Arquivos de neuro-psiquiatria最新文献

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Antiamyloid therapies for Alzheimer's disease: an experts' dialogue on facts and controversies. 阿尔茨海默病的抗淀粉样蛋白疗法:关于事实和争议的专家对话。
IF 1.6 4区 医学
Arquivos de neuro-psiquiatria Pub Date : 2025-05-01 Epub Date: 2025-05-09 DOI: 10.1055/s-0045-1808083
Paulo Caramelli
{"title":"Antiamyloid therapies for Alzheimer's disease: an experts' dialogue on facts and controversies.","authors":"Paulo Caramelli","doi":"10.1055/s-0045-1808083","DOIUrl":"10.1055/s-0045-1808083","url":null,"abstract":"","PeriodicalId":8694,"journal":{"name":"Arquivos de neuro-psiquiatria","volume":"83 5","pages":"1-2"},"PeriodicalIF":1.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12064294/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143963389","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Brazilian Public Health System protocol for the diagnosis, treatment, and clinical monitoring of acute ischemic stroke. 巴西公共卫生系统急性缺血性脑卒中的诊断、治疗和临床监测方案。
IF 1.6 4区 医学
Arquivos de neuro-psiquiatria Pub Date : 2025-05-01 Epub Date: 2025-06-20 DOI: 10.1055/s-0045-1806923
Aline Rocha, Ana Carolina Pereira Numes Pinto, Cinara Stein, Verônica Colpani, Débora Gräf, Gilson Dorneles, Karlyse Claudino Belli, Suena Parahiba, Maicon Falavigna, Sheila Ouriques Martins, Álvaro Nagib Atallah
{"title":"Brazilian Public Health System protocol for the diagnosis, treatment, and clinical monitoring of acute ischemic stroke.","authors":"Aline Rocha, Ana Carolina Pereira Numes Pinto, Cinara Stein, Verônica Colpani, Débora Gräf, Gilson Dorneles, Karlyse Claudino Belli, Suena Parahiba, Maicon Falavigna, Sheila Ouriques Martins, Álvaro Nagib Atallah","doi":"10.1055/s-0045-1806923","DOIUrl":"10.1055/s-0045-1806923","url":null,"abstract":"<p><p>The Brazilian Ministry of Health has issued new recommendations for the management of patients with acute ischemic stroke. The protocol covers aspects related to diagnosis, treatment, and patient monitoring, expanding the available treatment options for patients treated within the Brazilian Public Health System (Sistema Único de Saúde - SUS, in Portuguese). This article discusses some of the recommendations presented in the current Clinical Practice Protocol, aiming to spread awareness of the document's updates and assist healthcare professionals and services in implementing these recommendations.</p>","PeriodicalId":8694,"journal":{"name":"Arquivos de neuro-psiquiatria","volume":"83 5","pages":"1-12"},"PeriodicalIF":1.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12180950/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144336286","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Endovascular thrombectomy for large-core stroke: a meta-analysis with trial sequential analysis. 大核卒中的血管内血栓切除术:一项荟萃分析与试验序列分析。
IF 1.6 4区 医学
Arquivos de neuro-psiquiatria Pub Date : 2025-05-01 Epub Date: 2025-05-13 DOI: 10.1055/s-0045-1806827
Marco Antonnio Rocha Dos Santos, Pierludovico Moro, Abner Lucas Balduino de Souza, Lauren Nirta, Thaís Pereira Mendes, Laura de Lima Xavier, Ming-Chieh Ding
{"title":"Endovascular thrombectomy for large-core stroke: a meta-analysis with trial sequential analysis.","authors":"Marco Antonnio Rocha Dos Santos, Pierludovico Moro, Abner Lucas Balduino de Souza, Lauren Nirta, Thaís Pereira Mendes, Laura de Lima Xavier, Ming-Chieh Ding","doi":"10.1055/s-0045-1806827","DOIUrl":"10.1055/s-0045-1806827","url":null,"abstract":"<p><p>Recent studies have reported that endovascular thrombectomy (ET) may improve neurological outcomes in large-core stroke.We performed a systematic review and meta-analysis to compare the pooled efficacy and safety of ET and of the best medical treatment among patients with large-core stroke.We searched the PubMed/MEDLINE, Scopus, and Cochrane databases from inception to November 2023. The inclusion criteria were randomized controlled trials (RCTs) comparing ET and the best medical treatment available among patients with large-core stroke (Alberta Stroke Program Early Computed Tomography Score [ASPECTS] < 6 or ischemic core > 50 mL on perfusion imaging) within 24 hours of symptom onset.We included 6 RTCs comprising 1,887 patients (ET group: <i>n</i> = 945). Endovascular thrombectomy was associated with good neurological outcomes (odds ratio [OR]: 2.92; 95% confidence interval [95%CI]: 2.17-3.93), or independent walking (OR: 2.22; 95%CI: 1.72-2.86). Trial sequential analysis confirmed a robust statistical significance for good neurological outcomes favoring ET. Endovascular thrombectomy was associated with higher risks of developing intracranial bleeding (OR: 2.65; 95%CI: 1.35-5.22) and symptomatic intracranial bleeding (OR: 1.83; 95%CI: 1.14-2.94). There were no differences between the groups regarding mortality or decompressive craniectomy. Patients submitted to non-contrast computed tomography (CT) with CT angiography (CTA) scans were analyzed separately and showed good neurological outcomes, comparable to those of the patients submitted to other imaging modalities (OR: 3.24; 95%CI: 1.52-6.92).Endovascular thrombectomy was associated with good neurological outcomes and independent walking in patients with large-core acute ischemic stroke. However, it was also associated with an increased risk of developing intracranial bleeding. Non-contrast head CT with CTA scans may be appropriate for screening patients to undergo ET.</p>","PeriodicalId":8694,"journal":{"name":"Arquivos de neuro-psiquiatria","volume":"83 5","pages":"1-12"},"PeriodicalIF":1.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12074828/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143961189","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
How the use of FDG PET is improving the diagnosis of dementia in a reference center in Recife, Brazil. 在巴西累西腓的一个参考中心,FDG PET的使用如何改善痴呆的诊断。
IF 1.6 4区 医学
Arquivos de neuro-psiquiatria Pub Date : 2025-05-01 Epub Date: 2025-05-21 DOI: 10.1055/s-0045-1808086
Luisa Couceiro de Albuquerque Macêdo, Raphaelly Ribeiro Campos, Luiz Eduardo Duarte Borges Nunes, Mariana Gonçalves Maciel Pinheiro, Alberto Henrique Torres Trindade da Silva, Maria Regina Vendas Carneiro Leão, Aldson Dos Santos Silva, Felipe Alves Mourato, Simone Cristina Soares Brandão, Breno José Alencar Pires Barbosa
{"title":"How the use of FDG PET is improving the diagnosis of dementia in a reference center in Recife, Brazil.","authors":"Luisa Couceiro de Albuquerque Macêdo, Raphaelly Ribeiro Campos, Luiz Eduardo Duarte Borges Nunes, Mariana Gonçalves Maciel Pinheiro, Alberto Henrique Torres Trindade da Silva, Maria Regina Vendas Carneiro Leão, Aldson Dos Santos Silva, Felipe Alves Mourato, Simone Cristina Soares Brandão, Breno José Alencar Pires Barbosa","doi":"10.1055/s-0045-1808086","DOIUrl":"10.1055/s-0045-1808086","url":null,"abstract":"<p><p>Since the advent of 18F-2-fluoro-2-deoxy-D-glucose ([18F]FDG, henceforth, FDG) in the 1970s as a neurochemical tracer, FDG positron emission tomography (PET) has been used for research in dementia and to help diagnose dementing neurodegenerative disorders. However, FDG PET is still unavailable in most centers, especially those in low- and middle-income countries, and there is limited data on biomarkers from patients in diverse populations, such Latin Americans.To analyze the main indications and how the use of FDG PET helped improve the diagnosis of dementia in a specialized center in Recife, one of the largest cities in Northeastern Brazil.We retrospectively analyzed data from 62 individuals under follow-up at our center between 2018 and 2023 who had a clinical diagnosis of dementia or mild cognitive impairment and underwent FDG PET scans.In 21/29 (72.4%) patients, FDG PET helped investigate the types of atypical neurodegenerative dementias; in 14/24 (58.3%), it clarified the clinical question in the investigation of early-onset dementia syndromes; and, in 9 cases, it was performed to differentiate between degenerative and non-degenerative dementias.These numbers may set the foundation for further longitudinal analyses and collaborative studies including participants from Northeastern Brazil.</p>","PeriodicalId":8694,"journal":{"name":"Arquivos de neuro-psiquiatria","volume":"83 5","pages":"1-8"},"PeriodicalIF":1.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12094862/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144118709","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Tenecteplase in acute ischemic stroke: a new era in thrombolysis. 替奈普酶在急性缺血性卒中中的应用:溶栓的新时代。
IF 1.6 4区 医学
Arquivos de neuro-psiquiatria Pub Date : 2025-05-01 Epub Date: 2025-06-01 DOI: 10.1055/s-0045-1808088
Gisele Sampaio Silva, Eva Rocha, Octávio Marques Pontes-Neto, Sheila Ouriques Martins
{"title":"Tenecteplase in acute ischemic stroke: a new era in thrombolysis.","authors":"Gisele Sampaio Silva, Eva Rocha, Octávio Marques Pontes-Neto, Sheila Ouriques Martins","doi":"10.1055/s-0045-1808088","DOIUrl":"10.1055/s-0045-1808088","url":null,"abstract":"<p><p>Tenecteplase (TNK) is a genetically engineered variant of alteplase, showing promise for acute ischemic stroke treatment. With a longer half-life and higher fibrin specificity, TNK enables more targeted and efficient clot dissolution. Clinical trials demonstrate potential advantages, including improved reperfusion rates and functional outcomes with lower systemic bleeding. Though not officially approved for this purpose by all regulatory agencies, TNK is used off-label and in acute stroke guidelines due to its ease of administration and effectiveness. The 0.25 mg/kg dosage within 4.5 hours of symptom onset was shown to be consistently effective and safe. Further trials are expected to identify patient subgroups that benefit most from TNK treatment. The present narrative review assesses the existing literature and evidence regarding the use of tenecteplase for the treatment of acute ischemic stroke.</p>","PeriodicalId":8694,"journal":{"name":"Arquivos de neuro-psiquiatria","volume":"83 5","pages":"1-11"},"PeriodicalIF":1.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12127046/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144198209","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Unmasking vertebral artery stump syndrome in recurrent posterior strokes treated with endovascular therapy. 血管内治疗复发性卒中后椎动脉残端综合征的揭露。
IF 1.6 4区 医学
Arquivos de neuro-psiquiatria Pub Date : 2025-05-01 Epub Date: 2025-06-01 DOI: 10.1055/s-0045-1806833
Leonardo Furtado Freitas, Kevin J Abrams, Márcio Luís Duarte, Guilherme C Dabus
{"title":"Unmasking vertebral artery stump syndrome in recurrent posterior strokes treated with endovascular therapy.","authors":"Leonardo Furtado Freitas, Kevin J Abrams, Márcio Luís Duarte, Guilherme C Dabus","doi":"10.1055/s-0045-1806833","DOIUrl":"10.1055/s-0045-1806833","url":null,"abstract":"","PeriodicalId":8694,"journal":{"name":"Arquivos de neuro-psiquiatria","volume":"83 5","pages":"1-3"},"PeriodicalIF":1.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12127042/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144198210","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Association among blood pressure, antihypertensive drugs, and amyotrophic lateral sclerosis. 血压、抗高血压药物与肌萎缩性侧索硬化症的关系。
IF 1.6 4区 医学
Arquivos de neuro-psiquiatria Pub Date : 2025-05-01 Epub Date: 2025-05-13 DOI: 10.1055/s-0045-1804922
Zhiguang Li, Yan Li, Jiankai Zhao, Feifei Zhang, Wei Dang, Yanan Jia, Fei Guo, Lixin Guo
{"title":"Association among blood pressure, antihypertensive drugs, and amyotrophic lateral sclerosis.","authors":"Zhiguang Li, Yan Li, Jiankai Zhao, Feifei Zhang, Wei Dang, Yanan Jia, Fei Guo, Lixin Guo","doi":"10.1055/s-0045-1804922","DOIUrl":"10.1055/s-0045-1804922","url":null,"abstract":"<p><strong>Background: </strong> Amyotrophic lateral sclerosis (ALS) is a fatal and incurable neurodegenerative disease. The impacts of antihypertensive drugs and blood pressure (BP) on ALS are currently debatable.</p><p><strong>Objective: </strong> To evaluate the causal relationship involving antihypertensive drugs, BP, and ALS through a Mendelian randomization (MR) analysis.</p><p><strong>Methods: </strong> The causal relationship between BP and ALS was evaluated by a bidirectional two-sample MR analysis. Then, a sensitivity analysis was performed using a secondary BP genome-wide association study. The drug-target MR was employed to evaluate the impact of antihypertensive drugs on ALS. Furthermore, we used cis-expression quantitative trait loci (cis-eQTLs) data from brain tissue and blood to validate the positive results by a summary-based MR method.</p><p><strong>Results: </strong> We found that an increment in systolic BP (SBP) could elevate the risk of ALS (inverse-variance weighted [IVW] odds ratio [OR] = 1.003; 95% confidence interval [95%CI]: 1.001-1.006; per 10-mmHg increment) and ALS might be protected by angiotensin-converting enzyme inhibitors (ACEIs; OR = 0.970; 95%CI: 0.956-0.984; <i>p</i> = 1.96 × 10<sup>-5</sup>; per 10-mmHg decrement). A causal relationship was not observed between diastolic BP and other antihypertensive drugs in ALS.</p><p><strong>Conclusion: </strong> In the present study, genetic support for elevated SBP serves as a risk factor for ALS. Besides, ACEIs hold promise as a candidate for ALS.</p>","PeriodicalId":8694,"journal":{"name":"Arquivos de neuro-psiquiatria","volume":"83 5","pages":"1-8"},"PeriodicalIF":1.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12074825/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143952534","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Brain activity and autonomic regulation in untreated migraine patients. 未经治疗的偏头痛患者的脑活动和自主神经调节。
IF 1.6 4区 医学
Arquivos de neuro-psiquiatria Pub Date : 2025-05-01 Epub Date: 2025-06-17 DOI: 10.1055/s-0045-1808085
Isabel Oliveira Monteiro, Juliana Novakovic, Miguel K Rodrigues, Joel S Cunha Neto, Maíra O V Rela, Mayron F Oliveira
{"title":"Brain activity and autonomic regulation in untreated migraine patients.","authors":"Isabel Oliveira Monteiro, Juliana Novakovic, Miguel K Rodrigues, Joel S Cunha Neto, Maíra O V Rela, Mayron F Oliveira","doi":"10.1055/s-0045-1808085","DOIUrl":"10.1055/s-0045-1808085","url":null,"abstract":"<p><p>Migraine causes intense pain, significant disability, deficits in attention and memory, slowed information processing, and cognitive disorders. However, it is unclear how migraine, cardiovascular, and cerebral issues impact daily life or relate to future adverse events.To evaluate the brain activity and autonomic regulation in untreated migraine patients.In the present case-control study, we compared untreated migraine patients with healthy controls. The participants underwent cognitive testing (Stroop Color Test, Trail Making Test, Addenbrooke's Cognitive Examination, and Reaction Time Test), brain activity measurement (MindWave Mobile), and autonomic regulation assessment via heart rate variability (Polar V800).No differences were found between the groups in terms of cognitive test scores. However, the healthy controls consistently showed increased variation in brain activity during the cognitive tests, while migraine patients exhibited decreased activity across all tests (<i>p</i> < 0.05). During the Stroop Color Test, the controls showed a positive change in brain activity (Δ = 5.12 ± 3.64) while the migraine patients showed a negative change (Δ = -5.41 ± 2.21). In addition, the control group demonstrated a normal autonomic response, with increased sympathetic activity (low-frequency [LF] band: 70.2-84.4 Hz) and decreased parasympathetic activity (high-frequency [HF] band: 29.6-15.6 Hz) during cognitive tasks (<i>p</i> < 0.05). In contrast, the migraine group showed imbalanced autonomic regulation, characterized by minimal changes in both sympathetic (LF band: 74.0-74.8 Hz) and parasympathetic activity (HF band: 25.9-25.1 Hz) (<i>p</i> > 0.05).Despite the similar cognitive test scores, migraine patients exhibited reduced variation in brain activity during cognitive tests and an imbalanced autonomic regulation, characterized by decreased sympathetic activity and increased parasympathetic activity.</p>","PeriodicalId":8694,"journal":{"name":"Arquivos de neuro-psiquiatria","volume":"83 5","pages":"1-8"},"PeriodicalIF":1.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12173543/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144315790","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Giancarlo Comi: a legacy in neurology and multiple sclerosis research. 詹卡洛·科米:神经病学和多发性硬化症研究的遗产。
IF 1.6 4区 医学
Arquivos de neuro-psiquiatria Pub Date : 2025-04-01 Epub Date: 2025-04-27 DOI: 10.1055/s-0045-1806830
Maria Fernanda Mendes
{"title":"Giancarlo Comi: a legacy in neurology and multiple sclerosis research.","authors":"Maria Fernanda Mendes","doi":"10.1055/s-0045-1806830","DOIUrl":"10.1055/s-0045-1806830","url":null,"abstract":"","PeriodicalId":8694,"journal":{"name":"Arquivos de neuro-psiquiatria","volume":"83 4","pages":"1-3"},"PeriodicalIF":1.6,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12034415/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143968066","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Genetic and clinical spectrum of early growth response 2-related Charcot-Marie-Tooth disease in a Brazilian cohort. 巴西队列中与早期生长反应2相关的腓骨肌萎缩症的遗传和临床谱
IF 1.6 4区 医学
Arquivos de neuro-psiquiatria Pub Date : 2025-04-01 Epub Date: 2025-04-22 DOI: 10.1055/s-0045-1806820
Eduardo Boiteux Uchôa Cavalcanti, Savana Camilla de Lima Santos, Christian Marques Couto, Galeno Vieira Rocha, Maria Cristina Del Negro Barroso Freitas, Osvaldo José Moreira do Nascimento
{"title":"Genetic and clinical spectrum of early growth response 2-related Charcot-Marie-Tooth disease in a Brazilian cohort.","authors":"Eduardo Boiteux Uchôa Cavalcanti, Savana Camilla de Lima Santos, Christian Marques Couto, Galeno Vieira Rocha, Maria Cristina Del Negro Barroso Freitas, Osvaldo José Moreira do Nascimento","doi":"10.1055/s-0045-1806820","DOIUrl":"10.1055/s-0045-1806820","url":null,"abstract":"<p><strong>Background: </strong> Charcot-Marie-Tooth (CMT) disease is a genetically diverse group of hereditary neuropathies. Most studies on the frequency of CMT subtypes report that the early growth response 2 (<i>EGR2</i>) gene accounts for less than 1% of cases. However, data regarding the epidemiology and clinical characteristics of <i>EGR2</i>-related CMT in Central and South America remain limited.</p><p><strong>Objective: </strong> To characterize the clinical and genetic features of <i>EGR2</i>-related CMT in a Brazilian cohort.</p><p><strong>Methods: </strong> We retrospectively analyzed clinical and ancillary data from four individuals with confirmed molecular diagnosis of <i>EGR2</i>-related CMT. Patients were categorized based on age of onset, motor nerve conduction velocity of the ulnar nerve, and nerve biopsy findings when available. Next-generation sequencing was utilized for genetic analysis.</p><p><strong>Results: </strong> Pathogenic and likely pathogenic variants were identified exclusively in the three zinc-finger domains of <i>EGR2</i>, including a novel variant, c.1234G > C (p.Glu412Gln). Patients exhibited significant variation in clinical severity and phenotypes. Dysphagia, respiratory complications, and scoliosis were prominent features.</p><p><strong>Conclusion: </strong> Our findings corroborate the complex and varied clinical presentations of <i>EGR2</i>-related CMT, highlighting respiratory issues and dysphagia as significant features. Comprehensive clinical assessment and early genetic diagnosis are essential for managing this condition's diverse phenotypic spectrum.</p>","PeriodicalId":8694,"journal":{"name":"Arquivos de neuro-psiquiatria","volume":"83 4","pages":"1-8"},"PeriodicalIF":1.6,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12020502/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143970365","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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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