Annals of Clinical and Translational Neurology最新文献

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Longitudinal Trajectories of Digital Cognitive Biomarkers for Multiple Sclerosis.
IF 4.4 2区 医学
Annals of Clinical and Translational Neurology Pub Date : 2025-02-25 DOI: 10.1002/acn3.70015
Yi Chao Foong, Daniel Merlo, Melissa Gresle, Chao Zhu, Katherine Buzzard, Jeannette Lechner-Scott, Michael Barnett, Chenyu Wang, Bruce V Taylor, Tomas Kalincik, Trevor Kilpatrick, David Darby, Pamela Dobay, Johan van Beek, Robert Hyde, Steve Simpson-Yap, Helmut Butzkueven, Anneke van der Walt
{"title":"Longitudinal Trajectories of Digital Cognitive Biomarkers for Multiple Sclerosis.","authors":"Yi Chao Foong, Daniel Merlo, Melissa Gresle, Chao Zhu, Katherine Buzzard, Jeannette Lechner-Scott, Michael Barnett, Chenyu Wang, Bruce V Taylor, Tomas Kalincik, Trevor Kilpatrick, David Darby, Pamela Dobay, Johan van Beek, Robert Hyde, Steve Simpson-Yap, Helmut Butzkueven, Anneke van der Walt","doi":"10.1002/acn3.70015","DOIUrl":"https://doi.org/10.1002/acn3.70015","url":null,"abstract":"<p><strong>Background: </strong>Cognitive impairment is one of the most common and debilitating symptoms of relapsing-remitting multiple sclerosis (RRMS). Digital cognitive biomarkers require less time and resources and are rapidly gaining popularity in clinical settings. We examined the longitudinal trajectory of the iPad-based Processing Speed Test (PST) and predictors of PST scores.</p><p><strong>Methods: </strong>We prospectively enrolled RRMS patients between 2017 and 2021 across six Australian MS centres. Longitudinal data was analysed with mixed effect modelling and latent class mixed models. We then examined whether latent class group membership predicted confirmed decrease in correct PST responses.</p><p><strong>Results: </strong>We recruited a total of 1093 participants, of which 724 had complete baseline data with a median follow up duration of 2 years. At a population level, PST trajectory was stable. A small practice effect was present up to the 4th visit. Age, baseline disability, T2 lesion volume, male sex and depression were associated with lower correct PST responses, whilst years of education and full/part-time employment were associated with more correct PST responses. We identified four latent class trajectories of PST. The worst latent class was typified by low baseline PST and lack of a practice effect. Being in the worst latent class was associated with a greater hazard of time to sustained 5% decrease in PST (HR 2.84, 95% CI 1.16-6.94, p = 0.02).</p><p><strong>Conclusion: </strong>Worse baseline cognitive performance and lack of a practice effect predicted future cognitive decline in RRMS.</p>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":" ","pages":""},"PeriodicalIF":4.4,"publicationDate":"2025-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143497759","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}
引用次数: 0
High-Fat and Low-Carbohydrate Dietary Environments Are Linked to Reduced Idiopathic Epilepsy Incidence and Prevalence.
IF 4.4 2区 医学
Annals of Clinical and Translational Neurology Pub Date : 2025-02-25 DOI: 10.1002/acn3.70017
Duan Ni, Alistair Senior, David Raubenheimer, Stephen J Simpson, Ralph Nanan
{"title":"High-Fat and Low-Carbohydrate Dietary Environments Are Linked to Reduced Idiopathic Epilepsy Incidence and Prevalence.","authors":"Duan Ni, Alistair Senior, David Raubenheimer, Stephen J Simpson, Ralph Nanan","doi":"10.1002/acn3.70017","DOIUrl":"https://doi.org/10.1002/acn3.70017","url":null,"abstract":"<p><p>Dietary manipulations like ketogenic diets are established interventions for recalcitrant epilepsy. However, it remains unknown whether specific macronutrient exposure through dietary environments could possibly extend to primary preventive qualities, associated with changes in epilepsy disease burden (prevalence and incidence). Here, macronutrient supply, GDP, and idiopathic epilepsy disease burden data were collated from more than 150 countries from 1990 to 2018. Nutritional geometry generalized additive mixed models (GAMMs) modeling unraveled that dietary environments with high-fat and low-carbohydrate supplies were linked to lower epilepsy incidence and prevalence. Our analyses suggested a plausible primary preventive role of dietary manipulations for epilepsy.</p>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":" ","pages":""},"PeriodicalIF":4.4,"publicationDate":"2025-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143497757","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}
引用次数: 0
Clinical impact and safety of brain biopsy in unexplained central nervous system disorders: a real-world cohort study.
IF 4.4 2区 医学
Annals of Clinical and Translational Neurology Pub Date : 2025-02-21 DOI: 10.1002/acn3.70000
Robin W van Steenhoven, Saan Salih, Juna M de Vries, Ide Smets, Rob M Verdijk, Mayke Gardeniers, Jeroen Kerstens, Juliette Brenner, Yvette S Crijnen, Marjolein Geurts, Jacoline E C Bromberg, Corine H GeurtsvanKessel, Peter A E Sillevis Smitt, Rutger K Balvers, Maarten J Titulaer
{"title":"Clinical impact and safety of brain biopsy in unexplained central nervous system disorders: a real-world cohort study.","authors":"Robin W van Steenhoven, Saan Salih, Juna M de Vries, Ide Smets, Rob M Verdijk, Mayke Gardeniers, Jeroen Kerstens, Juliette Brenner, Yvette S Crijnen, Marjolein Geurts, Jacoline E C Bromberg, Corine H GeurtsvanKessel, Peter A E Sillevis Smitt, Rutger K Balvers, Maarten J Titulaer","doi":"10.1002/acn3.70000","DOIUrl":"https://doi.org/10.1002/acn3.70000","url":null,"abstract":"<p><strong>Objective: </strong>A substantial part of central nervous system (CNS) disorders remains unexplained, despite various new and minimally invasive diagnostic techniques. Within this rapidly developing diagnostic field, the precise role of brain biopsy is unknown. We aimed to study the clinical impact and safety of brain biopsies in unexplained CNS disorders.</p><p><strong>Methods: </strong>In this retrospective cohort study, we included all adult patients who were referred for a diagnostic work-up to our academic center with neuro-inflammatory, neuro-oncological, and neuro-infectious expertise and underwent a brain biopsy between January 2010 and December 2023. Typical cases of CNS neoplasms and infections were not analyzed. Brain biopsies were evaluated with respect to diagnostic and therapeutic impact and complication risk.</p><p><strong>Results: </strong>Brain biopsy was performed in 587 patients. Ninety-four patients with a CNS disorder of unknown cause, with 107 biopsies, were analyzed (44% female, median age 58 years). Postoperative diagnoses included brain tumors/lymphomas (37/94, 39%), inflammatory disorders (11/94, 12%), infections (8/94, 9%), autoimmune encephalitis (8/94, 9%), and primary angiitis of the CNS (4/94, 4%). Diagnostic yield of brain biopsy was 62%, increasing up to 72% after repeat biopsies, as 10 additional patients were diagnosed with a brain tumor. In 77% of patients, brain biopsy changed the treatment strategy. Symptomatic intracranial hemorrhage occurred in 4 of 107 brain biopsies (4%).</p><p><strong>Interpretation: </strong>In a selected population of patients with unexplained CNS disorders, clinical impact of brain biopsies is high, while being relatively safe. A multidisciplinary team approach is fundamental in establishing optimal indication for brain biopsy and subsequent treatment decisions.</p>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":" ","pages":""},"PeriodicalIF":4.4,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143466682","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}
引用次数: 0
High-Throughput Immunoassays for Cavin-4 IgG: A Diagnostic Tool for Immune-Mediated Rippling Muscle Disease.
IF 4.4 2区 医学
Annals of Clinical and Translational Neurology Pub Date : 2025-02-17 DOI: 10.1002/acn3.70012
Reghann G LaFrance-Corey, Haidara Kherbek, Nimalan Harinesan, Margherita Milone, Naveen K Paramasivan, Pallab Sarker, Andrew M Knight, Carley Karsten, Surendra Dasari, Teerin Liewluck, William J Litchy, Sean J Pittock, John R Mills, Divyanshu Dubey
{"title":"High-Throughput Immunoassays for Cavin-4 IgG: A Diagnostic Tool for Immune-Mediated Rippling Muscle Disease.","authors":"Reghann G LaFrance-Corey, Haidara Kherbek, Nimalan Harinesan, Margherita Milone, Naveen K Paramasivan, Pallab Sarker, Andrew M Knight, Carley Karsten, Surendra Dasari, Teerin Liewluck, William J Litchy, Sean J Pittock, John R Mills, Divyanshu Dubey","doi":"10.1002/acn3.70012","DOIUrl":"https://doi.org/10.1002/acn3.70012","url":null,"abstract":"<p><p>Cavin-4 was identified as a potential autoantigen for immune-mediated rippling muscle disease (iRMD). To validate this, we developed and tested various immunoassays, including a cell-based assay (CBA), cavin-4 recombinant protein ELISA, and multi-peptide ELISA. Among 19 iRMD patients, all exhibited muscle rippling, and 13 had percussion-induced mounding. All immunoassays demonstrated clinical and analytical specificities greater than 95%. The protein ELISA had the highest sensitivity (94.7%) and specificity (99.9%), outperforming CBA (sensitivity 89.5%, specificity 99.6%) and the multi-peptide ELISA (sensitivity 79.0%, specificity 97.2%). Our results suggest that the cavin-4 protein ELISA is a promising tool for high-throughput clinical testing in iRMD.</p>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":" ","pages":""},"PeriodicalIF":4.4,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143432120","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}
引用次数: 0
Amygdala Neurodegeneration: A Key Driver of Visual Dysfunction in Parkinson's Disease.
IF 4.4 2区 医学
Annals of Clinical and Translational Neurology Pub Date : 2025-02-17 DOI: 10.1002/acn3.70007
Asier Erramuzpe, Ane Murueta-Goyena, Antonio Jimenez-Marin, Marian Acera, Sara Teijeira-Portas, Rocío Del Pino, Tamara Fernández-Valle, Ibai Diez, Unai Sainz-Lugarezaresti, Naroa Ibarretxe-Bilbao, Unai Ayala, Maitane Barrenechea, Alberto Cabrera-Zubizarreta, Jesús Cortés, Juan Carlos Gómez-Esteban, Iñigo Gabilondo
{"title":"Amygdala Neurodegeneration: A Key Driver of Visual Dysfunction in Parkinson's Disease.","authors":"Asier Erramuzpe, Ane Murueta-Goyena, Antonio Jimenez-Marin, Marian Acera, Sara Teijeira-Portas, Rocío Del Pino, Tamara Fernández-Valle, Ibai Diez, Unai Sainz-Lugarezaresti, Naroa Ibarretxe-Bilbao, Unai Ayala, Maitane Barrenechea, Alberto Cabrera-Zubizarreta, Jesús Cortés, Juan Carlos Gómez-Esteban, Iñigo Gabilondo","doi":"10.1002/acn3.70007","DOIUrl":"https://doi.org/10.1002/acn3.70007","url":null,"abstract":"<p><strong>Objective: </strong>Visual disability in Parkinson's disease (PD) is not fully explained by retinal neurodegeneration. We aimed to delineate the brain substrate of visual dysfunction in PD and its association with retinal thickness.</p><p><strong>Methods: </strong>Forty-two PD patients and 29 controls underwent 3-Tesla MRI, retinal spectral-domain optical coherence tomography, and visual testing across four domains. Voxel-level associations between gray matter volume and visual outcomes were used to define a visual impairment region (visualROI). Functional connectivity of the visualROI with brain networks was analyzed. Covariance analysis of brain regions associated with retinal thinning (retinalROI) was conducted using hierarchical clustering to develop a model of retinal and brain neurodegeneration linked to disease progression.</p><p><strong>Results: </strong>The amygdala was the primary component of the visualROI, comprising 32.3% and 14.6% of its left and right volumes. Functional connectivity analysis revealed significant disruptions between the visualROI and medial/lateral visual networks in PD. Covariance analysis identified three clusters within retinalROI: (1) the thalamic nucleus, (2) the amygdala and lateral/occipital visual regions, and (3) frontal regions, including the anterior cingulate cortex and frontal attention networks. Hierarchical clustering suggested a two-phase progression: early amygdala damage (Braak 1-3) disrupting visual network connections, followed by retinal and frontal atrophy (Braak 4-5) exacerbating visual dysfunction.</p><p><strong>Interpretation: </strong>Our findings support a novel, amygdala-centric two-phase model of visual dysfunction in PD. Early amygdala degeneration disrupts visual pathways, while advanced-stage disconnection between the amygdala and frontal regions and retinal neurodegeneration contributes to further visual disability.</p>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":" ","pages":""},"PeriodicalIF":4.4,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143432114","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}
引用次数: 0
Ethnoracial disparities in gray matter atrophy are mediated by structural disconnectivity in multiple sclerosis
IF 4.4 2区 医学
Annals of Clinical and Translational Neurology Pub Date : 2025-02-17 DOI: 10.1002/acn3.52311
Ahmed Bayoumi, Joseph A. Thomas, Breanna R. Alonzo, Juan Jimenez, Christopher M. Orlando, Carlos A. Pérez, Khader M. Hasan, Jerry S. Wolinsky, John A. Lincoln
{"title":"Ethnoracial disparities in gray matter atrophy are mediated by structural disconnectivity in multiple sclerosis","authors":"Ahmed Bayoumi,&nbsp;Joseph A. Thomas,&nbsp;Breanna R. Alonzo,&nbsp;Juan Jimenez,&nbsp;Christopher M. Orlando,&nbsp;Carlos A. Pérez,&nbsp;Khader M. Hasan,&nbsp;Jerry S. Wolinsky,&nbsp;John A. Lincoln","doi":"10.1002/acn3.52311","DOIUrl":"10.1002/acn3.52311","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>To investigate ethnoracial disparities in gray matter (GM) atrophy, the contribution of white matter lesions and consequent structural disconnectivity among patients with multiple sclerosis (MS).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This retrospective study included 297 patients with MS (pwMS), 98 Hispanic/Latinx (H-MS), 82 non-Hispanic Black (B-MS), and 117 non-Hispanic White (W-MS). GM atrophy was assessed using univariate, voxel-based morphometry, and multivariate techniques, source-based morphometry. Structural disconnectivity secondary to white matter lesions was evaluated using the network modification tool. Mediation analyses explored relationships between ethnoracial groups, white matter lesions, structural disconnectivity, and gray matter atrophy.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>B-MS and H-MS generally exhibited greater gray matter atrophy compared to W-MS, particularly in temporal, parahippocampal, precuneus, and cuneus GM. Structural disconnectivity differences were most prominent in the hippocampal, cingulate, precuneus, and deep gray matter regions. Mediation analyses revealed that lesion load significantly mediated group differences in global GM atrophy (percent mediated = 52.4%), while structural disconnectivity mediated some differences in specific gray matter components, notably in deep gray matter, insular, and anterior cingulate regions.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>Significant ethnoracial disparities exist in GM atrophy and its patterns among diverse MS patients, partially mediated by white matter lesions and consequent structural disconnectivity. These findings underscore the importance of considering ethnoracial factors in MS research and clinical practice, potentially informing personalized treatment strategies and emphasizing the need for diverse representation in clinical trials.</p>\u0000 </section>\u0000 </div>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":"12 3","pages":"615-630"},"PeriodicalIF":4.4,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/acn3.52311","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143432118","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}
引用次数: 0
Associations of Cerebrospinal Fluid Orexin-A, Alzheimer Disease Biomarkers, and Cognitive Performance.
IF 4.4 2区 医学
Annals of Clinical and Translational Neurology Pub Date : 2025-02-17 DOI: 10.1002/acn3.70009
Ruijin Lu, Krish Shah, Cristina D Toedebusch, Ashley Hess, Rachel Richardson, Emmanuel Mignot, Suzanne E Schindler, Tammie L S Benzinger, Shaney Flores, Jason Hassenstab, Chengjie Xiong, John C Morris, David M Holtzman, Brendan P Lucey
{"title":"Associations of Cerebrospinal Fluid Orexin-A, Alzheimer Disease Biomarkers, and Cognitive Performance.","authors":"Ruijin Lu, Krish Shah, Cristina D Toedebusch, Ashley Hess, Rachel Richardson, Emmanuel Mignot, Suzanne E Schindler, Tammie L S Benzinger, Shaney Flores, Jason Hassenstab, Chengjie Xiong, John C Morris, David M Holtzman, Brendan P Lucey","doi":"10.1002/acn3.70009","DOIUrl":"10.1002/acn3.70009","url":null,"abstract":"<p><strong>Objective: </strong>Cerebrospinal fluid (CSF) orexin-A has been suggested to be a biomarker of Alzheimer disease (AD). In both cognitively unimpaired healthy older adults and individuals with symptomatic AD, CSF orexin-A is positively associated with CSF Aβ42, p-tau181, and total tau (t-tau) concentrations. However, a recent systematic review and meta-analysis did not support differences in orexin-A between AD and controls. In this study, we tested the association between CSF orexin-A concentrations, AD biomarkers, and cognitive performance in older adults with and without symptomatic AD.</p><p><strong>Methods: </strong>Two hundred and seventy community-dwelling older adults underwent standardized cognitive assessments, sleep monitoring with a single-channel electroencephalography test, one night of home sleep apnea testing, biofluid and imaging AD biomarker measurement within 1 year of sleep monitoring, and APOE genotyping. Plasma and CSF AD biomarkers were measured by immunoassay or mass spectrometry. CSF orexin-A was measured by radioimmunoassay.</p><p><strong>Results: </strong>CSF orexin-A levels did not differ by amyloid positivity, cognitive status, or AD stage. However, CSF AD biomarkers (Aβ40, Aβ42, and t-tau) were positively associated with CSF orexin-A levels even after correction for multiple comparisons. CSF orexin-A was not associated with any measure of cognitive performance.</p><p><strong>Interpretation: </strong>This study showed that CSF orexin-A is associated with multiple CSF AD biomarkers, but not with AD pathology or cognitive performance. We hypothesize that this is due to similar mechanisms of production/release of these proteins with sleep-wake activity. Future studies measuring other forms of orexin peptides, such as orexin-B, may provide evidence for orexin as a marker for AD.</p>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":" ","pages":""},"PeriodicalIF":4.4,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143432116","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}
引用次数: 0
Twelve-month change in quantitative MRI calf muscle fat fraction in CMT1A predicts clinical change over 4 years.
IF 4.4 2区 医学
Annals of Clinical and Translational Neurology Pub Date : 2025-02-17 DOI: 10.1002/acn3.52314
Matthew R B Evans, Hamza A Salhab, Christopher D J Sinclair, Sachit Shah, Michael G Hanna, Tarek A Yousry, John S Thornton, Jasper M Morrow, Mary M Reilly
{"title":"Twelve-month change in quantitative MRI calf muscle fat fraction in CMT1A predicts clinical change over 4 years.","authors":"Matthew R B Evans, Hamza A Salhab, Christopher D J Sinclair, Sachit Shah, Michael G Hanna, Tarek A Yousry, John S Thornton, Jasper M Morrow, Mary M Reilly","doi":"10.1002/acn3.52314","DOIUrl":"https://doi.org/10.1002/acn3.52314","url":null,"abstract":"<p><strong>Objective: </strong>We measured clinical and quantitative MRI outcome measures in CMT1A to assess long-term responsiveness, establish longitudinal validity and assess MRI as a bridging biomarker.</p><p><strong>Methods: </strong>Twenty patients with CMT1A and 20 matched controls underwent MRI, myometry and clinical assessments up to four times over mean 4-year follow-up. Bilateral calf muscle MRI included T1-weighted sequences with Mercuri grading and three-point Dixon quantitative fat fraction assessment. Patients were grouped on baseline calf muscle fat fraction: normal <5%, intermediate 5%-70% and end stage >70%.</p><p><strong>Results: </strong>Controls showed no significant change on MRI. CMT1A patients' calf muscle fat percentage progressed across all follow-up visits: mean absolute change was +1.3 ± 1.2% (mean ± SD) at 12 months, +2.3 ± 2.2% at 27 months and 2.8 ± 2.9% at 49 months. Mercuri grades increased by 0.07 ± 0.11 per year. Responsiveness of individual muscle fat was less than for both calves combined. Patients with intermediate baseline calf muscle fat showed greater progression of 3.7 ± 2.3% at 27 months. There was strong correlation between rate of progression of calf muscle fat and CMT Examination Score (ρ = 0.71, P = 0.005). Calf muscle fat progression at 12 months correlated significantly with annualised CMT Examination Score progression at final visit (ρ = 0.65, P = 0.01).</p><p><strong>Interpretation: </strong>We demonstrated a consistent progression of calf muscle MRI fat over 4 years, significant longitudinal correlation between CMT Examination Score and calf muscle fat, and potential as a bridging biomarker by 1 year change in fat correlating with long-term clinical progression. Increasing study duration minimally increased responsiveness; however, selecting patients with intermediate fat fraction significantly increased responsiveness.</p>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":" ","pages":""},"PeriodicalIF":4.4,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143432061","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}
引用次数: 0
Liraglutide for idiopathic intracranial hypertension: a real-world propensity score-matched study.
IF 4.4 2区 医学
Annals of Clinical and Translational Neurology Pub Date : 2025-02-13 DOI: 10.1002/acn3.52300
Ahmed Y Azzam, Muhammed Amir Essibayi, Dhrumil Vaishnav, Mohammed A Azab, Mahmoud M Morsy, Osman Elamin, Adam Elswedy, Oday Atallah, Hana J Abukhadijah, Adam A Dmytriw, Amanda Baker, Deepak Khatri, Neil Haranhalli, David J Altschul
{"title":"Liraglutide for idiopathic intracranial hypertension: a real-world propensity score-matched study.","authors":"Ahmed Y Azzam, Muhammed Amir Essibayi, Dhrumil Vaishnav, Mohammed A Azab, Mahmoud M Morsy, Osman Elamin, Adam Elswedy, Oday Atallah, Hana J Abukhadijah, Adam A Dmytriw, Amanda Baker, Deepak Khatri, Neil Haranhalli, David J Altschul","doi":"10.1002/acn3.52300","DOIUrl":"https://doi.org/10.1002/acn3.52300","url":null,"abstract":"<p><strong>Objective: </strong>Idiopathic intracranial hypertension (IIH) is a neurological disorder predominantly affecting young women with obesity, characterized by elevated intracranial pressure. While current treatments include weight loss counseling, medical therapies, and surgical interventions, their limitations necessitate exploring novel therapeutic approaches. We investigated the efficacy of liraglutide as an adjunctive therapy in IIH management.</p><p><strong>Methods: </strong>We conducted a retrospective cohort study, analyzing adult patients with IIH. Through propensity score matching, we compared patients receiving liraglutide alongside standard therapy (n = 204) with those receiving standard therapy alone (n = 204). Primary outcomes included papilledema, headache manifestations, and visual disturbances, assessed at 3, 6, 12, and 24 months posttreatment initiation.</p><p><strong>Results: </strong>Our matched cohorts were predominantly female (95.1% vs. 97.1%) with comparable mean ages (37.6 vs. 37.3 years). Liraglutide treatment demonstrated significant reduction in papilledema risk at 3 months (RR 0.333, 95% CI 0.167-0.664, p = 0.001), with sustained benefits throughout 24 months (RR 0.524, 95% CI 0.325-0.845, p = 0.006). While improvements were observed in visual disturbances, headache symptoms, and refractory IIH cases, these did not reach statistical significance.</p><p><strong>Interpretation: </strong>Our findings suggest that liraglutide as an adjunctive therapy significantly improves papilledema outcomes in IIH patients, with the greatest effect observed at 3 months and sustained benefits over 2 years. This study provides promising evidence for liraglutide's role in IIH management, particularly in addressing papilledema.</p>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":" ","pages":""},"PeriodicalIF":4.4,"publicationDate":"2025-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143412577","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}
引用次数: 0
Case of a 96-year-old woman with tilt of the subjective vertical axis.
IF 4.4 2区 医学
Annals of Clinical and Translational Neurology Pub Date : 2025-02-11 DOI: 10.1002/acn3.70003
Markus A Hobert, Patrik Theodor Nerdal, Klaus Jahn, Johannes Hensler, Walter Maetzler
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