Annals of Clinical and Translational Neurology最新文献

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Ofatumumab treatment in new-onset narcolepsy type 1 following SARS-CoV-2 infection Ofatumumab治疗SARS-CoV-2感染后新发1型发作性睡病
IF 4.4 2区 医学
Annals of Clinical and Translational Neurology Pub Date : 2024-12-27 DOI: 10.1002/acn3.52284
Xiaoli Wang, Xinbo Zhang, Na Yuan, Yonghong Liu
{"title":"Ofatumumab treatment in new-onset narcolepsy type 1 following SARS-CoV-2 infection","authors":"Xiaoli Wang,&nbsp;Xinbo Zhang,&nbsp;Na Yuan,&nbsp;Yonghong Liu","doi":"10.1002/acn3.52284","DOIUrl":"10.1002/acn3.52284","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objectives</h3>\u0000 \u0000 <p>To explore the efficacy of ofatumumab in new onset narcolepsy type 1 following SARS-CoV-2 infection.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We present a 9-year-old girl who experienced new onset narcolepsy type 1 following SARS-CoV-2 infection. Polysomnography (PSG) followed by a daytime multiple sleep latency test (MSLT) was under taken after admission. A lumbar puncture was performed to evaluate the CSF orexin-A level. We assessed the CSF hypocretin-1 concentration utilizing the RIA kit from Phoenix Pharmaceuticals Inc. HLA typing was performed. Furthermore, we treated the patient with subcutaneous injections of ofatumumab, and followed her for nearly six-month. The CSF orexin-A level, CD19+ and total B cell population were measured before and after treatment.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The girl had experienced SARS-CoV-2 infection 4 months before presentation. After that, she started to experience excessive daytime sleepiness and cataplexy. She also began to experience nightmares and violent behaviors during her nocturnal sleep, which were not present before her SARS-CoV-2 infection. At the same time, she developed obesity and exhibited psychiatric symptoms such as agitation, anxiety, and aggression. MSLT showed a mean sleep latency of 2.7 min, and 5 times sleep onset REM periods. The CSF orexin-A level was pathologically low at 34.06 pg/mL, and she tested positive for HLA-DQB1*06:02. Consequently, a diagnosis of narcolepsy type 1 was confirmed. Before and after treatment with subcutaneous injections of ofatumumab, the CD19+ and total B cell population before treatment and after 1 months showed a significant reduction from 11% and 296 cells per microliter to 0.56% and 11 cells per microliter, respectively. Within a week following ofatumumab therapy, there was a marked improvement in both excessive daytime sleepiness and cataplexy. Notably, her cataplexy was almost entirely resolved following ofatumumab therapy. Her condition remained stable throughout the 9-month follow-up period. She could normally attend school.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>The efficacy of ofatumumab in this case provides additional support for an autoimmune etiology in narcolepsy with cataplexy, highlighting the potential involvement of B-cells in its pathophysiology. This understanding will aid in the development of specific immunotherapeutic strategies for early implementation upon disease onset.</p>\u0000 </section>\u0000 </div>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":"12 3","pages":"666-669"},"PeriodicalIF":4.4,"publicationDate":"2024-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/acn3.52284","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142890624","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
Iatrogenic cerebral amyloid angiopathy and Alzheimer's disease co-pathology 医源性脑淀粉样血管病与阿尔茨海默病的共同病理。
IF 4.4 2区 医学
Annals of Clinical and Translational Neurology Pub Date : 2024-12-27 DOI: 10.1002/acn3.52278
Francisco Hernández-Fernández, Isabel Martínez-Fernández, Rosa Barbella-Aponte, Inmaculada Feria Vilar, Oscar Ayo-Martín, Jorge García-García, Rosa Collado, Alberto Andrés, Mar Hernández-Guillamón, Francisco José Pena Pardo, Cristina Barrena, Miguel de la Fuente, Gemma Serrano-Heras, María Melero, Elena Lozano Setién, Luis López, Tomás Segura
{"title":"Iatrogenic cerebral amyloid angiopathy and Alzheimer's disease co-pathology","authors":"Francisco Hernández-Fernández,&nbsp;Isabel Martínez-Fernández,&nbsp;Rosa Barbella-Aponte,&nbsp;Inmaculada Feria Vilar,&nbsp;Oscar Ayo-Martín,&nbsp;Jorge García-García,&nbsp;Rosa Collado,&nbsp;Alberto Andrés,&nbsp;Mar Hernández-Guillamón,&nbsp;Francisco José Pena Pardo,&nbsp;Cristina Barrena,&nbsp;Miguel de la Fuente,&nbsp;Gemma Serrano-Heras,&nbsp;María Melero,&nbsp;Elena Lozano Setién,&nbsp;Luis López,&nbsp;Tomás Segura","doi":"10.1002/acn3.52278","DOIUrl":"10.1002/acn3.52278","url":null,"abstract":"<p>Iatrogenic cerebral amyloid angiopathy, a disease caused by contact with neurosurgical material or human growth hormone contaminated by beta-amyloid peptide (Aβ), has a prion-like transmission mechanism. We present a series of three patients under 55 years of age who underwent cranial surgery. All of them developed multiple cerebral hemorrhages, transient focal neurological deficits, and/or cognitive impairment after 3–4 decades. MRI was compatible with CAA, and Aβ deposition was confirmed. The third patient, who had a ventriculoperitoneal valve, also showed Aβ deposition in the peritoneum and diagnostic biomarkers of Alzheimer's disease. Co-pathology with Alzheimer disease and its iatrogenic transmission should be considered.</p>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":"12 1","pages":"235-241"},"PeriodicalIF":4.4,"publicationDate":"2024-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11752100/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142890622","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
Alpha-synuclein RT-QuIC assay in gastroduodenal and skin biopsies of Parkinson disease patients 帕金森病患者胃十二指肠和皮肤活检中α -突触核蛋白RT-QuIC检测。
IF 4.4 2区 医学
Annals of Clinical and Translational Neurology Pub Date : 2024-12-21 DOI: 10.1002/acn3.52282
Aron Emmi, Angela Mammana, Michele Sandre, Simone Baiardi, Luca Weis, Marcello Rossi, Franco Magliocchetti, Edoardo Savarino, Francesco Paolo Russo, Andrea Porzionato, Miryam Carecchio, Marta Campagnolo, Angelo Antonini, Piero Parchi
{"title":"Alpha-synuclein RT-QuIC assay in gastroduodenal and skin biopsies of Parkinson disease patients","authors":"Aron Emmi,&nbsp;Angela Mammana,&nbsp;Michele Sandre,&nbsp;Simone Baiardi,&nbsp;Luca Weis,&nbsp;Marcello Rossi,&nbsp;Franco Magliocchetti,&nbsp;Edoardo Savarino,&nbsp;Francesco Paolo Russo,&nbsp;Andrea Porzionato,&nbsp;Miryam Carecchio,&nbsp;Marta Campagnolo,&nbsp;Angelo Antonini,&nbsp;Piero Parchi","doi":"10.1002/acn3.52282","DOIUrl":"10.1002/acn3.52282","url":null,"abstract":"<p>In this study, we compared the value of pathological alpha-synuclein (αSyn) seed amplification assay (SAA) in gastric and duodenal biopsies with skin biopsies in Parkinson disease (PD) patients with different disease duration. The accuracy of αSyn SAA was 87.7% in skin, 67.4% in duodenum, and 80.0% in gastric biopsies, with significantly higher sensitivity in advanced PD (skin: 81.8%; gastric: 88.9%; duodenal 58.8%). Misfolded αSyn was detected with higher sensitivity in advanced PD across all matrices, likely reflecting the progression of αSyn pathology. The seeding activity was lower in the duodenal than in the gastric wall, indicating differences in αSyn burden.</p>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":"12 3","pages":"637-642"},"PeriodicalIF":4.4,"publicationDate":"2024-12-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/acn3.52282","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142870603","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
Progressive brain atrophy and cortical reorganization related to surgery in temporal lobe epilepsy 进行性脑萎缩和皮层重组与颞叶癫痫手术有关。
IF 4.4 2区 医学
Annals of Clinical and Translational Neurology Pub Date : 2024-12-21 DOI: 10.1002/acn3.52285
Wei Li, Yingjie Qin, Xiuli Li, Heng Zhang, Qiyong Gong, Dong Zhou, Dongmei An
{"title":"Progressive brain atrophy and cortical reorganization related to surgery in temporal lobe epilepsy","authors":"Wei Li,&nbsp;Yingjie Qin,&nbsp;Xiuli Li,&nbsp;Heng Zhang,&nbsp;Qiyong Gong,&nbsp;Dong Zhou,&nbsp;Dongmei An","doi":"10.1002/acn3.52285","DOIUrl":"10.1002/acn3.52285","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Epilepsy is associated with progressive cortical atrophy exceeding normal aging. We aimed to explore longitudinal cortical alterations in patients with temporal lobe epilepsy (TLE) and distinct surgery outcomes.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We obtained longitudinal T1-weighted MRI data in a well-designed cohort, including 53 operative TLE patients, 23 nonoperative TLE patients, and 23 healthy controls. According to seizure outcomes at 24 months after surgery, operative patients were divided into seizure-free (SF) and nonseizure-free (NSF) group. Operative patients were scanned before and after surgery, while nonoperative patients and healthy controls were rescanned with similar interval times. We measured gray matter volume (GMV) in all participants and compared longitudinal cortical alterations among groups.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>In nonoperative group, statistically significant GMV decrease was observed in ipsilateral median cingulate and paracingulate gyri and cerebellum crus I when compared with healthy controls. In operative group, postoperative GMV increase was discovered in many regions involving bilateral hemispheres, especially in the frontal lobe, without differences between SF and NSF group. Postoperative GMV decrease was found in ipsilateral inferior frontal gyrus, putamen, thalamus, and insula. GMV decrease in ipsilateral inferior frontal gyrus, putamen, and insula was more significant in SF group.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>Progressive cortical atrophy existed in nonoperative TLE patients. Cortical remodeling indicated by postoperative GMV increase may arise mostly from the surgery itself, rather than postsurgical seizure outcomes. More significant GMV decrease in ipsilateral inferior frontal gyrus, putamen, and insula may imply their closer connections with resected regions in seizure-free patients.</p>\u0000 </section>\u0000 </div>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":"12 2","pages":"383-392"},"PeriodicalIF":4.4,"publicationDate":"2024-12-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/acn3.52285","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142870618","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
Autoimmune brainstem encephalitis: Clinical associations, outcomes, and proposed diagnostic criteria 自身免疫性脑干脑炎:临床关联、结果和建议的诊断标准
IF 4.4 2区 医学
Annals of Clinical and Translational Neurology Pub Date : 2024-12-21 DOI: 10.1002/acn3.52273
Michael Gilligan, Smathorn Thakolwiboon, Emma Orozco, Samantha Banks, Eoin P. Flanagan, Sebastian Lopez-Chiriboga, Jan-Mendelt Tillema, John R. Mills, Sean J. Pittock, Cristina Valencia Sanchez, Anastasia Zekeridou, Divyanshu Dubey, Andrew McKeon
{"title":"Autoimmune brainstem encephalitis: Clinical associations, outcomes, and proposed diagnostic criteria","authors":"Michael Gilligan,&nbsp;Smathorn Thakolwiboon,&nbsp;Emma Orozco,&nbsp;Samantha Banks,&nbsp;Eoin P. Flanagan,&nbsp;Sebastian Lopez-Chiriboga,&nbsp;Jan-Mendelt Tillema,&nbsp;John R. Mills,&nbsp;Sean J. Pittock,&nbsp;Cristina Valencia Sanchez,&nbsp;Anastasia Zekeridou,&nbsp;Divyanshu Dubey,&nbsp;Andrew McKeon","doi":"10.1002/acn3.52273","DOIUrl":"10.1002/acn3.52273","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>We describe neurologic phenotype, clinical associations, and outcomes in autoimmune brainstem encephalitis.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Medical records of neural-IgG positive autoimmune brainstem encephalitis patients diagnosed at Mayo Clinic (January 1, 2006–December 31, 2022) were reviewed.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Ninety-eight patients (57 male) were included. Median age of symptom onset was 51 years (range, 8 months-85 years). Frequent presenting features were ≥1: diplopia (80%), ataxia (78%), dysarthria (68%), vestibulocochlear symptoms (67%), dysphagia (61%), nausea/vomiting (42%), and facial weakness (32%). Altered mental status (11%) was uncommon. Neural antibodies detected were as follows: KLHL-11 (26 patients), GAD65 (high titer, 12), ANNA-1 (anti-Hu, 8), ANNA-2 (anti-Ri, 8), Ma2 (7), IgLON-5 (6), AQP4 (6), MOG (4), glycine receptor (4), GQ1B (4), PCA-1 (anti-Yo, 4), DPPX (2), neurochondrin (2), neurofilament (2), NMDA-R (2), AGNA-1 (SOX-1, 1), ANNA-3 (DACH1, 1), amphiphysin (1), CRMP-5 (1), ITPR-1 (1), PCA-Tr (DNER, 1), and PDE10A (1). Cancer was identified in 55 patients: germ cell (23 patients; 3 extra-testicular), ductal breast adenocarcinoma (8), small cell carcinoma (6, lung 4), adenocarcinomas (6), neuroendocrine carcinoma (3), hematologic (2), squamous cell (2), and other (7). Median modified Ranking score (mRS) at last follow-up was 3 (range, 0–6). Factors associated with poor outcome included abnormal brain MRI, bulbar symptoms, and elevated CSF IgG index. Kaplan–Meier analysis revealed faster progression to wheelchair in patients who were immunotherapy refractory and with elevated CSF IgG index. Diagnostic criteria for autoimmune brainstem encephalitis (definite and probable) are proposed.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>Autoimmune brainstem encephalitis is a distinct clinical subphenotype of autoimmune encephalitis. Abnormal brain MRI, bulbar symptoms, and elevated CSF-IgG index associate with poor outcome.</p>\u0000 </section>\u0000 </div>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":"12 1","pages":"213-225"},"PeriodicalIF":4.4,"publicationDate":"2024-12-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11752097/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142870616","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 epidemiology and clinical presentation of seropositive neuromyelitis optica spectrum disorder in a US population 美国人群血清阳性视神经脊髓炎谱系障碍的流行病学和临床表现。
IF 4.4 2区 医学
Annals of Clinical and Translational Neurology Pub Date : 2024-12-21 DOI: 10.1002/acn3.52268
Aaron M. Carlson, Carlos E.V. Sollero, Andrew B. Wolf, Stefan Sillau, Barrie L. Schmitt, Kelli M. Money, Kavita V. Nair, Amanda L. Piquet, Jeffrey L. Bennett
{"title":"The epidemiology and clinical presentation of seropositive neuromyelitis optica spectrum disorder in a US population","authors":"Aaron M. Carlson,&nbsp;Carlos E.V. Sollero,&nbsp;Andrew B. Wolf,&nbsp;Stefan Sillau,&nbsp;Barrie L. Schmitt,&nbsp;Kelli M. Money,&nbsp;Kavita V. Nair,&nbsp;Amanda L. Piquet,&nbsp;Jeffrey L. Bennett","doi":"10.1002/acn3.52268","DOIUrl":"10.1002/acn3.52268","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>To define the epidemiology and clinical presentation of seropositive neuromyelitis optica spectrum disorder (NMOSD) in a large US health system.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We completed a retrospective observational study of adult patients in the University of Colorado Health System from 1 January 2011 to 31 December 2020, using Health Data Compass (HDC), a data warehouse that combines electronic health information with claims and public health data in Colorado. We screened HDC for patients with either (1) an abnormal aquaporin-4 IgG test or (2) any G36 ICD-10 code. We extracted key clinical elements by chart review and confirmed diagnosis by the 2015 International Panel for NMO Diagnosis criteria. Annual incidence and prevalence rates were calculated.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Our population consisted of 2,475,591 individuals contributing 11,103,522.72 person-years of observation. In total, 115 seropositive NMOSD patients were identified. The average yearly incidence was 0.22 per 100,000 person-years. Age and sex-adjusted prevalence (per 100,000) was 4.33, and highest among those identifying as Asian or Pacific Islander (17.72), and Black (14.74), as separately by Hispanic ethnicity (8.02). Prevalence was higher in women (6.20:1 female:male ratio). Transverse myelitis (45%) and optic neuritis (43%) were the most common presenting clinical syndromes. In total, 6% of initial presentations were characterized by short-segment transverse myelitis without other features.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>Seropositive NMOSD incidence is higher in our cohort than many contemporary studies. Women and those identifying as Asian or Pacific Islander, Black, and Hispanic shoulder the highest burden of disease. Clinical onset with short-segment myelitis underscores the need for serum aquaporin-4 IgG testing in acute myelitis presentations.</p>\u0000 </section>\u0000 </div>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":"12 1","pages":"169-179"},"PeriodicalIF":4.4,"publicationDate":"2024-12-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11752084/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142870620","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
APOE genotype and brain amyloid are associated with changes in the plasma proteome in elderly subjects without dementia APOE 基因型和脑淀粉样蛋白与未患痴呆症的老年人血浆蛋白质组的变化有关。
IF 4.4 2区 医学
Annals of Clinical and Translational Neurology Pub Date : 2024-12-17 DOI: 10.1002/acn3.52250
Sarah M. Philippi, Kailash BP, Towfique Raj, Joseph M. Castellano
{"title":"APOE genotype and brain amyloid are associated with changes in the plasma proteome in elderly subjects without dementia","authors":"Sarah M. Philippi,&nbsp;Kailash BP,&nbsp;Towfique Raj,&nbsp;Joseph M. Castellano","doi":"10.1002/acn3.52250","DOIUrl":"10.1002/acn3.52250","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Recent work has bolstered the possibility that peripheral changes may be relevant to Alzheimer's disease pathogenesis in the brain. While age-associated blood-borne proteins have been targeted to restore function to the aged brain, it remains unclear whether other dysfunctional systemic states can be exploited for similar benefits. Here, we investigate whether <i>APOE</i> allelic variation or presence of brain amyloid are associated with plasma proteomic changes and the molecular processes associated with these changes.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Using the SOMAscan assay, we measured 1305 plasma proteins from 53 homozygous, <i>APOE3</i> and <i>APOE4</i> subjects without dementia. We investigated the relationship of either the <i>APOE-ε4</i> allele or amyloid positivity with plasma proteome changes by linear mixed effects modeling and ontology-based pathway and module–trait correlation analyses.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p><i>APOE4</i> is associated with plasma protein differences linked to atherosclerosis, tyrosine kinase activity, cholesterol transport, extracellular matrix, and synaptogenesis pathways. Independent of <i>APOE4</i>, we found that subjects likely harboring brain amyloid exhibit plasma proteome signatures associated with AD-linked pathways, including neurovascular dysfunction.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>Our results indicate that <i>APOE4</i> status or presence of brain amyloid are associated with plasma proteomic shifts prior to the onset of symptoms, suggesting that systemic pathways in certain risk contexts may be plausible targets for disease modification.</p>\u0000 </section>\u0000 </div>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":"12 2","pages":"366-382"},"PeriodicalIF":4.4,"publicationDate":"2024-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/acn3.52250","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142845559","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
Priming and task-specific training for arm weakness post stroke: A randomized controlled trial 脑卒中后手臂无力的启动和任务特异性训练:一项随机对照试验。
IF 4.4 2区 医学
Annals of Clinical and Translational Neurology Pub Date : 2024-12-17 DOI: 10.1002/acn3.52271
Erin C. King, Jacob M. Schauer, Shyam Prabhakaran, Alexandra Wax, Sebastian Urday, Sangeetha Madhavan, Daniel M. Corcos, Mary Ellen Stoykov
{"title":"Priming and task-specific training for arm weakness post stroke: A randomized controlled trial","authors":"Erin C. King,&nbsp;Jacob M. Schauer,&nbsp;Shyam Prabhakaran,&nbsp;Alexandra Wax,&nbsp;Sebastian Urday,&nbsp;Sangeetha Madhavan,&nbsp;Daniel M. Corcos,&nbsp;Mary Ellen Stoykov","doi":"10.1002/acn3.52271","DOIUrl":"10.1002/acn3.52271","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>The objective of this work was to evaluate if task-specific training (TST) preceded by bilateral upper limb motor priming (BUMP) reduces upper limb impairment more than TST preceded by control priming ([CP], sham electrical stimulation) in people with chronic stroke.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>In this single-blind, randomized controlled trial, 76 adults with moderate to severe upper limb hemiparesis ≥6 months post-stroke were stratified by baseline impairment and randomized to receive either BUMP or CP prior to receiving the same TST protocol. Participants completed 30 h of treatment in 15 days over 6 weeks. The primary outcome was change in Fugl-Meyer upper extremity (FMUE) from baseline to 8-week follow-up. We also report clinically meaningful response rates defined as a change in FMUE score of 6 points or greater.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>In response to treatment, both groups improved to a significant extent at follow-up, exceeding the FMUE minimum clinically important difference. Those in BUMP and CP saw a mean change of 5.68 (SE 0.76, <i>p</i> &lt; 0.001) and 5.87 (SE 0.76, <i>p</i> &lt; 0.001) respectively. There was no significant difference between treatment arms (mean difference of −0.20 (95% CI = [−2.37, 1.97], SE = 1.08, <i>p</i> = 0.86)). A response of ≥6 points was observed in 46% in BUMP and 50% in CP.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>There was no beneficial effect of BUMP. The magnitude of change seen in both groups reflects the largest improvement achieved with just 22.5 h of TST in this population, matching or out-performing more invasive, time-intensive, and costly interventions proposed in recent years.</p>\u0000 </section>\u0000 </div>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":"12 1","pages":"192-202"},"PeriodicalIF":4.4,"publicationDate":"2024-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11752083/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142833196","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
Retinal thinning differentiates treatment effects in relapsing multiple sclerosis below the clinical threshold 视网膜变薄可区分低于临床阈值的复发性多发性硬化症的治疗效果。
IF 4.4 2区 医学
Annals of Clinical and Translational Neurology Pub Date : 2024-12-16 DOI: 10.1002/acn3.52279
Gabriel Bsteh, Harald Hegen, Nik Krajnc, Fabian Föttinger, Patrick Altmann, Michael Auer, Klaus Berek, Barbara Kornek, Fritz Leutmezer, Stefan Macher, Tobias Monschein, Markus Ponleitner, Paulus Rommer, Christiane Schmied, Karin Zebenholzer, Gudrun Zulehner, Tobias Zrzavy, Florian Deisenhammer, Franziska Di Pauli, Berthold Pemp, Thomas Berger
{"title":"Retinal thinning differentiates treatment effects in relapsing multiple sclerosis below the clinical threshold","authors":"Gabriel Bsteh,&nbsp;Harald Hegen,&nbsp;Nik Krajnc,&nbsp;Fabian Föttinger,&nbsp;Patrick Altmann,&nbsp;Michael Auer,&nbsp;Klaus Berek,&nbsp;Barbara Kornek,&nbsp;Fritz Leutmezer,&nbsp;Stefan Macher,&nbsp;Tobias Monschein,&nbsp;Markus Ponleitner,&nbsp;Paulus Rommer,&nbsp;Christiane Schmied,&nbsp;Karin Zebenholzer,&nbsp;Gudrun Zulehner,&nbsp;Tobias Zrzavy,&nbsp;Florian Deisenhammer,&nbsp;Franziska Di Pauli,&nbsp;Berthold Pemp,&nbsp;Thomas Berger","doi":"10.1002/acn3.52279","DOIUrl":"10.1002/acn3.52279","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>To investigate retinal layer thinning as a biomarker of disease-modifying treatment (DMT) effects in relapsing multiple sclerosis (RMS).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>From an ongoing prospective observational study, we included patients with RMS, who (i) had an optical coherence tomography (OCT) scan within 6 to 12 months after DMT start (rebaseline) and ≥1 follow-up OCT ≥12 months after rebaseline and (ii) adhered to DMT during follow-up. Differences between DMT in thinning of peripapillary-retinal-nerve-fiber-layer (pRNFL) and macular ganglion cell-plus-inner plexiform-layer (GCIPL) were analyzed using mixed-effects linear regression. Eyes suffering optic neuritis during follow-up were excluded.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We included 291 RMS patients (mean age 30.8 years [SD 7.9], 72.9% female, median disease duration 9 months [range 6–94], median rebaseline-to-last-follow-up-interval 32 months [12–82]).</p>\u0000 \u0000 <p>Mean annualized rates of retinal layer thinning (%/year) in reference to DMF (<i>n</i> = 84, GCIPL 0.28, pRNFL 0.53) were similar under TERI (<i>n</i> = 18, GCIPL 0.34, pRNFL 0.59), GLAT (<i>n</i> = 24, GCIPL 0.32, pRNFL 0.56), and IFNb (<i>n</i> = 13, GCIPL 0.33, pRNFL 0.60) were slightly lower under S1PM (<i>n</i> = 27, GCIPL 0.19, pRNFL 0.42) and CLA (<i>n</i> = 23, GCIPL 0.20, pRNFL 0.42), and were significantly lower under NTZ (<i>n</i> = 47, GCIPL 0.09, pRNFL 0.24; both <i>p</i> &lt; 0.001) and antiCD20 (<i>n</i> = 55, GCIPL 0.10, pRNFL 0.23; both <i>p</i> &lt; 0.001). In patients achieving NEDA-2, observed thinning rates were lower overall, but still significantly lower under NTZ and antiCD20.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>Applying a rebaselining concept, retinal layer thinning differentiates DMT effects even in clinically stable patients and, thus, might be a useful biomarker to monitor DMT efficacy on subclinical neuroaxonal degeneration—at least on a group level.</p>\u0000 </section>\u0000 </div>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":"12 2","pages":"345-354"},"PeriodicalIF":4.4,"publicationDate":"2024-12-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/acn3.52279","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142833265","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
Skull defect – Frontotemporal dementia sagging brain syndrome 颅骨缺损-额颞叶痴呆脑下垂综合征。
IF 4.4 2区 医学
Annals of Clinical and Translational Neurology Pub Date : 2024-12-15 DOI: 10.1002/acn3.52277
Wouter I. Schievink, Marcel M. Maya, Robin Babadjouni, Angelique Sao-Mai S. Tay, Rachelle B. Taché
{"title":"Skull defect – Frontotemporal dementia sagging brain syndrome","authors":"Wouter I. Schievink,&nbsp;Marcel M. Maya,&nbsp;Robin Babadjouni,&nbsp;Angelique Sao-Mai S. Tay,&nbsp;Rachelle B. Taché","doi":"10.1002/acn3.52277","DOIUrl":"10.1002/acn3.52277","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Frontotemporal dementia (FTD) sagging brain syndrome is a disabling condition. An underlying spinal Cerebrospinal fluid leak can be identified in only a minority of patients and the success rate of non-directed treatments is low. Some of these patients have a remote history of craniectomy/cranioplasty and we report a positive response to custom implant cranioplasty revision many years after their initial cranioplasty.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We reviewed medical records and imaging studies of 61 consecutive patients with FTD sagging brain syndrome. A SIH Disability Assessment Score (SIHDAS) questionnaire was completed to assess the severity of the symptoms before and after custom implant cranioplasty. Pre- and post-operative brain MRI was obtained to assess degree of brain sagging.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Eight (13.1%) of the 61 patients had a history of craniectomy/cranioplasty 1.5–13.5 years prior to onset of symptoms of FTD sagging brain syndrome. The mean age of the one woman and seven men at the time of presentation to our medical center was 50 years (range, 26–68 years). None had sinking scalp flap syndrome. Prior treatments included epidural blood patching and dural reduction surgery. Custom cranial implant surgery was performed in four patients and resulted in prompt and remarkable improvement of symptoms in three patients (SIHDAS: very severe disability to no or mild disability) and mild improvement in one patient. Brain MRI showed improvement of brain sagging.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>A disproportionate number of patients with FTD sagging brain syndrome have a remote history of supratentorial craniectomy/cranioplasty and revision cranioplasty should be considered.</p>\u0000 </section>\u0000 </div>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":"12 1","pages":"226-234"},"PeriodicalIF":4.4,"publicationDate":"2024-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11752090/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142826840","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
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