BMJ Neurology Open最新文献

{"title":"Long-read sequencing for diagnosis of genetic myopathies.","authors":"Dennis Yeow, Laura Ivete Rudaks, Ryan Davis, Karl Ng, Roula Ghaoui, Pak Leng Cheong, Gianina Ravenscroft, Marina Kennerson, Ira Deveson, Kishore Raj Kumar","doi":"10.1136/bmjno-2024-000990","DOIUrl":"https://doi.org/10.1136/bmjno-2024-000990","url":null,"abstract":"<p><p>Genetic myopathies are caused by pathogenic variants in >300 genes across the nuclear and mitochondrial genomes. Although short-read next-generation sequencing (NGS) has revolutionised the diagnosis of genetic disorders, large and/or complex genetic variants, which are over-represented in the genetic myopathies, are not well characterised using this approach. Long-read sequencing (LRS) is a newer genetic testing technology that overcomes many of the limitations of NGS. In particular, LRS provides improved detection of challenging variant types, including short tandem repeat (STR) expansions, copy number variants and structural variants, as well as improved variant phasing and concurrent assessment of epigenetic changes, including DNA methylation. The ability to concurrently detect multiple STR expansions is particularly relevant given the growing number of recently described genetic myopathies associated with STR expansions. LRS will also aid in the identification of new myopathy genes and molecular mechanisms. However, use of LRS technology is currently limited by high cost, low accessibility, the need for specialised DNA extraction procedures, limited availability of LRS bioinformatic tools and pipelines, and the relative lack of healthy control LRS variant databases. Once these barriers are addressed, the implementation of LRS into clinical diagnostic pipelines will undoubtedly streamline the diagnostic algorithm and increase the diagnostic rate for genetic myopathies. In this review, we discuss the utility and critical impact of LRS in this field.</p>","PeriodicalId":52754,"journal":{"name":"BMJ Neurology Open","volume":"7 1","pages":"e000990"},"PeriodicalIF":2.1,"publicationDate":"2025-05-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12067802/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143995639","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Long-standing overt ventriculomegaly in adults (LOVA) as a distinct entity on the neurologist's differential: a narrative review.","authors":"Racheed Mani, Jade Basem, Guy Schwartz, Michael Egnor","doi":"10.1136/bmjno-2024-001021","DOIUrl":"https://doi.org/10.1136/bmjno-2024-001021","url":null,"abstract":"<p><p>Long-standing overt ventriculomegaly in adults (LOVA) has been posited as a form of progressive hydrocephalus, with similar clinical and radiographic features to normal pressure hydrocephalus (NPH), but which should be understood as a distinct clinical entity. We conducted a narrative review analysing the literature into LOVA as a distinct form of hydrocephalus with its own clinical and radiographic characteristics and treatment modalities. LOVA is characterised by triventriculomegaly, an Evans' index of ≥0.4, presenting with progressive symptoms of elevated intracranial pressure after an initial arrest in childhood and head circumferences≥2 SD above the mean. Endoscopic third ventriculostomy is considered the first-line treatment. Shunting is equally effective but confers a higher complication risk profile. LOVA represents a progressive form of hydrocephalus with certain clinical and radiographic features which overlap with NPH, but is a distinct entity which should be on the neurologist's differential.</p>","PeriodicalId":52754,"journal":{"name":"BMJ Neurology Open","volume":"7 1","pages":"e001021"},"PeriodicalIF":2.1,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12049972/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144008303","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Reversible cerebral vasoconstriction syndrome in idiopathic multicentric Castleman disease under treatment with tocilizumab.","authors":"Naoya Kamimura, Naohisa Ueda, Katsuo Kimura, Asami Nishikori, Yasuharu Sato, Hitaru Kishida, Fumiaki Tanaka","doi":"10.1136/bmjno-2024-000923","DOIUrl":"https://doi.org/10.1136/bmjno-2024-000923","url":null,"abstract":"<p><strong>Background: </strong>Idiopathic multicentric Castleman disease (iMCD) is a rare polyclonal lymphoproliferative disorder characterised by systemic inflammation resulting from overproduction of interleukin 6 (IL-6). While iMCD primarily affects the lymph nodes and related tissues, it can also rarely involve the central nervous system.</p><p><strong>Case presentation: </strong>We report the case of a 58-year-old female patient with at least a 3-year history of iMCD, who experienced acute thunderclap headaches due to reversible cerebral vasoconstriction syndrome (RCVS). RCVS occurred 3 months after initiating treatment with tocilizumab, a humanised anti-IL-6 receptor monoclonal antibody, and was accompanied by focal cortical subarachnoid haemorrhage (SAH). Elevated IL-6 levels were found in both serum and cerebrospinal fluid. MR angiography revealed multiple diffuse stenotic lesions in the bilateral middle and posterior cerebral arteries, which, along with bilateral cerebral oedema, resolved within 3 months. The diffuse nature of the cerebral vasospasm and the presence of bilateral brain oedema suggested that cerebral vasospasm was due to RCVS rather than SAH.</p><p><strong>Conclusions: </strong>In patients with Castleman disease, RCVS may occur due to IL-6-dependent chronic cerebral vascular inflammation, either as a primary condition or as a complication of tocilizumab treatment.</p>","PeriodicalId":52754,"journal":{"name":"BMJ Neurology Open","volume":"7 1","pages":"e000923"},"PeriodicalIF":2.1,"publicationDate":"2025-04-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12035478/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144039326","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Seasonality in benign paroxysmal positional vertigo: a systematic review.","authors":"Mads Bertelsen, Mads Klokker","doi":"10.1136/bmjno-2025-001050","DOIUrl":"https://doi.org/10.1136/bmjno-2025-001050","url":null,"abstract":"<p><strong>Background: </strong>Benign paroxysmal positional vertigo (BPPV) is the most common cause of dizziness with a lifetime prevalence of up to 2.4%. However, pathophysiology and risk factors for BPPV have not yet been fully clarified.</p><p><strong>Objective: </strong>To systematically examine and discuss seasonal variation in BPPV and the possible relationship between BPPV and climatic variables such as temperature, atmospheric pressure, solar exposure factors, and humidity.</p><p><strong>Methods: </strong>A systematic search was conducted in PubMed and Embase based on a search string with main components BPPV, seasonal variation and climate. Search results were only included if they met the predetermined inclusion criteria. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines were followed, and the AXIS tool was used to assess the quality of the included articles.</p><p><strong>Results: </strong>12 studies with a total of 18 507 subjects were included. Nine out of 11 studies showed seasonal variation in BPPV, with the majority of these showing an increase in BPPV during the winter months. Four out of six studies showed a negative correlation between temperature and BPPV, three out of four studies showed a positive correlation between atmospheric pressure and BPPV, while three out of five studies showed a negative correlation between solar exposure factors and BPPV. Three out of three studies showed no correlation between humidity and BPPV.</p><p><strong>Conclusions: </strong>Most of the existing literature indicates that there is a seasonal variation in BPPV, with a predominance of BPPV in the winter months. However, the existing literature is only suggestive of the relationship between the examined climatic variables and BPPV.</p>","PeriodicalId":52754,"journal":{"name":"BMJ Neurology Open","volume":"7 1","pages":"e001050"},"PeriodicalIF":2.1,"publicationDate":"2025-04-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12035464/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144040323","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"MOG positive primary autoimmune meningitis mimicking tuberculous meningitis: a case series.","authors":"Tejas Shivarthi, Mahima Sriram, Muddana Nikhilesh, Sudheeran Kannoth, Vivek Nambiar, Siby Gopinath, Saraf Udit Umesh, Gopikrishnan Unnikrishnan, Anand Kumar, Annamma Mathai, Meena Thevarkalam","doi":"10.1136/bmjno-2024-000999","DOIUrl":"https://doi.org/10.1136/bmjno-2024-000999","url":null,"abstract":"<p><strong>Objectives: </strong>Primary autoimmune meningitis presentation of myelin oligodendrocyte glycoprotein (MOG) IgG antibody positivity is infrequently reported. We aim to identify the patients with MOG IgG antibody positivity who were initially misdiagnosed and treated as tuberculous meningitis (TBM).</p><p><strong>Methods: </strong>A retrospective cross-sectional study conducted in the Neuroimmunology Laboratory and Department of Neurology of Amrita Institute of Medical Sciences, Kochi, Kerala, India between June 2018 and December 2023. MOG IgG antibody positive cases were identified from the Neuroimmunology Lab Registry, and the case sheets were screened for TBM-like presentation. Cases were included on the basis of MOG IgG positivity, an initial diagnosis of tuberculosis was suspected and antitubercular therapy was initiated with minimal response.</p><p><strong>Results: </strong>We described the clinical, microbiological, radiological and serological features of five patients with a TBM-like presentation eventually diagnosed with MOG-associated meningitis. Symptoms included headache, vomiting, visual impairment and weakness. Three patients showed normal MRIs and two patients showed MRI findings consistent with demyelination. Serum MOG antibody testing was positive only on serial testing of all five patients. The final diagnosis was MOG-associated meningitis in two patients and MOG-associated meningoencephalitis in three patients.</p><p><strong>Discussion: </strong>This case series highlights the rare presentation of MOG antibody positive patients presenting as primary autoimmune meningitis and its diagnostic challenges, especially in regions where tuberculosis is common. The study underscores the importance of considering autoimmune aetiology as a differential diagnosis when tuberculosis treatment fails or relapses occur, advocating for MOG IgG antibody testing to ensure accurate diagnosis and effective treatment.</p>","PeriodicalId":52754,"journal":{"name":"BMJ Neurology Open","volume":"7 1","pages":"e000999"},"PeriodicalIF":2.1,"publicationDate":"2025-04-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12035451/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144008239","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Different patterns of fasciculation in spinal and bulbar muscular atrophy and amyotrophic lateral sclerosis: a muscle ultrasonographic study.","authors":"Takeru Nara, Kazumoto Shibuya, Shinobu Ikeda, Ryota Kuroiwa, Ryo Otani, Moeko Ogushi, Tomoki Suichi, Yuki Shiko, Kohei Takahashi, Sonoko Misawa, Astushi Murata, Satoshi Kuwabara","doi":"10.1136/bmjno-2025-001065","DOIUrl":"https://doi.org/10.1136/bmjno-2025-001065","url":null,"abstract":"<p><strong>Background: </strong>The usefulness of muscle ultrasonography for detection of fasciculations has been increasingly recognised, particularly in amyotrophic lateral sclerosis (ALS). This study aimed to elucidate distributions and characteristics of fasciculations in spinal and bulbar muscular atrophy (SBMA) and to compare the results of those in ALS.</p><p><strong>Methods: </strong>In 24 SBMA and 16 ALS patients, muscle ultrasonography was systematically performed in the tongue, upper limb muscles (biceps brachii, triceps brachii, first dorsal interosseous (FDI), abductor pollicis brevis and abductor digiti minimi), trunk muscles (Th10 paraspinals and rectus abdominis) and lower limb muscles (vastus lateralis, biceps femoris, tibialis anterior and gastrocnemius). We assessed the presence of fasciculations and the fasciculation intensity (scored from 0 to 3) for each muscle.</p><p><strong>Results: </strong>All SBMA and ALS patients showed fasciculations at least in two muscles. In SBMA patients, fasciculations were most frequently found in the tongue (100%), FDI (93%) and tibialis anterior (80%), whereas less frequently present in the proximal limb and trunk muscles, irrespective of age, disease duration and CAG repeat numbers. By contrast, in ALS patients, fasciculations were more diffusely distributed including the proximal limb and trunk muscles. When fasciculations were present, the intensity was higher in ALS patients, except for the tongue.</p><p><strong>Conclusions: </strong>Whereas both diseases exhibit extensive fasciculations, the distribution and intensity are different. SBMA is characterised by prominent involvement in the tongue and distal limb muscles, suggesting different pathophysiology of motor neuronal death in SBMA and ALS.</p>","PeriodicalId":52754,"journal":{"name":"BMJ Neurology Open","volume":"7 1","pages":"e001065"},"PeriodicalIF":2.1,"publicationDate":"2025-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12035469/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144058103","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Fundoscopy as a diagnostic biomarker in idiopathic normal pressure hydrocephalus: a pilot study.","authors":"Mathias Just Nortvig, Niclas Lynge Eriksen, Mikkel C Schou Andersen, Emma Tubæk Nielsen, Sune Munthe, Christian Bonde Pedersen, Frantz Rom Poulsen","doi":"10.1136/bmjno-2025-001103","DOIUrl":"https://doi.org/10.1136/bmjno-2025-001103","url":null,"abstract":"<p><strong>Background: </strong>Idiopathic normal pressure hydrocephalus (iNPH) has a prevalence of approximately 5%. It is characterised by Hakim's triad of impaired gait, cognitive dysfunction and urinary incontinence. Despite radiological markers and liquor-dynamic tests, iNPH is difficult to diagnose due to many overlapping symptoms. The aim of this study was to evaluate funduscopy as a noninvasive method of screening patients with suspected iNPH.</p><p><strong>Methods: </strong>Patients with suspected iNPH who underwent a lumbar infusion test (LIT) were included. Funduscopy was performed before the start of the LIT, and intracranial pressure (ICP) was continually measured via lumbar cannulation. Retinal images were analysed using an artificial intelligence algorithm to determine the arteriole-venule (A/V) ratio. The A/V ratio and ICP measurements were compared with the iNPH diagnosis. In addition, the mean difference in shunt response was evaluated.</p><p><strong>Results: </strong>A significantly lower mean A/V ratio was found in the iNPH group compared with the non-iNPH group (p value: 0.02). Receiver operating characteristic curve analysis with an area under the curve of 0.75 showed a sensitivity of 88% and a specificity of 50% with an A/V cut-off of 0.86. Although not statistically significant, the mean A/V ratio was lower in the group with clinical shunt effect compared with those without (p value: 0.305).</p><p><strong>Conclusions: </strong>This study found a statistically significant difference in baseline A/V ratios between iNPH and non-iNPH groups. This pilot study suggests the A/V ratio might be able to serve as a screening tool for iNPH. If so, this would be highly beneficial for patients and could have significant medical and socioeconomic implications.</p>","PeriodicalId":52754,"journal":{"name":"BMJ Neurology Open","volume":"7 1","pages":"e001103"},"PeriodicalIF":2.1,"publicationDate":"2025-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12015714/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144045973","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Integrating TSPO-PET imaging with metabolomics for enhanced prognostic accuracy in multiple sclerosis.","authors":"Daniel E Radford-Smith, Abi G Yates, Tereza Kacerova, Marjo Nylund, Marcus Sucksdorff, Markus Matilainen, Eline Willemse, Johanna Oechtering, Aleksandra Maleska Maceski, David Leppert, Jens Kuhle, Fay Probert, Daniel C Anthony, Laura Airas","doi":"10.1136/bmjno-2025-001026","DOIUrl":"https://doi.org/10.1136/bmjno-2025-001026","url":null,"abstract":"<p><strong>Background: </strong>Predicting disease progression in multiple sclerosis (MS) remains challenging. PET imaging with 18 kDa translocator protein (TSPO) radioligands can detect microglial and astrocyte activation beyond MRI-visible lesions, which has been shown to be highly predictive of disease progression. We previously demonstrated that nuclear magnetic resonance (NMR)-based metabolomics could accurately distinguish between relapsing-remitting (RRMS) and secondary progressive MS (SPMS). This study investigates whether combining TSPO imaging with metabolomics enhances predictive accuracy in a similar setting.</p><p><strong>Methods: </strong>Blood samples were collected from 87 MS patients undergoing PET imaging with the TSPO-binding radioligand ¹¹C-PK11195 in Finland. Patient disability was assessed using the expanded disability status scale (EDSS) at baseline and 1 year later. Serum metabolomics was performed to identify biomarkers associated with TSPO binding and disease progression.</p><p><strong>Results: </strong>Greater TSPO availability in the normal-appearing white matter and perilesional regions correlated with higher EDSS. Serum metabolites glutamate (p=0.02), glutamine (p=0.006), and glucose (p=0.008), detected by NMR, effectively distinguished future progressors. These three metabolites alone predicted progression with the same accuracy as TSPO-PET imaging (AUC 0.78; p=0.0001), validated in an independent cohort. Combining serum metabolite data with PET imaging significantly improved predictive power, achieving an AUC of 0.98 (p<0.0001).</p><p><strong>Conclusion: </strong>Measuring three specific serum metabolites is as effective as TSPO imaging in predicting MS progression. However, integrating TSPO imaging with serum metabolite analysis substantially enhances predictive accuracy. Given the simplicity and affordability of NMR analysis, this approach could lead to more personalised, accessible treatment strategies and serve as a valuable tool for clinical trial stratification.</p>","PeriodicalId":52754,"journal":{"name":"BMJ Neurology Open","volume":"7 1","pages":"e001026"},"PeriodicalIF":2.1,"publicationDate":"2025-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12004482/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144005667","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"External validation of the MR PREDICTS@24H model: predicting functional outcome after endovascular treatment in stroke.","authors":"Jeanette Tas, Cristina Cerinza Sick, Caterina Kulyk, Bogdan-Andrei Ianosi, Patrizia Spiandorello, Milan R Vosko, Michael Sonnberger, Melanie Bergmann, Raimund Helbok","doi":"10.1136/bmjno-2024-000973","DOIUrl":"https://doi.org/10.1136/bmjno-2024-000973","url":null,"abstract":"<p><strong>Background: </strong>Chalos <i>et al</i> recently developed the MR PREDICTS@24H model to predict 90 days functional outcomes in ischaemic stroke patients following endovascular treatment (EVT). We aimed to validate this model in the real-world situation of endovascular stroke patients admitted to a tertiary care hospital.</p><p><strong>Methods: </strong>We conducted a retrospective cohort study including a selection of adult (≥18 years old) ischaemic stroke patients eligible for EVT in a tretiary care center between January 2014 and May 2023. Model performance was assessed using C-statistics for discrimination and calibration plots for goodness of fit.</p><p><strong>Results: </strong>Among 254 eligible stroke patients, the model demonstrates a strong discriminatory performance for both functional independence (C-statistics 0.92; 95% CI 0.88 to 0.95) and survival (C-statistic 0.83; 95% CI 0.76 to 0.90). Compared with the MR CLEAN Registry, no significant differences were observed in discriminative ability (functional independence: z-score 0.54, p=0.590; survival: z-score -1.66, p=0.0962).</p><p><strong>Conclusions: </strong>The MR PREDICTS@24H model reliably predicts outcomes in a real-world setting and may help clinicians in the communication with patient relatives.</p>","PeriodicalId":52754,"journal":{"name":"BMJ Neurology Open","volume":"7 1","pages":"e000973"},"PeriodicalIF":2.1,"publicationDate":"2025-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12004460/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144043038","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"FVC-DiP correlates with neurofilament light chain levels in serum and cerebrospinal fluid in patients with ALS.","authors":"Yuko Kobayakawa, Senri Ko, Takumi Tashiro, Guzailiayi Maimaitijiang, Jun-Ichi Kira, Junji Kishimoto, Ryo Yamasaki, Noriko Isobe","doi":"10.1136/bmjno-2024-001012","DOIUrl":"10.1136/bmjno-2024-001012","url":null,"abstract":"<p><strong>Background: </strong>We previously reported a scale to assess the disease progression rate in patients with amyotrophic lateral sclerosis (ALS), the forced vital capacity decline pattern scale (FVC-DiP). In this study, we investigated the association between FVC-DiP scores and neurofilament light chain (NfL) in the serum and cerebrospinal fluid (CSF) in patients with ALS.</p><p><strong>Methods: </strong>We performed a retrospective study to examine the association between NfL levels and the rate of disease progression (N=41). The disease progression rate was assessed using three methods: the FVC-DiP score determined using the percentage of predicted FVC (%FVC) and disease duration at the %FVC measurement, the rate of decline in the ALS Functional Rating Scale Revised (ALSFRS-R) score (ΔFS) and the rate of decline in the %FVC (Δ%FVC).</p><p><strong>Results: </strong>The FVC-DiP scores were significantly correlated with NfL levels in both the serum and CSF (serum, R²=0.274, p<0.001; CSF, R²=0.274, p=0.001). Patients assessed as rapidly progressing by the FVC-DiP had high NfL levels, and patients assessed as slowly progressing had low NfL levels. In the group with a low ΔFS and/or Δ%FVC, although the disease progression rate assessed by the FVC-DiP may have differed from the assessments obtained using the ALSFRS-R and/or %FVC, the correlation between FVC-DiP scores and serum NfL levels remained consistent.</p><p><strong>Conclusions: </strong>The FVC-DiP was significantly associated with NfL levels in the serum and CSF, suggesting that the FVC-DiP is a reasonable scale to assess the rate of ALS progression.</p>","PeriodicalId":52754,"journal":{"name":"BMJ Neurology Open","volume":"7 1","pages":"e001012"},"PeriodicalIF":2.1,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11967006/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143781881","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}