk of dementia. In multivariate analysis, this proxy is associated with a lower age of onset and higher CSF phosphorylated tau.</p><p><strong>Conclusions: </strong>Our study gives evidence supporting an increased risk of developing AD associated with an X-linked inheritance pattern and remote consanguinity.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":null,"pages":null},"PeriodicalIF":4.8,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11447147/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142132987","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":"Evolution from viral encephalitis to autoimmune encephalitis to multiple sclerosis: a case report.","authors":"Katharina Wurdack, Harald Prüss, Carsten Finke","doi":"10.1007/s00415-024-12659-9","DOIUrl":"10.1007/s00415-024-12659-9","url":null,"abstract":"<p><strong>Background: </strong>There are established associations between viral and autoimmune encephalitis as well as between autoimmune encephalitis and demyelinating central nervous system (CNS) diseases. Here, we report the evolution from varicella zoster virus (VZV) encephalitis to limbic autoimmune encephalitis (AIE) to multiple sclerosis (MS) in one patient.</p><p><strong>Case report: </strong>A woman in her mid-thirties presented with headache, aphasia, and a generalized tonic-clonic seizure. Cerebrospinal fluid (CSF) VZV polymerase chain reaction was positive and treatment with acyclovir was administered for VZV encephalitis. Five months later, the patient presented with cognitive deficits and MRI showed new bilateral hippocampal T2-hyperintensities. CSF analyses revealed pleocytosis and neuropil antibodies in tissue-staining. A diagnosis of limbic AIE was established and treatment with IV steroids and IV immunoglobulins initiated. One year later, the patient developed paresthesia of both legs and magnetic resonance imaging studies now showed new supratentorial and spinal demyelinating lesions. The patient was diagnosed with MS and treatment was changed to rituximab.</p><p><strong>Conclusions: </strong>This unique case report links three important neuroimmunological entities in characterizing the evolution from infectious to autoimmune encephalitis to multiple sclerosis in one patient. Identification of such rare clinical constellations is critical for correct treatment choice and provides important novel insights into the pathophysiology of neuroimmunological disorders including viral triggers and overlap manifestations of autoimmune CNS diseases.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":null,"pages":null},"PeriodicalIF":4.8,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11446979/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142108347","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":"The contribution of white matter changes to clinical phenotype in progressive supranuclear palsy.","authors":"Maria Francesca Tepedino, Francesco Diana, Filomena Abate, Anna Rosa Avallone, Miriam Caterino, Roberto Erro, Maria Teresa Pellecchia, Renzo Manara, Paolo Barone, Marina Picillo","doi":"10.1007/s00415-024-12662-0","DOIUrl":"10.1007/s00415-024-12662-0","url":null,"abstract":"<p><p>White matter hyperintensities (WMH) are considered magnetic brain imaging (MRI) biomarkers of cerebral small vessel disease but their clinical role in neurodegenerative-related disorders is poorly understood. This study describes the distribution of WMH on brain MRI in Progressive Supranuclear Palsy (PSP) in comparison with Parkinson's disease (PD) and explores their possible impact on disease's features. Sixty PSP and 33 PD patients were included. Motor symptoms, cardiovascular risk factors and the age-related white matter changes (ARWMC) score was computed to rate WMH for both groups. Pearson's correlation and linear or logistic regression analysis were used to check for relationships between ARWMC and PSP clinical scores. The mean (standard deviation) ARWMC total score in the PSP cohort was 4.66 (3.25). Any degree of WMH was present in 68% of PSP (ARWMC +). Compared to ARWMC-, ARWMC + did not have greater disease severity or more cardiovascular risk factors. WMH were frequently localized in fronto-parietal lobes and were mild in severity. Linear regression analysis showed that ARWMC total score was related to the PSP-rating scale, irrespective of age, disease duration and the Charlson modified comorbidity index. Logistic regression analysis confirmed that ARWMC total score was related to the use of wheelchair, irrespective of above-mentioned covariates. Vascular risk factors as well as severity and distribution of WMH did not have an impact on the PSP phenotype. No differences were found with PD patients. Our results suggest that WMH in PSP might be markers of neurodegenerative-related pathology rather than being simple expression of atherosclerotic cerebrovascular changes.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":null,"pages":null},"PeriodicalIF":4.8,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11447107/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142108351","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 multidimensional gender analysis of health technology self-efficacy among people with Parkinson's disease.","authors":"Irene Göttgens, Sirwan K L Darweesh, Bastiaan R Bloem, Sabine Oertelt-Prigione","doi":"10.1007/s00415-024-12635-3","DOIUrl":"10.1007/s00415-024-12635-3","url":null,"abstract":"<p><strong>Background: </strong>Digital health technologies (DHT) enable self-tracking of bio-behavioral states and pharmacotherapy outcomes in various diseases. However, the role of gender, encompassing social roles, expectations, and relations, is often overlooked in their adoption and use. This study addresses this issue for persons with Parkinson's disease (PD), where DHT hold promise for remote evaluations.</p><p><strong>Methods: </strong>We conducted a cross-sectional survey study in the Netherlands, assessing the impact of gender identity, roles, and relations on health technology self-efficacy (HTSE) and attitude (HTA). An intersectional gender analysis was applied to explore how gender intersects with education, employment, disease duration, and severity in influencing HTSE and HTA.</p><p><strong>Results: </strong>Among 313 participants (40% women), no significant correlation was found between gender identity or relations and HTSE or HTA. However, individuals with an androgynous (non-binary) gender role orientation demonstrated better HTSE and HTA. The exploratory intersectional analysis suggested that sociodemographic and clinical factors might affect the influence of gender role orientations on HTSE and HTA, indicating complex and nuanced interactions.</p><p><strong>Conclusion: </strong>This study highlights the importance of investigating gender as a multidimensional variable in PD research on health technology adoption and use. Considering gender as a behavioral construct, such as through gender roles and norms, shows more significant associations with HTSE and HTA, although effect sized were generally small. The impact of gender dimensions on these outcomes can be compounded by intersecting social and disease-specific factors. Future studies should consider multiple gender dimensions and intersecting factors to fully understand their combined effects on technology uptake and use among people with PD.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":null,"pages":null},"PeriodicalIF":4.8,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11457693/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142017714","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":"Switching from inotersen to eplontersen in patients with hereditary transthyretin-mediated amyloidosis with polyneuropathy: analysis from NEURO-TTRansform.","authors":"Isabel Conceição, John L Berk, Markus Weiler, Pedro A Kowacs, Noel R Dasgupta, Sami Khella, Chi-Chao Chao, Shahram Attarian, T Jesse Kwoh, Shiangtung W Jung, Jersey Chen, Nicholas J Viney, Rosie Z Yu, Morie Gertz, Ahmad Masri, Márcia Waddington Cruz, Teresa Coelho","doi":"10.1007/s00415-024-12616-6","DOIUrl":"10.1007/s00415-024-12616-6","url":null,"abstract":"<p><strong>Background: </strong>The phase 3 NEURO-TTRansform trial showed eplontersen treatment for 65 weeks reduced transthyretin (TTR), halted progression of neuropathy impairment, and improved quality of life (QoL) in adult patients with hereditary TTR-mediated amyloidosis with polyneuropathy (ATTRv-PN), vs. historical placebo.</p><p><strong>Methods: </strong>NEURO-TTRansform enrolled patients with ATTRv-PN. A subset of patients were randomized to receive subcutaneous inotersen 300 mg weekly (Weeks 1-34) and subsequently switched to subcutaneous eplontersen 45 mg every 4 weeks (Weeks 37-81). Change in serum TTR and treatment-emergent adverse events (TEAEs) were evaluated through Week 85. Effects on neuropathy impairment, QoL, and nutritional status were also evaluated.</p><p><strong>Results: </strong>Of 24 patients randomized to inotersen, 20 (83%) switched to eplontersen at Week 37 and four discontinued due to AEs/investigator decision. Absolute change in serum TTR was greater after switching from inotersen (-74.3%; Week 35) to eplontersen (-80.6%; Week 85). From the end of inotersen treatment, neuropathy impairment and QoL were stable (i.e., did not progress) while on eplontersen, and there was no deterioration in nutritional status. TEAEs were fewer with eplontersen (Weeks 37-85; 19/20 [95%] patients) compared with inotersen (up to Week 35; 24/24 [100%] patients). Mean platelet counts decreased during inotersen treatment (mean nadir reduction ‒40.7%) and returned to baseline during eplontersen treatment (mean nadir reduction, ‒3.2%).</p><p><strong>Conclusions: </strong>Switching from inotersen to eplontersen further reduced serum TTR, halted disease progression, stabilized QoL, restored platelet count, and improved tolerability, without deterioration in nutritional status. This supports a positive benefit-risk profile for patients with ATTRv-PN who switch from inotersen to eplontersen.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":null,"pages":null},"PeriodicalIF":4.8,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11447117/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141975931","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":"Biplanar MRI significantly improves early detection of transient global amnesia.","authors":"Omar Alhaj Omar, Anne Mrochen, Norma J Diel, Stefan T Gerner, Hagen B Huttner, Julia Heinrichs, Tobias Braun","doi":"10.1007/s00415-024-12643-3","DOIUrl":"10.1007/s00415-024-12643-3","url":null,"abstract":"","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":null,"pages":null},"PeriodicalIF":4.8,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11447076/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142108345","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":"Thrombospondin-4 as potential cerebrospinal fluid biomarker for therapy response in pediatric spinal muscular atrophy.","authors":"Vera Dobelmann, Andreas Roos, Andreas Hentschel, Adela Della Marina, Markus Leo, Linda-Isabell Schmitt, Lorenzo Maggi, Ulrike Schara-Schmidt, Tim Hagenacker, Tobias Ruck, Heike Kölbel","doi":"10.1007/s00415-024-12670-0","DOIUrl":"10.1007/s00415-024-12670-0","url":null,"abstract":"<p><strong>Background and purpose: </strong>Spinal muscular atrophy (SMA) as the second most common neurodegenerative disorder in childhood is characterized by the deficiency of survival of motor neuron (SMN) protein leading predominantly to degeneration of alpha motor neurons and consequently to progressive muscle weakness and atrophy. Besides some biomarkers like SMN2 copy number therapeutic biomarkers for SMA with known relevance for neuromuscular transmission are lacking. Here, we examined the potential of Thrombospondin-4 (TSP4) to serve as a cerebrospinal fluid (CSF) biomarker, which may also indicate treatment response.</p><p><strong>Methods: </strong>We used untargeted proteomic analyses to determine biomarkers in CSF samples derived from pediatric pre-symptomatic (n = 6) and symptomatic (n = 4) SMA patients. The identified biomarker TSP4 was then validated in additional 68 CSF samples (9 adult and 24 pediatric SMA patients, 5 adult and 13 pediatric non-disease controls in addition to 17 pediatric disease controls) by enzyme-linked immunosorbent assay (ELISA) as an additional analytical approach.</p><p><strong>Results: </strong>Untargeted proteomic analyses of CSF identified a dysregulation of TSP4 and revealed a difference between pre-symptomatic SMA patients and patients identified after the onset of first symptoms. Subsequent ELISA-analyses showed that TSP4 is decreased in pediatric but not adult SMA patients. CSF of pediatric patients with other neurological disorders demonstrated no alteration of TSP4 levels. Furthermore, CSF TSP4 levels of pediatric SMA patients increased after first dose of Nusinersen.</p><p><strong>Conclusions: </strong>We found that TSP4 levels are exclusively reduced in CSF of pediatric SMA patients and increase after treatment, leading us to the hypothesis that TSP4 could serve as a CSF biomarker with the potential to monitor treatment response in pediatric SMA patients. Moreover, TSP4 enable to distinguish pre-symptomatic and symptomatic patients suggesting a potential to serve as a stratification marker.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":null,"pages":null},"PeriodicalIF":4.8,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11446971/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142140359","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 to: Fatigue in multiple sclerosis: can we measure it and can we treat it?","authors":"John DeLuca","doi":"10.1007/s00415-024-12630-8","DOIUrl":"10.1007/s00415-024-12630-8","url":null,"abstract":"","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":null,"pages":null},"PeriodicalIF":4.8,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11457685/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142140357","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}