Journal of Neurology最新文献

{"title":"Hearing impairment and dementia: cause, catalyst or consequence?","authors":"Benjamin A Levett, Avinash Chandra, Jessica Jiang, Nehzat Koohi, Dale Sharrad, Lucy B Core, Jeremy C S Johnson, Madison Tutton, Tim Green, Dona M P Jayakody, Jin-Tai Yu, Iracema Leroi, Charles R Marshall, Doris-Eva Bamiou, Chris J D Hardy, Jason D Warren","doi":"10.1007/s00415-025-13140-x","DOIUrl":"10.1007/s00415-025-13140-x","url":null,"abstract":"<p><p>The relationship between hearing impairment and dementia has attracted significant attention, the 2024 Lancet Commission report identifying hearing loss as the largest modifiable risk factor for dementia from mid-life. The nature of this linkage between dementia and hearing remains unclear and is likely to be complex. In principle, hearing impairment could cause (directly promote), catalyze (amplify) or be a consequence of neurodegenerative pathology and cognitive decline. Here we use this framework to examine different lines of evidence for the association between hearing impairment and dementia, and consider how this evidence speaks to potential mechanisms and treatment implications. We conclude by considering practical clinical implications for management of patients with hearing impairment and dementia, the potential role for central hearing tests as 'auditory biomarkers' of dementia, and the need for further collaborative and mechanistically motivated research in this area.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 6","pages":"402"},"PeriodicalIF":4.8,"publicationDate":"2025-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12084262/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144078524","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 role of serum neurofilament light (sNfL) as a biomarker in multiple sclerosis: insights from a systematic review.","authors":"Mark S Freedman, Ahmed Abdelhak, Mohit K Bhutani, Jason Freeman, Sharmilee Gnanapavan, Salman Hussain, Sheshank Madiraju, Friedemann Paul","doi":"10.1007/s00415-025-13093-1","DOIUrl":"10.1007/s00415-025-13093-1","url":null,"abstract":"<p><strong>Objective: </strong>This systematic literature review (SLR) was conducted to explore the role of serum neurofilament light chain (sNfL) as a biomarker in multiple sclerosis (MS) disease management.</p><p><strong>Methods: </strong>The review was conducted in accordance with the recommendation laid by the Cochrane Handbook for Systematic Reviews. A comprehensive literature search was performed in key biomedical databases (EMBASE^®, MEDLINE^®, MEDLINE^®-In-Process, and all Evidence-Based Medicine [EBM] Reviews databases) to retrieve studies reporting the association between sNfL and disease activity in patients with MS. Additional evidence was also identified through hand searching of key conference proceedings and gray literature.</p><p><strong>Results: </strong>Following review of 1831 records, 75 studies from 180 publications were included in the review. The studies included in the SLR consistently demonstrated an association between higher sNfL levels and an increased risk of future relapses within 2 years and MS disease progression. Higher levels of sNfL were also linked to an increased likelihood of experiencing gadolinium-enhancing T1 and T2 lesions. Patients with lower sNfL levels had a higher likelihood of achieving no evidence of disease activity status. Furthermore, an inverse correlation was observed between sNfL levels and cognitive impairment as assessed via the Symbol Digit Modalities Test performance and Timed 25-Foot Walk scores.</p><p><strong>Conclusion: </strong>This SLR demonstrates the significance of sNfL as a sensitive biomarker for monitoring MS progression. Convenient and reliable sNfL measurement could benefit routine clinical practice, providing clinicians with a simple and effective tool to monitor disease and treatment response.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 6","pages":"400"},"PeriodicalIF":4.8,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12081536/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144078451","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":"Hashimoto's encephalopathy with diffuse leukoencephalopathy: serial MRI and gait analysis.","authors":"Yoon Seob Kim, In Ja Shin, Don Gueu Park, Jung Han Yoon","doi":"10.1007/s00415-025-13132-x","DOIUrl":"10.1007/s00415-025-13132-x","url":null,"abstract":"","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 6","pages":"399"},"PeriodicalIF":4.8,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144078521","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":"Fenfluramine: an effective treatment for developmental epileptic encephalopathies beyond Dravet and Lennox-Gastaut Syndromes.","authors":"Victor Soto-Insuga, David Conejo Moreno, Elena González-Alguacil, Angel Aledo Serrano, Virginia Navarro Abia, Anna Gretel Pinzón-Acevedo, Nuria Lamagrande Casanova, Anna Duat Rodríguez, Verónica Cantarín Extremera, Juan José García Peñas","doi":"10.1007/s00415-025-13135-8","DOIUrl":"10.1007/s00415-025-13135-8","url":null,"abstract":"<p><strong>Background: </strong>Fenfluramine (FFA) is an antiseizure medication (ASM) with effectiveness in Dravet Syndrome (DS) and Lennox-Gastaut syndrome (LGS), but unknown effectiveness in other developmental epileptic encephalopathies (DEEs).</p><p><strong>Methods: </strong>This multicenter, retrospective study evaluated the efficacy and tolerability of FFA in children with DS, LGS and other DEEs within clinical practice. Data were extracted from patients' charts before and up to 6 months after treatment.</p><p><strong>Results: </strong>Fifty-four patients (median age 10 years; 67% male) with DS (n = 17), LGS (n = 20), or other DEE (n = 17) were included. At three months following FFA treatment, the proportion of responders (≥ 50% reduction in seizure frequency) was significantly higher in patients with DS (94%) compared with LGS (50%; p = 0.003) and other DEEs (47%; p = 0.003). No significant difference in responder rates was observed between the LGS and other DEE groups. FFA efficacy was independent of dosage, concomitant ASMs, epilepsy duration, etiology, or specific comorbidities. FFA demonstrated effectiveness across all seizure types, with particular efficacy in tonic-clonic seizures. Responders experienced improvements in physician-assessed seizure intensity; 56-91% showed improvements in other Clinical Global Impression domains, including cognition, behavior, sleep, and seizure severity. Adverse events occurred in 56% of patients and were predominantly mild, with somnolence, anorexia, and irritability the most common. Treatment discontinuation due to AEs occurred in three patients (1 LGS, 2 other DEEs).</p><p><strong>Conclusion: </strong>FFA demonstrates effectiveness and tolerability in patients with DEEs in a real-world setting, and has potential as a broad-spectrum ASM, effective across a wide range of DEEs, seizure types, and patient profiles.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 6","pages":"397"},"PeriodicalIF":4.8,"publicationDate":"2025-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144023708","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":"Ravulizumab for generalized Myasthenia Gravis: a multicenter real-life experience.","authors":"Elena Rossini, Vincenzo Di Stefano, Raffaele Iorio, Francesco Habetswallner, Michelangelo Maestri, Claudia Vinciguerra, Elena Maria Pennisi, Giuseppe Di Martino, Nicasio Rini, Silvia Falso, Sofia Marini, Dario Ricciardi, Melania Guida, Stefania Morino, Matteo Garibaldi, Luca Leonardi, Demetrio Marando, Laura Tufano, Giovanni Antonini, Laura Fionda","doi":"10.1007/s00415-025-13127-8","DOIUrl":"10.1007/s00415-025-13127-8","url":null,"abstract":"<p><strong>Introduction: </strong>Ravulizumab, a monoclonal antibody targeting C5, was recently approved for the treatment of anti-AChR positive generalized myasthenia gravis (gMG) patients. The objective of this study is to present the Italian multicenter real-world experience evaluating the safety and efficacy of ravulizumab in gMG within the context of the Expanded Early Access Program (EAP).</p><p><strong>Methods: </strong>We conducted a retrospective study in 7 gMG referral centres in Italy. Demographic and clinical characteristics were recorded at baseline and during follow-up through clinical scale changes including Myasthenia Gravis-Activities of Daily Living (MG-ADL), Quantitative Myasthenia Gravis (QMG) and Myasthenia Gravis Composite (MGC). Frequency of minimal symptom expression (MSE) and changes in concomitant medications were also evaluated.</p><p><strong>Results: </strong>Twenty-four gMG patients (10/24 females) aged between 24 and 82 years (Median 60.5, IQR 52.5-67.5), were included. Fifteen patients had undergone thymectomy, and 14 had a thymoma. Median follow-up duration was 26 weeks (range 10-74, IQR 26-42). MG-ADL and QMG scores showed a significant decrease with respect to baseline (p < 0.001). MSE was achieved by 37.5% patients at the last available follow-up. Tapering of prednisone daily dosage was possible in 76% of patients. Thymoma was significantly associated with QMG score reduction and the frequency of QMG responders at week 2 (p = 0.03). Three patients discontinued treatment. One patient experienced a myasthenic exacerbation and needed rescue therapy. Infectious adverse events were reported in 5/24 patients, and a Stevens-Johnson syndrome in one patient.</p><p><strong>Conclusions: </strong>Real-world data confirm the effectiveness, safety, and prednisone-sparing effect of ravulizumab in patients with gMG, especially in those with thymoma.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 6","pages":"396"},"PeriodicalIF":4.8,"publicationDate":"2025-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12078421/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144017706","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, mood, and fatigue in various multiple sclerosis subtypes: a one-year follow-up study.","authors":"Daniela Taranu, Luisa T Balz, Jill Holbrook, Visal Tumani, Herbert Schreiber, Hayrettin Tumani, Ingo Uttner","doi":"10.1007/s00415-025-13115-y","DOIUrl":"10.1007/s00415-025-13115-y","url":null,"abstract":"<p><strong>Background: </strong>Multiple sclerosis (MS) subtypes-relapsing-remitting (RRMS), secondary-progressive (SPMS), and primary-progressive (PPMS) - have been associated with distinct cognitive impairment profiles, with progressive subtypes, in contrast to RRMS, showing additional deficits in more widespread domains. Research has largely focused on RRMS, leaving SPMS and PPMS underexplored due to their lower prevalence and limited therapeutic targeting. Data on the interplay between cognitive impairment, mood, and fatigue over time are also scarce. This study examined cognition, fatigue, and psychopathology over a period of one year to identify subtype-specific impairments and progression trajectories.</p><p><strong>Methods: </strong>Sixty-six MS patients (22 each with RRMS, SPMS, and PPMS) and 22 healthy controls (HC) were assessed using neuropsychological tests for attention, memory, processing speed, working memory, fluency and visuospatial functions. Patient-reported outcomes for depression, anxiety, and fatigue were also collected. Analyses included correlations, within-group comparisons (paired t-tests), and between-group comparisons (ANOVAs/ANCOVAs).</p><p><strong>Results: </strong>Progressive MS subtypes exhibited more severe cognitive impairments, fatigue, and mood disturbances than RRMS. Over one year, treated RRMS patients improved in various cognitive domains, while PPMS patients showed gains only in visuospatial abilities. On the other hand, SPMS patients exhibited no significant changes, suggesting more pronounced cognitive deficits.</p><p><strong>Conclusions: </strong>Cognitive impairments differed significantly across MS subtypes. While RRMS patients improved over one year and PPMS patients showed selective gains in one domain, SPMS showed no significant changes, indicating reduced cognitive reserve. These between-group differences suggest different cognitive trajectories. The findings underscore the need for tailored, holistic interventions for different MS subtypes.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 6","pages":"398"},"PeriodicalIF":4.8,"publicationDate":"2025-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12078348/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143988687","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 outcomes of endovascular therapy in acute basilar artery occlusion with low pc-ASPECTS : Outcomes in ABAO with low pc-ASPECTS.","authors":"Xiaolei Gong, Miao Chai, Xiaolin Tan, Linyu Li, Changwei Guo, Jie Yang, Guojian Liu, Lilan Wang, Xiaolie Shi, Shihai Yang, Jinfu Ma, Xu Xu, Dahong Yang, Wenzhe Sun, Shitao Fan, Jiaxing Song, Wenjie Zi, Zhenchang Zhang","doi":"10.1007/s00415-025-13144-7","DOIUrl":"10.1007/s00415-025-13144-7","url":null,"abstract":"<p><strong>Background: </strong>The effectiveness and safety of endovascular therapy (EVT) in patients with Acute Basilar Artery Occlusion (ABAO) with low pc-ASPECTS is unclear.</p><p><strong>Objective: </strong>To evaluate the effectiveness and safety of EVT in ABAO patients with low pc-ASPECTS.</p><p><strong>Methods: </strong>We analyzed 199 ABAO patients with pc-ASPECTS ≤ 6 who were prospectively registered in the BASILAR study. The patients were divided into the standard medical treatment group (SMT group) and the endovascular therapy group (EVT group). We compared the differences between the two groups in terms of primary outcomes (mRS scores of 0-3, 0-2 and 0-1 at 1 year), secondary outcomes (mRS scores of 0-3, 0-2 and 0-1 at 90 days), primary safety outcomes (symptomatic intracranial haemorrhage at 48 h, mortality at 90 days).</p><p><strong>Results: </strong>Among the 199 patients, 134 (67.34%) were in the EVT group. Compared with the SMT group, the EVT group showed a significantly higher likelihood of achieving mRS score of 0-3 [adjusted OR [aOR] 21.17, 95% CI (2.08-215.43), P = 0.010] and mRS score of 0-2 [aOR 16.34, 95% CI (1.64-163.32), P = 0.017] at 1 year. There was no significant difference in safety outcomes at 90 days between the two groups.</p><p><strong>Conclusions: </strong>EVT improves long-term clinical outcomes in ABAO patients with pc-ASPECTS ≤ 6, patients undergoing EVT demonstrated significantly better functional outcomes at 1 year compared to those receiving SMT, with no significant difference in mortality at 90 days. Overall, ABAO patients treated with EVT achieve both effective and safe outcomes.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 6","pages":"395"},"PeriodicalIF":4.8,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144040550","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":"Associations between Aβ40, Aβ42, and tau and postoperative delirium in older adults undergoing cardiac surgery.","authors":"Tina B McKay, Matthew Smith, Ariel Mueller, Haobo Li, Pooja H Patel, Isaac G Freedman, Jason Z Qu, Oluwaseun Akeju","doi":"10.1007/s00415-025-13145-6","DOIUrl":"10.1007/s00415-025-13145-6","url":null,"abstract":"<p><strong>Background: </strong>Postoperative delirium is a significant complication in older adults undergoing cardiac surgery. This study investigated associations between serum amyloid beta (Aβ40, Aβ42), their ratio Aβ42/Aβ40 (AβR), and total tau (tTau) and postoperative delirium.</p><p><strong>Methods: </strong>This analysis included participants aged ≥ 60 years undergoing elective cardiac surgery with cardiopulmonary bypass. Serum Aβ40, Aβ42 and tTau were measured before surgery and on postoperative day one using a digital immunoassay. The primary outcome was postoperative delirium, assessed twice daily for 3 days using the Confusion Assessment Method.</p><p><strong>Results: </strong>Postoperative delirium developed in 12% (38/312) of participants. In adjusted analyses examining preoperative biomarkers, the odds of postoperative delirium were independently associated with Aβ40 (OR 1.44 per standard deviation increase, 95% CI 1.06-1.98; p = 0.021), AβR (OR 0.65, 95% CI 0.42-0.99; p = 0.046), and tTau (OR 1.65, 95% CI 1.01-2.68; p = 0.045). Aβ42 was statistically significant only in unadjusted analyses (OR 1.43, 95% CI 1.00-1.88; p = 0.012). In adjusted analyses examining postoperative biomarkers, the odds of postoperative delirium were independently associated with Aβ42 (OR 1.60, 95% CI 1.08-2.37; p = 0.020) and tTau (OR 1.56, 95% CI 1.09-2.23; p = 0.015).</p><p><strong>Conclusions: </strong>Aβ40, AβR, and tTau were associated with postoperative delirium in elderly patients undergoing elective cardiac surgery. These findings suggest that postoperative delirium may be linked to pre-existing vulnerabilities shared with neurodegenerative processes along the Alzheimer's disease spectrum, offering new insights into its underlying mechanisms and potential connection to long-term cognitive decline.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 6","pages":"393"},"PeriodicalIF":4.8,"publicationDate":"2025-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143998720","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":"Monoclonal antibody administration in an academic institution and private neurological practice: a tale of two clinics.","authors":"Michael Rosenbloom, Andrea Schnee, Saanvi Nimma, Helen Lutz, Dan Gzesh, David Weisman","doi":"10.1007/s00415-025-13142-9","DOIUrl":"10.1007/s00415-025-13142-9","url":null,"abstract":"<p><p>The emergence of monoclonal antibody (MABs) drugs since the FDA approval of lecanemab has resulted in dramatic changes in the clinical approach and management of early-stage Alzheimer's disease (AD). Challenges with MAB adoption into clinical practice may vary depending on whether the institution is an academic/integrated healthcare organization versus a private neurological practice. We have combined demographic and clinical data from a high-volume East coast private neurology practice and a West coast academic memory clinic at post-MAB adoption. Combined data of N = 165 patient showed the following demographics: mean age 72, 67% female, 92% Caucasian, average MOCA 18/30 with amyloid status confirmed by CSF in 72% of patients. Overall, ARIA rates were 8% for ARIA-E and 7% for ARIA-H, and there were no mortalities over the observation period. Three patients required immediate medical attention due to ARIA radiographic findings associated with clinical symptoms. The private practice enrolled patients with lower average cognitive screening scores than the academic practice, but was more efficient at initiation therapy (mean # of weeks between diagnosis and treatment 97 versus 149 days). The average patient out-of-pocket cost was ($654.38) significantly less than the 20% of the annual drug cost as previously estimated. The findings from two separate clinical environments support the notion that ARIA risk associated with lecanemab is no greater than what was found in the CLARITY-AD trial and that the costs to the patient were less than predicted. This study was limited by the lack of 12 month efficacy data. Additional real-world data relating to the clinical effectiveness of MAB use in clinical practice will be necessary to best determine the risk/benefit ratio of these drugs in community populations.</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 6","pages":"394"},"PeriodicalIF":4.8,"publicationDate":"2025-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143970580","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":"New developments in imaging in ALS.","authors":"Jana Kleinerova, Giorgia Querin, Pierre-Francois Pradat, We Fong Siah, Peter Bede","doi":"10.1007/s00415-025-13143-8","DOIUrl":"10.1007/s00415-025-13143-8","url":null,"abstract":"<p><p>Neuroimaging in ALS has contributed considerable academic insights in recent years demonstrating genotype-specific topological changes decades before phenoconversion and characterising longitudinal propagation patterns in specific phenotypes. It has elucidated the radiological underpinnings of specific clinical phenomena such as pseudobulbar affect, apathy, behavioural change, spasticity, and language deficits. Academic concepts such as sexual dimorphism, motor reserve, cognitive reserve, adaptive changes, connectivity-based propagation, pathological stages, and compensatory mechanisms have also been evaluated by imaging. The underpinnings of extra-motor manifestations such as cerebellar, sensory, extrapyramidal and cognitive symptoms have been studied by purpose-designed imaging protocols. Clustering approaches have been implemented to uncover radiologically distinct disease subtypes and machine-learning models have been piloted to accurately classify individual patients into relevant diagnostic, phenotypic, and prognostic categories. Prediction models have been developed for survival in symptomatic patients and phenoconversion in asymptomatic mutation carriers. A range of novel imaging modalities have been implemented and 7 Tesla MRI platforms are increasingly being used in ALS studies. Non-ALS MND conditions, such as PLS, SBMA, and SMA, are now also being increasingly studied by quantitative neuroimaging approaches. A unifying theme of recent imaging papers is the departure from describing focal brain changes to focusing on dynamic structural and functional connectivity alterations. Progressive cortico-cortical, cortico-basal, cortico-cerebellar, cortico-bulbar, and cortico-spinal disconnection has been consistently demonstrated by recent studies and recognised as the primary driver of clinical decline. These studies have led the reconceptualisation of ALS as a \"network\" or \"circuitry disease\".</p>","PeriodicalId":16558,"journal":{"name":"Journal of Neurology","volume":"272 6","pages":"392"},"PeriodicalIF":4.8,"publicationDate":"2025-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12069492/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144007561","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}