Annals of Clinical and Translational Neurology最新文献

{"title":"A 14-Year Study of Serum Glial Fibrillary Acidic Protein and Total Tau in Premanifest Huntington's","authors":"Natalia E. Owen,&nbsp;Zanna J. Voysey,&nbsp;Jonathan A. Holbrook,&nbsp;Maura Malpetti,&nbsp;Clara Le Draoulec,&nbsp;Lennart R. B. Spindler,&nbsp;Anna O. G. Goodman,&nbsp;Alpar S. Lazar,&nbsp;Roger A. Barker","doi":"10.1002/acn3.70057","DOIUrl":"10.1002/acn3.70057","url":null,"abstract":"<p>There is a pressing need for blood biomarkers that can identify Huntington's disease (HD) gene carriers' proximity to manifest disease. We previously examined serial serum neurofilament light (NfL) concentrations in 21 premanifest HD gene carriers and 14 controls over 14 years, finding that NfL demonstrates high prognostic value and distinct longitudinal dynamics in premanifest/transitional HD. Here, we report the corresponding results for serum glial fibrillary acidic protein and total tau, providing the first longitudinal and head-to-head study of these biomarkers in HD. Our findings do not support the utility of these analytes as prognostic biomarkers in premanifest and transitional HD.</p>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":"12 6","pages":"1296-1301"},"PeriodicalIF":4.4,"publicationDate":"2025-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/acn3.70057","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143953408","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":"Threshold Values of Sleep Spindles Features in Healthy Adults Using Scalp-EEG and Associations With Sleep Parameters","authors":"Julien Coelho,&nbsp;Heloïse Degros,&nbsp;Jean-Arthur Micoulaud-Franchi,&nbsp;Patricia Sagaspe,&nbsp;Emmanuel d'Incau,&nbsp;Paul Galvez,&nbsp;Christian Berthomier,&nbsp;Pierre Philip,&nbsp;Jacques Taillard","doi":"10.1002/acn3.70055","DOIUrl":"10.1002/acn3.70055","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Sleep spindles are an electrophysiological fingerprint of the sleeping human brain. They can be described in terms of duration, frequency, amplitude, and density, and vary widely according to age and sex. Spindles play a role in sleep and wake functions and are altered in several neurological and psychiatric disorders. This study established the first threshold values for sleep spindles in healthy adults using scalp-EEG and explored their associations with other sleep parameters.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This observational prospective study was conducted with 80 healthy participants stratified by age and sex (40.9 years, range 19–74, 50% females). All participants underwent in-laboratory polysomnography. Sleep spindles during N2 were analyzed using an automated procedure and categorized as fast (&gt; 13 Hz) or slow (≤ 13 Hz).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>For fast spindles, the threshold values were duration (0.80–1.11 s), frequency (13.4–14.3 Hz), amplitude (5.2–15.2 μV), and density (1.0–5.8 spindles/min). For slow spindles, the values were duration (0.79–1.17 s), frequency (12.3–12.9 Hz), amplitude (4.1–13.2 μV), and density (0.03–3.15 spindles/min). From age 40 onwards, the density, amplitude, and duration of both types of spindles decreased; the amplitudes of both types of spindles were higher in females. Higher amplitude in fast spindles was associated with increased excessive daytime sleepiness and an increased proportion of slow-wave sleep.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>This study provides the first threshold values for sleep spindle characteristics in healthy adults. The findings emphasize the importance of investigating spindles to develop innovative biomarkers for neurological and psychiatric disorders and to gain deeper insights into the functioning of the sleeping brain.</p>\u0000 </section>\u0000 </div>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":"12 6","pages":"1276-1291"},"PeriodicalIF":4.4,"publicationDate":"2025-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/acn3.70055","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143953494","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":"Cortical Excitability Before and After Long-Term Perampanel Treatment for Epilepsy","authors":"Robert M. Helling,&nbsp;Johannes P. van Dijk,&nbsp;Prisca R. Bauer,&nbsp;Roland D. Thijs,&nbsp;Josemir W. Sander,&nbsp;Machiel Zwarts,&nbsp;Gerhard H. Visser","doi":"10.1002/acn3.70044","DOIUrl":"10.1002/acn3.70044","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Antiseizure medications (ASMs), which may influence cortical excitability, are the mainstay of epilepsy treatment. Transcranial magnetic stimulation (TMS) helps evaluate cortical excitability. We assessed changes in TMS responses using serial TMS measurements in people treated with an adjunctive noncompetitive AMPA-receptor antagonist.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We included adults with refractory, active epilepsy (≥ 1 seizure/month), advised to start adjunctive treatment with the noncompetitive AMPA-receptor antagonist perampanel as outpatients. After informed consent, we performed TMS measurement at three points: baseline before starting perampanel, at around 2 months after starting (4 mg/day), and at a final/effective dose around 6 months. Dependent on seizure reduction (&gt; 50%), participants were dichotomized into responders (Rs) and nonresponders (NRs). We compared changes in motor cortex excitability through the rMT using a linear mixed-effects model. We evaluated TMS-evoked potentials (TEPs) to single pulse and paired pulse using within-subject Monte Carlo–based permutation analysis.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We included 18 adults, of whom 17 (6 R, 11 NR, 1 lost to follow-up) had baseline and second-month measurements, and nine (4 R, 5 NR) had all three. In responders, motor cortex excitability, quantified by rMT, significantly increased with increasing dose. Conversely, no significant changes were seen in the NR subgroup. TEPs for the single pulse and paired pulse showed no significant clusters for any peaks between measurement and group comparisons.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>The TEPs showed no significant changes between measurements and/or groups. Motor cortex excitability quantified by rMT is a potential biomarker to track or predict treatment outcomes in people starting adjunctive perampanel for epilepsy.</p>\u0000 </section>\u0000 </div>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":"12 6","pages":"1256-1264"},"PeriodicalIF":4.4,"publicationDate":"2025-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/acn3.70044","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144053230","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":"Correspondence of MRI and nTMS With EDSS in Multiple Sclerosis: Longitudinal Follow-Up Study","authors":"Antonia Bralić,&nbsp;Sanda Pavelin,&nbsp;Nikolina Pleić,&nbsp;Joško Šoda,&nbsp;Krešimir Dolić,&nbsp;Anita Markotić,&nbsp;Ana Ćurković Katić,&nbsp;Angela Mastelić,&nbsp;Nikolina Režić Mužinić,&nbsp;Jasna Duranović,&nbsp;Zlatko Kljajić,&nbsp;Ivona Stipica Safić,&nbsp;Zoran Đogaš,&nbsp;Maja Rogić Vidaković","doi":"10.1002/acn3.70041","DOIUrl":"10.1002/acn3.70041","url":null,"abstract":"&lt;div&gt;\u0000 \u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Objectives&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;Considering the characteristics of multiple sclerosis (MS) disease and its impact on motor disability, this study aims to assess the functional integrity of the corticospinal tract by examining motor evoked potentials (MEPs), Expanded Disability Status Scale (EDSS) scores, magnetic resonance imaging (MRI) lesion counts, and psychological and physical status reported by patients with relapsing–remitting MS (RRMS).&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Methods&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;In 23 RRMS subjects (17 in the follow-up), the corticospinal tract for upper and lower extremity muscles was longitudinally studied over 2 years using navigated transcranial magnetic stimulation (nTMS) and MEP scoring. MRI parameters included lesion detection by applying McDonald's criteria and additional lesion detection of the corticospinal tract. EDSS scoring included evaluation of the EDSS general score, EDSS functional pyramidal score, and EDSS functional pyramidal score for each extremity. Longitudinal analyses of nTMS (MEP), EDSS, and MRI parameters were conducted using linear mixed models with time, sex, age, and disease duration as fixed effects and individual-specific random intercepts. The correspondence of MRI and nTMS scoring with the EDSS pyramidal scoring was tested using McNemar's or Fisher's exact test.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Results&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;RRMS patients with altered MEP latency had significantly higher general EDSS scores (&lt;i&gt;β&lt;/i&gt; = −2.06, &lt;i&gt;p&lt;/i&gt; = 0.006) and overall pyramid EDSS scores (&lt;i&gt;β&lt;/i&gt; = −1.96, &lt;i&gt;p&lt;/i&gt; = 0.002) compared to those with non-altered MEP latency. This difference was also observed in lower extremity pyramid EDSS scores, with higher scores in the right (&lt;i&gt;β&lt;/i&gt; = −1.70, &lt;i&gt;p&lt;/i&gt; = 0.001) and left leg (&lt;i&gt;β&lt;/i&gt; = −1.50, &lt;i&gt;p&lt;/i&gt; = 0.032) in the altered MEP latency group. RRMS patients with altered MEP latency had significantly more lesions in the corpus callosum (&lt;i&gt;β&lt;/i&gt; = 2.38, &lt;i&gt;p&lt;/i&gt; = 0.03) compared to subjects with non-altered MEP latency findings. The correspondence of MRI and nTMS (MEP latency) with EDSS scoring was confirmed.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Interpretation&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;RRMS subjects with altered MEP latency findings (prolonged MEP latency or absent MEP response) compared to subjects with non-altered MEP latency findings, had higher EDSS scores in lower extremity muscles as well as a higher number of lesions in the corpus callosum. This is the first longitudinal nTMS study to perform four-limb cortical mapping of corticospinal tract integrity in RRMS. The study opens perspectives for the","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":"12 6","pages":"1240-1255"},"PeriodicalIF":4.4,"publicationDate":"2025-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/acn3.70041","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143953411","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":"Cerebral Amyloid Angiopathy Is Associated With Higher R2 Relaxation Rate: An MRI and Pathology Study","authors":"Md Tahmid Yasar,&nbsp;Arnold M. Evia,&nbsp;Mahir Tazwar,&nbsp;Sue E. Leurgans,&nbsp;David A. Bennett,&nbsp;Julie A. Schneider,&nbsp;Konstantinos Arfanakis","doi":"10.1002/acn3.70037","DOIUrl":"10.1002/acn3.70037","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Cerebral amyloid angiopathy (CAA) involves β-amyloid deposition in the walls of cortical and leptomeningeal small vessels. Transverse relaxation rate (R₂) is a major source of contrast in MRI. This study tested the hypothesis that CAA is associated with R₂, extracted the spatial pattern of CAA-related R₂ abnormalities, and evaluated R₂ at different CAA severity levels in a large number of community-based older adults.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Cerebral hemispheres from 804 older adults who came to autopsy were included. All hemispheres underwent ex vivo MRI and detailed neuropathologic examination. R₂ maps were generated from ex vivo MRI data. Voxel-wise and region-based regression analyses were conducted to investigate the association of R₂ with CAA, controlling for other neuropathologies and demographics. R₂ values at different CAA severity levels were also investigated.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>CAA severity was associated with a higher transverse relaxation rate R₂ in cortical and juxtacortical frontal and medial temporal lobe regions, and in deep brain structures, independently of other neuropathologies and demographics. R₂ abnormalities were significant in severe CAA, but were limited in terms of spatial extent and magnitude in moderate CAA, and were not detectable in mild CAA.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>This is to our knowledge the first investigation of the link between CAA and R₂, one of the major contrast mechanisms in MRI. R₂ is sensitive to CAA-related brain abnormalities, primarily in moderate and severe stages of the disease. In vivo detection of CAA is an important challenge, and the present work contributes new knowledge that may aid toward this goal.</p>\u0000 </section>\u0000 </div>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":"12 6","pages":"1214-1224"},"PeriodicalIF":4.4,"publicationDate":"2025-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/acn3.70037","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143952501","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":"Management and Outcomes in Confirmed or Suspected Acute Symptomatic Seizure: Role of Structured Outpatient Care","authors":"Vineet Punia,&nbsp;MarieElena Byrnes,&nbsp;Nicolas R. Thompson,&nbsp;Neishay Ayub,&nbsp;Clio Rubinos,&nbsp;Sahar Zafar,&nbsp;Adithya Sivaraju,&nbsp;Zhong Ying,&nbsp;Jessica R. Fesler,&nbsp;Stephen Hantus,&nbsp;Post-Acute Symptomatic Seizure Investigation and Outcomes Network (PASSION) investigators","doi":"10.1002/acn3.70039","DOIUrl":"10.1002/acn3.70039","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Post-discharge management and outcomes of acute symptomatic seizures (ASyS) remain underexplored. We analyzed post-discharge ASM management and outcomes in ASyS patients undergoing continuous EEG (cEEG), including the role of outpatient care through a post-acute symptomatic seizure (PASS) clinic.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We performed a single-center, retrospective study of adults without epilepsy discharged on ASMs due to witnessed or suspected ASyS in 2019. A cause-specific cumulative distribution function was used to estimate outcome probabilities, and cause-specific Cox proportional hazards models examined factors influencing the first ASM discontinuation, subsequent unprovoked seizure, and death.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The study evaluated 307 patients [mean 61.6 years; 51.8% females], 60.2% with confirmed ASyS [144 (46.9%) clinical ASyS; 41 (13.4%) with electrographic ASyS only]. During median 14-month follow-up, 31.9% discontinued ASM, 18.6% experienced unprovoked seizure, and 38.4% died. Based on cumulative incidence function, ASM discontinuation, unprovoked seizure, and death at 12 months occurred in 26.2%, 14.1%, and 29.3% of patients, respectively. 59.6% of alive patients without unprovoked seizures were taking ASMs. Clinical ASyS (HR 0.48; 95% CI 0.31, 0.76), electrographic ASyS only (HR 0.37; 0.17, 0.82), and acute epileptiform abnormalities (HR 0.48; 0.27, 0.84) were associated with lower ASM discontinuation. Unprovoked seizures were associated with epileptiform outpatient EEG (HR 5.40; 2.62, 11.12). PASS clinic patients discontinued ASMs 74% faster (HR 1.74; 1.12, 2.71), with 88% lower risk of unprovoked seizures (HR 0.12; 0.04, 0.34).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>Outpatient ASM overuse in ASyS patients is common. Outpatient epileptiform abnormalities may predict unprovoked seizures. Structured outpatient care, such as PASS clinics, facilitates faster yet safer ASM discontinuation.</p>\u0000 </section>\u0000 </div>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":"12 6","pages":"1225-1239"},"PeriodicalIF":4.4,"publicationDate":"2025-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/acn3.70039","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143954684","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 burden of intracranial atherosclerosis on cerebral small vessel disease: A community cohort study","authors":"Joseph Amihere Ackah,&nbsp;Heng Du,&nbsp;Wenjie Yang,&nbsp;Huixing Zeng,&nbsp;Jason Tsz Lok Chan,&nbsp;Michael Lung Cheung Lo,&nbsp;Xiangyan Chen","doi":"10.1002/acn3.70005","DOIUrl":"10.1002/acn3.70005","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Exploring the prevalence and association between intracranial atherosclerosis (ICAS) and cerebral small vessel diseases (CSVD), this study delved beyond the current scope, utilising high-resolution vessel wall MRI (HRVW-MRI) to investigate how subtle changes in intracranial atherosclerotic features influence the various burdens of CSVD.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Stroke-free Chinese adult participants were recruited from our ongoing community-based MRI cohort. HRVW-MRI technique with a T1-weighted 3D SPACE sequence was used to assess atherosclerotic plaque features: plaque load, degree of stenosis, remodelling index, eccentricity. A multi-sequence MRI assessment elucidated CSVD markers, including white matter hyperintensities, lacune infarcts, microbleeds and enlarged perivascular spaces. Statistical analyses, including sensitivity and specificity tests, chi-square, correlation and regression models were fitted to explore the association between ICAS and CSVD.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Of the 225 participants (mean age 64.90 ± 6.87 years) included in the study, 101 (45%) were males. Thirty-nine participants (17.3%) presented with ICAS (8 progressive plaques and 31 were pre-atherosclerotic). One hundred and six (47.1%) participants recorded at least one clinically significant marker of CSVD. The subtle changes (increment or decrement) in atherosclerotic features such as positive remodelling, plaque load, eccentricity, degree of stenosis and the morphology (ICAS severity) may parallelly influence the distinct markers and overall CSVD burden.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>This study demonstrates that the association between ICAS and CVSD extends beyond mere co-existence due to shared risk factors, suggesting the presence of a dose–effect relationship between ICAS and CVSD. HRVW-MRI could elucidate diagnostic metrics and characteristic features that reveal how ICAS impacts distinct CSVD burdens, thereby enhancing clinical decisions.</p>\u0000 </section>\u0000 </div>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":"12 6","pages":"1187-1200"},"PeriodicalIF":4.4,"publicationDate":"2025-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/acn3.70005","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143953741","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":"Patients' Global Impression of Change (PGIC) Score Compared to Monthly Migraine Days to Evaluate Treatment Persistence With Anti-CGRP Monoclonal Antibodies","authors":"Marina Romozzi,&nbsp;Catello Vollono,&nbsp;Paolo Calabresi,&nbsp;Francesco De Cesaris,&nbsp;Luigi Francesco Iannone","doi":"10.1002/acn3.70053","DOIUrl":"10.1002/acn3.70053","url":null,"abstract":"<p>This study assessed whether continued treatment with anti-CGRP monoclonal antibodies (mAbs) is driven more by reductions in monthly migraine days (MMDs) or patients' global impression of change (PGIC), a patient-reported outcome. Among 169 patients treated with anti-CGRP mAbs, 21.3% discontinued due to ineffectiveness. PGIC responders (≥ 5) at month 12 were 69.8%, whereas MMD responders (≥ 50% reduction) were 59.2%. Both were significantly associated with discontinuation (PGIC: <i>χ</i>² = 33.474, <i>φ</i> = 0.445; MMD: <i>χ</i>² = 29.884, <i>φ</i> = 0.421; <i>p</i> &lt; 0.0001). PGIC showed a stronger correlation with discontinuation (<i>r</i>_pb = 0.541) than MMD reduction (<i>r</i>_pb = 0.470). These findings highlight PGIC as strongly associated with treatment response, supporting the need for PROMs in evaluating migraine treatment effectiveness.</p>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":"12 6","pages":"1292-1295"},"PeriodicalIF":4.4,"publicationDate":"2025-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/acn3.70053","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143951590","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":"Spinal Cord Abnormalities in Early Pediatric Multiple Sclerosis.","authors":"Monica Margoni, Paola Valsasina, Paolo Preziosa, Martina Rubin, Mor Gueye, Lucia Moiola, Maria Assunta Rocca, Massimo Filippi","doi":"10.1002/acn3.70046","DOIUrl":"https://doi.org/10.1002/acn3.70046","url":null,"abstract":"<p><p>Spinal cord lesions and atrophy in the cervical region are common in adult multiple sclerosis (MS) and correlate with disability. Whether similar abnormalities occur in pediatric MS patients is largely unknown. Clinical and MRI evaluations were performed in 38 pediatric MS patients and 13 healthy controls (HC). No significant differences in upper cervical cord area were found between MS patients and HC or between patients with and without lesions. Patients with lesions showed increased cord volume, co-localizing with lesions, likely reflecting inflammation. Our results suggest that upper cord atrophy is not a prominent feature in early pediatric MS, underscoring the inflammation-driven characteristic of these patients.</p>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":" ","pages":""},"PeriodicalIF":4.4,"publicationDate":"2025-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143953178","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":"A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration.","authors":"Sara Rubio-Guerra, Sara Bernal, David Almenta, Josefina Pérez-Blanco, Valle Camacho, Isabel Sala, Mª Belén Sánchez-Saudinós, Jesús García Castro, Judit Selma-González, Miguel Ángel Santos-Santos, Álvaro Carbayo, Janina Turon-Sans, Ricard Rojas-Garcia, Daniel Alcolea, Juan Fortea, Alberto Lleó, Oriol Dols-Icardo, Ignacio Illán-Gala","doi":"10.1002/acn3.70023","DOIUrl":"https://doi.org/10.1002/acn3.70023","url":null,"abstract":"<p><p>C-truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice-site variant (c.35-1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who presented at ages 62 and 66 years with a slowly progressive behavioral variant of frontotemporal dementia and a syndrome mimicking dementia with Lewy bodies, respectively. Functional and in silico analyses supported the pathogenicity of this variant. Our findings contribute new insights into the genetic landscape and clinical heterogeneity of FTLD.</p>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":" ","pages":""},"PeriodicalIF":4.4,"publicationDate":"2025-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143957350","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}