Annals of Clinical and Translational Neurology最新文献

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Letter on "Real-World Clinical Experience With Serum MOG and AQP4 Antibody Testing by Live Versus Fixed Cell-Based Assay". 关于“通过活细胞和固定细胞检测血清MOG和AQP4抗体的真实临床经验”的信。
IF 3.9 2区 医学
Annals of Clinical and Translational Neurology Pub Date : 2025-08-08 DOI: 10.1002/acn3.70168
Raveena Vij, Alexander J Jonokuchi, Ilya Kister
{"title":"Letter on \"Real-World Clinical Experience With Serum MOG and AQP4 Antibody Testing by Live Versus Fixed Cell-Based Assay\".","authors":"Raveena Vij, Alexander J Jonokuchi, Ilya Kister","doi":"10.1002/acn3.70168","DOIUrl":"https://doi.org/10.1002/acn3.70168","url":null,"abstract":"","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":" ","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144937179","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
Exploring if Longitudinal Changes on PET Imaging Can Serve as a Biomarker for Stiff Person Syndrome Spectrum Disorders. 探索PET成像的纵向变化是否可以作为僵硬者综合征谱系障碍的生物标志物。
IF 3.9 2区 医学
Annals of Clinical and Translational Neurology Pub Date : 2025-08-07 DOI: 10.1002/acn3.70145
Munther M Queisi, Samantha N Roman, Mohammad S Sadaghiani, Lilja B Solnes, Scott D Newsome
{"title":"Exploring if Longitudinal Changes on PET Imaging Can Serve as a Biomarker for Stiff Person Syndrome Spectrum Disorders.","authors":"Munther M Queisi, Samantha N Roman, Mohammad S Sadaghiani, Lilja B Solnes, Scott D Newsome","doi":"10.1002/acn3.70145","DOIUrl":"https://doi.org/10.1002/acn3.70145","url":null,"abstract":"<p><strong>Objective: </strong>To identify metabolic patterns in the brain and musculoskeletal system of stiff person syndrome spectrum disorders (SPSD) patients over time using PET imaging and evaluate the impact of immune therapy on metabolic activity as a surrogate for treatment response.</p><p><strong>Methods: </strong>This observational study at the Johns Hopkins SPS Center of Excellence included adults (≥ 18 years) diagnosed with classic SPS, partial SPS, SPS plus, or PERM, who were treated from 2009 to 2023. Participants underwent at least two whole-body and/or dedicated brain PET scans. Brain PET analysis utilized NeuroQ v3.8 software to generate standardized Z-scores for 47 distinct brain regions, assessed by expert nuclear medicine radiologists. Patient demographics, antibody types, immune therapies, and symptomatic treatments were assessed.</p><p><strong>Results: </strong>Eighteen patients met inclusion criteria (10 SPS plus, 6 classic SPS, 2 PERM), with a mean age of 50.7 (SD 8.5) years; 77.8% were female and 50.0% were Black/African American. Hypermetabolic activity and hypometabolism were both seen over time in the brain and the musculoskeletal system. Two patients starting immune therapy in between PET scans demonstrated improvement in brain but not body PET findings.</p><p><strong>Interpretation: </strong>The study findings indicate that PET imaging abnormalities are present over time and appear to have regional patterns that are common among phenotypes. Additionally, starting immune therapy between scans appears to correlate with stabilization or improvement in brain PET abnormalities, though this was less clear in body PET scans. PET scans have the potential to be an imaging biomarker in SPSD, but future studies are needed to validate this.</p>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":" ","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144797712","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
Translating a Preclinically Tested 15 Hz rTMS Protocol to Humans With Chronic Spinal Cord Injury: A Safety and Feasibility Study. 将临床前测试的15赫兹rTMS方案转化为慢性脊髓损伤患者:安全性和可行性研究。
IF 3.9 2区 医学
Annals of Clinical and Translational Neurology Pub Date : 2025-08-06 DOI: 10.1002/acn3.70154
Nabila Brihmat, Mehmed B Bayram, Morgan Paine, Janelle Carnahan, Jian Zhong, Xiaofei Guan, Guang H Yue, Soha Saleh, Gail F Forrest
{"title":"Translating a Preclinically Tested 15 Hz rTMS Protocol to Humans With Chronic Spinal Cord Injury: A Safety and Feasibility Study.","authors":"Nabila Brihmat, Mehmed B Bayram, Morgan Paine, Janelle Carnahan, Jian Zhong, Xiaofei Guan, Guang H Yue, Soha Saleh, Gail F Forrest","doi":"10.1002/acn3.70154","DOIUrl":"https://doi.org/10.1002/acn3.70154","url":null,"abstract":"<p><strong>Objectives: </strong>Repetitive transcranial magnetic stimulation (rTMS) is a non-invasive brain stimulation strategy with a demonstrated potential to reinforce the residual pathways after a spinal cord injury (SCI). A preclinically tested high-frequency (15 Hz) rTMS (15 Hz rTMS) protocol was shown to induce corticospinal tract axon regeneration growth and sprouting, resulting in improved voluntary motor control and performance. In a translational perspective, we aimed to investigate the safety and feasibility of the 15 Hz rTMS paradigm as an adjunct therapeutic intervention in individuals with chronic SCI.</p><p><strong>Method: </strong>We thus investigated the effects of a 15-day repeated protocol consisting of 15 Hz rTMS followed by task-specific hand motor training in 7 individuals with chronic cervical SCI. 15 Hz rTMS targeted the weaker wrist extensor muscle, based on participant- and day-specific resting motor threshold, motor responses, and maximum tolerability. Safety, feasibility, neurophysiological, and clinical functional outcomes were measured at different times of the therapeutic protocol.</p><p><strong>Results: </strong>The therapeutic stimulation protocol was delivered mostly as designed except with regard to stimulation intensity and duration and was overall tolerable without major serious effects. Preliminary neuroplastic and functional benefits revealed by corticospinal excitability and intracortical inhibition modulation and clinical improvements were noted and were still observable at follow-up times.</p><p><strong>Interpretation: </strong>This study confirms that an intervention combining 15 Hz rTMS and task-specific motor training is feasible, tolerable, and has the potential to induce neuroplastic changes and improve function in individuals with chronic cervical SCI. This feasibility study, in parallel with previous reports in able-bodied individuals, warrants further investigation of the adapted 15 Hz rTMS protocol in individuals at an earlier stage post-injury and to confirm efficacy in a larger and controlled study trial.</p>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":" ","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144793026","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
Long-Term Temporal Profile of Motor Recovery After Intracerebral Hemorrhage. 脑出血后运动恢复的长期时间特征。
IF 3.9 2区 医学
Annals of Clinical and Translational Neurology Pub Date : 2025-08-05 DOI: 10.1002/acn3.70124
Yan Zheng, Fu-Xin Lin, Ling-Yun Zhuo, Jian-Cai Chen, Xin Ge, Xiang-Lin Chen, Xue-Jiao Wang, Zhi-Gang Yao, You-Liang Tong, Bo Xie, Bai-Hai Guo, Zhao-Sheng Sun, Zhi-Hua Tian, Ping Qiu, Xin-Ru Lin, Qiu He, Shu-Na Huang, Ke Ma, Fang-Yu Wang, Huang-Cheng Shang-Guan, Wen-Hua Fang, Deng-Liang Wang, Ying Fu, Yuan-Xiang Lin, De-Zhi Kang
{"title":"Long-Term Temporal Profile of Motor Recovery After Intracerebral Hemorrhage.","authors":"Yan Zheng, Fu-Xin Lin, Ling-Yun Zhuo, Jian-Cai Chen, Xin Ge, Xiang-Lin Chen, Xue-Jiao Wang, Zhi-Gang Yao, You-Liang Tong, Bo Xie, Bai-Hai Guo, Zhao-Sheng Sun, Zhi-Hua Tian, Ping Qiu, Xin-Ru Lin, Qiu He, Shu-Na Huang, Ke Ma, Fang-Yu Wang, Huang-Cheng Shang-Guan, Wen-Hua Fang, Deng-Liang Wang, Ying Fu, Yuan-Xiang Lin, De-Zhi Kang","doi":"10.1002/acn3.70124","DOIUrl":"https://doi.org/10.1002/acn3.70124","url":null,"abstract":"<p><strong>Objective: </strong>Limited data is available to describe the temporal profile of long-term recovery over 1 year after the stroke in patients with spontaneous intracerebral hemorrhage (ICH).</p><p><strong>Methods: </strong>A registered multicentral cohort was conducted to consecutively include non-herniated supratentorial ICH patients from November 2013 to January 2023. Eligible patients received follow-ups at the time of 3 months, 6 months, 1 year, and each year after the enrollments until death or the study termination. The outcome of motor recovery was assessed with the dichotomy of independent standing ability. Analyses were performed to investigate the associated factors, recovery rates, and temporal profile.</p><p><strong>Results: </strong>Of 1624 eligible responses, 105 (6.5%) regained motor recovery beyond 1 year after the stroke. The motor recovery course decreased with time and continued until 44 months, with 1-year and long-term cumulative recovery rates of 71.3% (95% CI: 69.0%-73.5%) and 80.2% (95% CI: 78.0%-82.5%), respectively. Moreover, the onset age, ICH location, larger ICH, and peripheral hematomal edema (PHE), intraventricular extension, GCS score, and admission hospital tier were independent factors on the motor outcome (all p < 0.05). However, the older age (aHR = 0.97/year, 95% CI: 0.95-0.98, p < 0.001) was identified as the only hazard factor for future recovery in patients who were incapable of recovery within 1 year.</p><p><strong>Interpretation: </strong>The poststroke recovery was ongoing beyond 1 year until about 3 years after the onset, and those with delayed motor recovery accounted for about 10% of ultimately recovered patients.</p>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":" ","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144787898","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
Identification of Dementia With Lewy Bodies by Skin Biopsy in Recent-Onset Cognitive Impairment 新发认知障碍患者皮肤活检诊断路易体痴呆
IF 3.9 2区 医学
Annals of Clinical and Translational Neurology Pub Date : 2025-08-05 DOI: 10.1002/acn3.70133
Alessandro Furia, Alex Incensi, Cecilia Delprete, Giovanni Rizzo, Salvatore Bonvegna, Marco Piatti, Enrica Olivola, Francesco Ventruto, Veria Vacchiano, Enrico Fileccia, Roberto Cilia, Nicola Modugno, Rocco Liguori, Vincenzo Donadio
{"title":"Identification of Dementia With Lewy Bodies by Skin Biopsy in Recent-Onset Cognitive Impairment","authors":"Alessandro Furia,&nbsp;Alex Incensi,&nbsp;Cecilia Delprete,&nbsp;Giovanni Rizzo,&nbsp;Salvatore Bonvegna,&nbsp;Marco Piatti,&nbsp;Enrica Olivola,&nbsp;Francesco Ventruto,&nbsp;Veria Vacchiano,&nbsp;Enrico Fileccia,&nbsp;Roberto Cilia,&nbsp;Nicola Modugno,&nbsp;Rocco Liguori,&nbsp;Vincenzo Donadio","doi":"10.1002/acn3.70133","DOIUrl":"10.1002/acn3.70133","url":null,"abstract":"<p>Immunofluorescence for phosphorylated alpha-synuclein in skin biopsy samples is an emerging biomarker in synucleinopathies comprising Dementia with Lewy bodies. In this pilot study, 19 patients with recent-onset (≤ 18 months) cognitive impairment underwent skin biopsy at baseline, with follow-up clinical re-evaluation. Five patients fulfilled the Dementia with Lewy bodies diagnosis, all of them positive for skin phosphorylated alpha-synuclein. The remaining 14 patients were all negative. Skin tissue immunofluorescence may represent a promising technique in identifying synuclein pathology in recent-onset cognitive decline: larger cohorts are needed to confirm our preliminary data.</p>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":"12 9","pages":"1919-1925"},"PeriodicalIF":3.9,"publicationDate":"2025-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/acn3.70133","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144937092","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
The rs10191329 Risk Allele Is Associated With Pronounced Retinal Layer Atrophy in Multiple Sclerosis. rs10191329风险等位基因与多发性硬化症患者视网膜层明显萎缩有关
IF 3.9 2区 医学
Annals of Clinical and Translational Neurology Pub Date : 2025-08-04 DOI: 10.1002/acn3.70157
Gabriel Bsteh, Ruchi Tanavade, Nik Krajnc, Fabian Föttinger, Theresa König, Martin Krenn, Lukas Haider, Barbara Kornek, Fritz Leutmezer, Kerstin U Ludwig, Stefan Macher, Tobias Monschein, Markus Ponleitner, Paulus Rommer, Christiane Schmied, Karin Zebenholzer, Tobias Zrzavy, Gudrun Zulehner, Franziska Di Pauli, Axel Schmidt, Harald Hegen, Berthold Pemp, Thomas Berger
{"title":"The rs10191329 Risk Allele Is Associated With Pronounced Retinal Layer Atrophy in Multiple Sclerosis.","authors":"Gabriel Bsteh, Ruchi Tanavade, Nik Krajnc, Fabian Föttinger, Theresa König, Martin Krenn, Lukas Haider, Barbara Kornek, Fritz Leutmezer, Kerstin U Ludwig, Stefan Macher, Tobias Monschein, Markus Ponleitner, Paulus Rommer, Christiane Schmied, Karin Zebenholzer, Tobias Zrzavy, Gudrun Zulehner, Franziska Di Pauli, Axel Schmidt, Harald Hegen, Berthold Pemp, Thomas Berger","doi":"10.1002/acn3.70157","DOIUrl":"https://doi.org/10.1002/acn3.70157","url":null,"abstract":"<p><strong>Objective: </strong>To investigate whether the rs10191329 risk allele in the DYSF-ZNF638 locus, which is implicated in central nervous system resilience rather than immune-mediated pathology, is associated with retinal layer thinning, a biomarker of neuroaxonal damage in relapsing multiple sclerosis (RMS).</p><p><strong>Methods: </strong>From a prospective observational study, we included RMS patients with ≥ 2 optical coherence tomography (OCT) scans, excluding eyes with optic neuritis during the observation period. DNA samples were genotyped using the Illumina Infinium Global Screening Array-24 and variants imputed using the Haplotype Reference Consortium panel and Minimac4. Multivariable linear regression models were used to assess the association between rs10191329 risk allele number (rs10191329*A) and annualized rates of peripapillary retinal nerve fiber layer (aLpRNFL) and macular ganglion-cell-and-inner-plexiform-layer (aLGCIPL) atrophy, adjusting for age, sex, MS-specific variables, and 10 ancestry components.</p><p><strong>Results: </strong>We included 183 RMS patients (mean age 35.9 years [SD 9.6], 74.9% female, median EDSS 2.0 [range 0-6.5], median observation 25 months [12-73], median OCT scans 3 [2-5]). Multivariable analyses revealed that each rs10191329*A allele was associated with a 0.10%/year increase in aLpRNFL (95% confidence interval [CI] 0.05-0.19, p < 0.001) and a 0.11%/year increase in aLGCIPL (95% CI 0.07-0.19, p < 0.001). The rs10191329 variant explained 8.9% of GCIPL atrophy and 8.2% of pRNFL atrophy variance.</p><p><strong>Interpretation: </strong>Carriers of the rs10191329 risk allele show accelerated retinal atrophy, suggesting heightened neuroaxonal vulnerability in MS. While clinical implications are currently unclear, genetic stratification may be reasonable in clinical trials targeting neuroprotection.</p>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":" ","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-08-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144783068","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
Serum Neurofilament Light Chain in Multiple Sclerosis: Superiority of Age- and BMI-Corrected Z Scores/Percentiles Over Absolute Cutoff Values for Prediction of Treatment Response. 多发性硬化症血清神经丝轻链:年龄和bmi校正Z分数/百分位数在预测治疗反应的绝对临界值上的优势
IF 3.9 2区 医学
Annals of Clinical and Translational Neurology Pub Date : 2025-08-03 DOI: 10.1002/acn3.70149
Maximilian Einsiedler, Aleksandra Maleska Maceski, Sofia Sandgren, Johanna Oechtering, Sabine Schaedelin, Lisa Hofer, Amar Zadic, Juan Francisco Vilchez Gomez, Lester Melie-Garcia, Alessandro Cagol, Riccardo Galbusera, Sebastian Finkener, Patrice Lalive, Marjolaine Uginet, Stefanie Müller, Caroline Pot, Amandine Mathias, Renaud Du Pasquier, Robert Hoepner, Andrew Chan, Giulio Disanto, Chiara Zecca, Marcus D'Souza, Lars G Hemkens, Tobias Derfuss, Özgür Yaldizli, Patrick Roth, Claudio Gobbi, David Brassat, Björn Tackenberg, Henrik Zetterberg, Tjalf Ziemssen, Heinz Wiendl, Klaus Berger, Marco Hermesdorf, Fredrik Piehl, Ludwig Kappos, Cristina Granziera, Ahmed Abdelhak, David Leppert, Eline A J Willemse, Pascal Benkert, Jens Kuhle
{"title":"Serum Neurofilament Light Chain in Multiple Sclerosis: Superiority of Age- and BMI-Corrected Z Scores/Percentiles Over Absolute Cutoff Values for Prediction of Treatment Response.","authors":"Maximilian Einsiedler, Aleksandra Maleska Maceski, Sofia Sandgren, Johanna Oechtering, Sabine Schaedelin, Lisa Hofer, Amar Zadic, Juan Francisco Vilchez Gomez, Lester Melie-Garcia, Alessandro Cagol, Riccardo Galbusera, Sebastian Finkener, Patrice Lalive, Marjolaine Uginet, Stefanie Müller, Caroline Pot, Amandine Mathias, Renaud Du Pasquier, Robert Hoepner, Andrew Chan, Giulio Disanto, Chiara Zecca, Marcus D'Souza, Lars G Hemkens, Tobias Derfuss, Özgür Yaldizli, Patrick Roth, Claudio Gobbi, David Brassat, Björn Tackenberg, Henrik Zetterberg, Tjalf Ziemssen, Heinz Wiendl, Klaus Berger, Marco Hermesdorf, Fredrik Piehl, Ludwig Kappos, Cristina Granziera, Ahmed Abdelhak, David Leppert, Eline A J Willemse, Pascal Benkert, Jens Kuhle","doi":"10.1002/acn3.70149","DOIUrl":"https://doi.org/10.1002/acn3.70149","url":null,"abstract":"<p><strong>Objective: </strong>Prognostication of disease course and prediction of treatment response in multiple sclerosis is an unmet need. We compared the performance of serum neurofilament light chain Z scores (age- and BMI-adjusted) with absolute concentrations for the prediction of response to disease-modifying therapy.</p><p><strong>Methods: </strong>Observational cohort study including the first serum sample of participants after the start of fingolimod therapy. We estimated hazard ratios for future relapses comparing participants with high (upper quartile) versus lower neurofilament light chain levels, based on either absolute concentration or Z score cutoffs. We compared the prognostic/predictive performance of these two measures for the occurrence of new/enlarging T2w lesions in longitudinal MRI.</p><p><strong>Results: </strong>We included 447 participants (median [IQR] age, 41.3 [32.1-49.2] years; 65.1% female); median follow-up 8.3 years [6.0-10.3]. Participants with a high neurofilament light chain Z score (Z ≥ 1.2/88.5 percentile) were more likely to experience future relapses (HR: 1.80, 95% CI 1.27-2.54, p < 0.001) compared to those below this threshold while this dichotomy could not be demonstrated with absolute concentration cutoffs (≥ vs. < 10.8 pg/mL; HR: 0.94, 95% CI 0.64-1.38, p = 0.75). Furthermore, patients with upper quartile Z scores were associated with a higher incidence of new/enlarging T2w lesions compared with those below this threshold (OR: 1.88, 95% CI 1.31-2.70, p < 0.001); again, absolute concentration cutoffs failed to identify this risk (OR: 1.20, 95% CI 0.82-1.77, p = 0.34). These findings were confirmed when patients having started alternative oral treatments were also included (n = 713).</p><p><strong>Interpretation: </strong>Serum neurofilament light chain Z scores consistently outperformed absolute concentration cutoffs for prognostication of clinical/radiological disease activity and may facilitate individual prediction of treatment response.</p>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":" ","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-08-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144774368","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
Commentary on "The Impact of Diabetes and Metabolic Syndrome Burden on Pain, Neuropathy Severity and Fiber Type". “糖尿病和代谢综合征负担对疼痛、神经病变严重程度和纤维类型的影响”评论。
IF 3.9 2区 医学
Annals of Clinical and Translational Neurology Pub Date : 2025-07-31 DOI: 10.1002/acn3.70151
Majid Khalilizad, Ebrahim Hejazian, Mohammad Barary, Mostafa Javanian, Soheil Ebrahimpour
{"title":"Commentary on \"The Impact of Diabetes and Metabolic Syndrome Burden on Pain, Neuropathy Severity and Fiber Type\".","authors":"Majid Khalilizad, Ebrahim Hejazian, Mohammad Barary, Mostafa Javanian, Soheil Ebrahimpour","doi":"10.1002/acn3.70151","DOIUrl":"https://doi.org/10.1002/acn3.70151","url":null,"abstract":"","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":" ","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144937173","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
Central Dysmyelination in SSADH-Deficient Humans and Mice. ssadh缺乏的人和小鼠中枢性髓鞘发育异常。
IF 3.9 2区 医学
Annals of Clinical and Translational Neurology Pub Date : 2025-07-31 DOI: 10.1002/acn3.70148
Itay Tokatly Latzer, Henry H C Lee, Edward Yang, Cesar Alves, Mariarita Bertoldi, Caitlyn Fung, Spencer V Steele, Eren Kule, Zijie Jin, Alexander Rotenberg, Jean-Baptiste Roullet, Phillip L Pearl
{"title":"Central Dysmyelination in SSADH-Deficient Humans and Mice.","authors":"Itay Tokatly Latzer, Henry H C Lee, Edward Yang, Cesar Alves, Mariarita Bertoldi, Caitlyn Fung, Spencer V Steele, Eren Kule, Zijie Jin, Alexander Rotenberg, Jean-Baptiste Roullet, Phillip L Pearl","doi":"10.1002/acn3.70148","DOIUrl":"https://doi.org/10.1002/acn3.70148","url":null,"abstract":"<p><strong>Objectives: </strong>Succinic semialdehyde dehydrogenase deficiency (SSADHD) is an inherited metabolic disorder characterized by an accumulation of γ-aminobutyric (GABA). In addition to its synaptic role as an inhibitory neurotransmitter, GABA also plays an important role in myelination. We aimed to investigate the relationship between GABA and myelination abnormalities in SSADHD patients and the mouse model.</p><p><strong>Methods: </strong>Brain MRIs performed on 44 individuals (23 with SSADHD and 21 healthy controls) were independently reviewed by two neuroradiologists and scored using a disease-specific myelination scoring system. Inter-rater reliability (IRR) was assessed by the intraclass correlation coefficient. Myelination scores of SSADHD individuals were correlated with clinical, biochemical, magnetic resonance spectroscopy, and genetic data. Additionally, we investigated the expression of myelin-related genes in a mouse SSADHD model.</p><p><strong>Results: </strong>Dysmyelination in SSADHD patients was overall mild, but significantly greater than in healthy controls (p < 0.001). In SSADHD patients, lower myelination scores were significantly correlated with younger age (R = 0.775, p < 0.001) and higher plasma GABA (R = -0.722, p < 0.001) and γ-hydroxybutyric acid (GHB) (R = -0.683, p = 0.001). In SSADH-deficient mice, there was reduced expression of genes encoding myelin basic protein (p = 0.001), myelin-associated oligodendrocyte basic protein (p = 0.001), and mitochondrial aspartate transporter (p = 0.025).</p><p><strong>Interpretation: </strong>Excessive GABA and GHB, which characterize SSADHD and are further pronounced in younger SSADHD individuals, may account for delayed oligodendrocyte maturation and altered myelination dynamics in this disorder. Studying the properties of dysmyelination in this unique disorder enhances our understanding of GABA's mediating role on myelination and may contribute to monitoring disease progression and managing other white-matter neurological disorders.</p><p><strong>Trial registration: </strong>NCT03758521.</p>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":" ","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144751922","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
Medication Use in Multiple Sclerosis: A Population-Based Comparison With the General Danish Population. 多发性硬化症的药物使用:与丹麦普通人群的基于人群的比较
IF 3.9 2区 医学
Annals of Clinical and Translational Neurology Pub Date : 2025-07-31 DOI: 10.1002/acn3.70155
Josefine Windfeld-Mathiasen, Henrik Horwitz, Ida M Heerfordt, Elisabeth Framke, Melinda Magyari
{"title":"Medication Use in Multiple Sclerosis: A Population-Based Comparison With the General Danish Population.","authors":"Josefine Windfeld-Mathiasen, Henrik Horwitz, Ida M Heerfordt, Elisabeth Framke, Melinda Magyari","doi":"10.1002/acn3.70155","DOIUrl":"https://doi.org/10.1002/acn3.70155","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the overall use of prescription medications among individuals with multiple sclerosis compared to the general population, with a focus on treatments beyond disease-modifying therapies.</p><p><strong>Methods: </strong>We conducted a nationwide, registry-based study in Denmark. All residents with a diagnosis of multiple sclerosis aged 20-80 years and alive on January 1, 2023, were included and followed for 1 year. Each patient was matched with 10 individuals from the general population based on age, sex, and residence. Prescription data were obtained from the Danish National Prescription Registry and categorized using the Anatomical Therapeutic Chemical classification. Relative risks of medication use were calculated.</p><p><strong>Results: </strong>A total of 14,491 individuals with multiple sclerosis and 144,910 matched controls were included. Patients with multiple sclerosis had significantly higher use of several therapeutic drug classes, including analgesics (51% vs. 33%; RR: 1.56, 95% CI: 1.52-1.60), agents for constipation (12% vs. 3%; RR: 4.61, 95% CI: 4.36-4.88), spasmolytics, and urological medications. Among specific drugs, the most pronounced differences were observed for modafinil (RR: 323.33, 95% CI: 228.67-457.19), baclofen (RR: 36.51, 95% CI: 33.33-39.99), and fesoterodine (RR: 36.36, 95% CI: 18.66-70.87). In contrast, individuals with multiple sclerosis had lower usage of antidiabetic medications and treatments for chronic obstructive pulmonary disease.</p><p><strong>Interpretation: </strong>This large, population-based study reveals extensive use of medications targeting symptoms and comorbidities in individuals with multiple sclerosis. These insights can guide healthcare providers in optimizing patient management, addressing overlooked treatment needs, and improving overall care.</p>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":" ","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144751923","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
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