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Neuroplasticity in Post-Traumatic Stress Disorder. 创伤后应激障碍的神经可塑性。
IF 0.8 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2025-07-23 DOI: 10.31083/RN33478
Beatriz López-López, Inmaculada Crespo

Introduction: Post-traumatic stress disorder (PTSD) develops in response to a traumatic experience, whether real or threatening, which produces emotions of intense fear and memory problems, significantly damaging the quality of life of those who manifest it. In recent years, anatomical-functional changes in the amygdala-hippocampus-prefrontal cortex circuit have begun to be studied as a key factor in the prevention, vulnerability, and treatment of PTSD, with neuroplasticity being one of the factors of greatest interest. Therefore, this review will address the latest published data regarding PTSD and neuroplasticity.

Development: Data from preclinical and clinical models support that a traumatic experience modifies both synaptic plasticity through electrophysiological and chemical variables, as well as myelin plasticity which enables short and long-distance connections. This remodelling of circuitry is crucial for the development of PTSD. However, it is also closely associated with prevention and positive treatment outcomes. Variables such as social support or the use of psychotherapy following a traumatic experience are linked to a good prognosis.

Conclusions: Therefore, there is an interesting connection between neuroplasticity and PTSD, although many questions remain open today, along with promising lines of prevention and intervention, including psychedelic substances.

简介:创伤后应激障碍(PTSD)是对创伤经历的反应,无论是真实的还是威胁的,都会产生强烈的恐惧情绪和记忆问题,严重损害那些表现出来的人的生活质量。近年来,杏仁核-海马体-前额叶皮层回路的解剖功能变化已开始作为PTSD预防、易感性和治疗的关键因素进行研究,其中神经可塑性是最受关注的因素之一。因此,本文将对最新发表的PTSD与神经可塑性相关数据进行综述。研究进展:来自临床前和临床模型的数据支持创伤经历通过电生理和化学变量改变突触可塑性,以及髓磷脂可塑性,使短距离和长距离连接成为可能。这种神经回路的重塑对PTSD的发展至关重要。然而,它也与预防和积极的治疗结果密切相关。诸如社会支持或创伤经历后心理治疗的使用等变量与良好的预后有关。结论:因此,神经可塑性和创伤后应激障碍之间存在有趣的联系,尽管今天仍有许多问题有待解决,以及有希望的预防和干预方法,包括致幻剂。
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引用次数: 0
Comunicaciones LX Reunión Anual SENFC Barcelona, 2 a 4 de octubre de 2024. 通讯LX巴塞罗那SENFC年会,2024年10月2日至4日。
IF 0.8 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2025-06-26 DOI: 10.31083/RN38514
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引用次数: 0
The Stroke Riskometer™ in the Outpatient Clinic as an Educational Campaign for Acute Ischemic Stroke. 在门诊诊所使用卒中风险测量仪作为急性缺血性卒中的教育活动。
IF 0.8 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2025-06-26 DOI: 10.31083/RN44277
Diego Alejandro Ortega-Moreno, Fernando Tienda-López, Egla Samantha Sánchez-Peralta, Ana Laura de León-Pérez, David Loaiza-Pérez, Fernando Chávez-Ríos, Fernando Góngora-Rivera

Introduction: Stroke is highly prevalent worldwide; however, associated symptoms and risk factors are unknown in the general population. Our aim was to describe the knowledge of early signs of stroke and its association with the risk of stroke at 5 and 10 years according to the "Stroke Riskometer™".

Subjects and methods: This was an observational, descriptive, cross-sectional study, including adults in the Neurology outpatient clinic of the University Hospital "Dr. José Eleuterio González". Vital signs were recorded, anthropometric and the "Stroke Riskometer™" measurements were collected, and the risks at 5 and 10 yearswere calculated. Patients were questioned about the early signs of stroke (with emphasis on the acronym FAST: F = Face uneven, A = Arm hanging down, S = Speech slurred, T = Time is vital [CAMALEÓN in Spanish]). Spearman's evaluation was used to measure the association between risk and knowledge of signs.

Results: A total of 300 participants were included; 208 (69.3%) were women and the mean age was 54.5 (±14.0) years. The most prevalent risk factors for stroke were sedentary lifestyle (46.3%), high blood pressure (40.0%), and diabetes (31.0%). The population median risk at 5 years was 3.6% (interquartile range (IQR) 1.9-7.0) and at 10 years 6.3% (IQR 3.1-14.0). Of all participants, 31.2% were aware of at least one early sign of stroke. No significant correlation was found between awareness of early signs and risk at 5 or 10 years (r = 0.039, p = 0.5; r = -0.05, p = 0.380, respectively).

Conclusions: Knowledge of the signs of stroke is low but remains an ongoing goal for educational campaigns in Mexico. A large-scale national and long-lasting campaign is necessary, given the high risk of stroke in the population.

中风在世界范围内非常普遍;然而,在一般人群中,相关症状和危险因素尚不清楚。我们的目的是描述中风早期症状的知识及其与5年和10年中风风险的关系,根据“中风风险计™”。对象和方法:这是一项观察性、描述性、横断面研究,包括大学医院jos Eleuterio博士González神经内科门诊的成年人。记录生命体征,收集人体测量值和“卒中风险测量仪”测量值,并计算5年和10年的风险。患者被问及中风的早期症状(重点是首字母缩写FAST: F =面部不均匀,A =手臂下垂,S =言语不清,T =时间至关重要[西班牙语CAMALEÓN])。斯皮尔曼的评价是用来衡量风险和标志知识之间的关系。结果:共纳入受试者300人;女性208例(69.3%),平均年龄54.5(±14.0)岁。中风最常见的危险因素是久坐不动的生活方式(46.3%)、高血压(40.0%)和糖尿病(31.0%)。5年人群中位风险为3.6%(四分位数范围(IQR) 1.9-7.0), 10年为6.3% (IQR 3.1-14.0)。在所有参与者中,31.2%的人至少意识到一种中风的早期迹象。早期症状意识与5年或10年风险无显著相关性(r = 0.039, p = 0.5;R = -0.05, p = 0.380)。结论:对中风症状的认识很低,但仍是墨西哥教育运动的持续目标。鉴于人群中中风的高风险,有必要开展大规模的全国性长期运动。
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引用次数: 0
Recognition of Basic Emotions Through Facial Expressions in Children with Attention-Deficit/Hyperactivity Disorder. 注意缺陷/多动障碍儿童面部表情对基本情绪的识别。
IF 0.8 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2025-06-25 DOI: 10.31083/RN37508
Adriana Noelia Lewtak, Rocio González, Jesica Brenda Custodio, Amada Del Rocio Mosquera Moncayo, Fernanda Rios Pistoia, Esteban Vaucheret Paz

Introduction: Attention-deficit/hyperactivity disorder (ADHD) is a neurodevelopmental disorder that affects attentional and executive functions, which may interfere with facial emotion recognition. This study explored the recognition of basic and complex emotions in pediatric subjects with ADHD.

Method: This was a prospective, cross-sectional, controlled study. A total of 60 participants were included, divided into two groups: the ADHD Group (n = 30) and the Control Group (n = 30) with neurotypical development. Each participant was presented with a series of photographs and video clips of children and adults and was asked to identify the emotion expressed on the face.

Results: No significant differences were found in the recognition of basic emotions between the Control Group (M = 44.43; SD = 2.01) and the ADHD Group (M = 43.90; SD = 2.14; t(58) = -0.995; p = 0.324), nor in the recognition of complex emotions [t(58) = 0.514; p = 0.609]. No differences were found by age [Z = 463; p = 0.843] or by sex (p = 0.92). We observed significantly better performance with a large effect size when recognizing child faces (M = 29.56; 95% CI 28.98-30.14) compared with adult faces (M = 14.86; 95% CI 14.46-15.26; p < 0.001; d = 11.03), with performance on adult faces improving with age (rho = 0.39; p = 0.03).

Conclusion: The ADHD Group did not show differential performance compared with the neurotypical group in emotion recognition. Performance significantly improved for child faces, suggesting that adult faces should be avoided when assessing this population. Recognition of adult faces improved with age.

注意力缺陷/多动障碍(ADHD)是一种影响注意力和执行功能的神经发育障碍,可能会干扰面部情绪识别。本研究探讨小儿ADHD患者对基本情绪和复杂情绪的认知。方法:前瞻性、横断面、对照研究。共纳入60名参与者,分为两组:ADHD组(n = 30)和神经发育正常的对照组(n = 30)。研究人员向每位参与者展示了一系列儿童和成人的照片和视频片段,并要求他们识别面部表情。结果:两组患者对基本情绪的认知差异无统计学意义(M = 44.43;SD = 2.01)和ADHD组(M = 43.90;Sd = 2.14;T (58) = -0.995;P = 0.324),在复杂情绪的识别上也没有[t(58) = 0.514;P = 0.609]。年龄差异无统计学意义[Z = 463;P = 0.843]或性别差异(P = 0.92)。我们观察到,当识别儿童面孔时,在较大的效应量下,我们的表现显著更好(M = 29.56;95% CI 28.98-30.14)与成人面部相比(M = 14.86;95% ci 14.46-15.26;P < 0.001;D = 11.03),随着年龄的增长,成人面部的表现也在提高(rho = 0.39;P = 0.03)。结论:ADHD组与神经正常组在情绪识别方面无明显差异。儿童面孔的表现显著提高,这表明在评估这一人群时应避免使用成人面孔。对成人面孔的识别能力随着年龄的增长而提高。
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引用次数: 0
Gepants: Key Features of A Potent Therapeutic Option and Considerations in The Latin American Context. 基因:一种有效治疗选择的关键特征和在拉丁美洲背景下的考虑。
IF 0.8 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2025-06-25 DOI: 10.31083/RN38637
David Ríos Patiño, Julián Cuartas Zapata, Adolfo León Vélez Aguirre

Migraine is a complex condition when considered from the perspective of its pathophysiology. Moreover, it is highly prevalent and of priority interest in public health. Gepants are a highly-effective and specific therapeutic option, although their recent arrival in Latin America raises particular questions and expectations. A narrative review of the four medications available outside Latin America at this time is provided and the main considerations that should be borne in mind before and during their adoption are presented. Appropriate patient selection and marketing cost will be key determinants for their consolidation as an alternative to traditional medications used in migraine.

从病理生理角度来看,偏头痛是一种复杂的疾病。此外,它非常普遍,是公共卫生的优先关注点。基因是一种非常有效和特殊的治疗选择,尽管它们最近出现在拉丁美洲引起了特殊的问题和期望。本文对目前拉丁美洲以外可用的四种药物进行了叙述性审查,并提出了在采用这些药物之前和期间应牢记的主要考虑因素。适当的患者选择和营销成本将是其巩固的关键决定因素,以替代传统药物用于偏头痛。
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引用次数: 0
Mapping Physiotherapy Approaches for Stroke Survivors in Catalonia: A Cross-Sectional Study. 绘制加泰罗尼亚中风幸存者的物理治疗方法:一项横断面研究。
IF 0.8 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2025-06-16 DOI: 10.31083/RN37316
Maria Masbernat-Almenara, Selma Peláez Hervás, Helena Fernández-Lago, Samira Gonzalez-Hoelling, Carina Salgueiro, Rosa Cabanas-Valdés

Background: Stroke is a leading cause of death and disability worldwide, prompting significant interest in rehabilitation. Despite existing recommendations and clinical guidelines, the current state of stroke rehabilitation practices in Catalonia remains unclear. This study aims to identify physiotherapists' main approaches for stroke survivors in Catalonia across recovery stages.

Methods: An observational study was conducted via an anonymous survey distributed among all the registered members of the College of Physiotherapists of Catalonia (CPC). A total of 118 physiotherapists from both the public and private sector participated. The study collected data on therapists' experience, preferred therapeutic modalities, user demographics, and work settings. The data was collected from January to March, 2023.

Results: The survey on stroke rehabilitation approaches showed that 57.60% of participants use a mix of methods (Basal Stimulation, Proprioceptive Neuromuscular Facilitation (PNF), neurodevelopmental or neurocognitive therapy) tailored to individuals or stroke stages, regardless of the work setting. Regarding the techniques, the most used were passive mobilization, stretching, task-oriented approaches, motor imagery, intensive therapy, mirror therapy, and balance training. In contrast, electrotherapy, music therapy, mindfulness, and advanced technologies were the least used.

Conclusions: Physiotherapists did not rely on a single technique or approach; instead, they combined various methods. Therefore, we are unable to definitively determine what constitutes conventional physiotherapy. Considering this ambiguity, it is recommended to explicitly identify the techniques and methods used during conventional physical therapy in all scientific studies.

Clinical trial registration: No: NCT05546840. 15 September 2022, https://clinicaltrials.gov/study/NCT05546840?cond=NCT05546840&rank.

背景:中风是世界范围内死亡和残疾的主要原因,引起了人们对康复的极大兴趣。尽管现有的建议和临床指南,目前的状态中风康复实践在加泰罗尼亚仍然不清楚。本研究旨在确定物理治疗师的主要方法中风幸存者在加泰罗尼亚的恢复阶段。方法:观察性研究通过匿名调查分布在加泰罗尼亚物理治疗师学院(CPC)的所有注册会员。共有118名来自公营及私营机构的物理治疗师参与。该研究收集了有关治疗师经验、首选治疗方式、用户人口统计和工作环境的数据。数据收集于2023年1月至3月。结果:对脑卒中康复方法的调查显示,57.60%的参与者使用适合个人或脑卒中阶段的混合方法(基础刺激、本体感觉神经肌肉促进(PNF)、神经发育或神经认知治疗),而不考虑工作环境。在技术方面,最常用的是被动动员、拉伸、任务导向方法、运动意象、强化疗法、镜像疗法和平衡训练。相比之下,电疗、音乐疗法、正念和先进技术的使用率最低。结论:物理治疗师不依赖于单一的技术或方法;相反,他们结合了各种方法。因此,我们不能明确地确定什么是传统物理治疗。考虑到这种模糊性,建议在所有科学研究中明确确定常规物理治疗中使用的技术和方法。临床试验注册:编号:NCT05546840。2022年9月15日,https://clinicaltrials.gov/study/NCT05546840?cond=NCT05546840&rank。
{"title":"Mapping Physiotherapy Approaches for Stroke Survivors in Catalonia: A Cross-Sectional Study.","authors":"Maria Masbernat-Almenara, Selma Peláez Hervás, Helena Fernández-Lago, Samira Gonzalez-Hoelling, Carina Salgueiro, Rosa Cabanas-Valdés","doi":"10.31083/RN37316","DOIUrl":"10.31083/RN37316","url":null,"abstract":"<p><strong>Background: </strong>Stroke is a leading cause of death and disability worldwide, prompting significant interest in rehabilitation. Despite existing recommendations and clinical guidelines, the current state of stroke rehabilitation practices in Catalonia remains unclear. This study aims to identify physiotherapists' main approaches for stroke survivors in Catalonia across recovery stages.</p><p><strong>Methods: </strong>An observational study was conducted via an anonymous survey distributed among all the registered members of the College of Physiotherapists of Catalonia (CPC). A total of 118 physiotherapists from both the public and private sector participated. The study collected data on therapists' experience, preferred therapeutic modalities, user demographics, and work settings. The data was collected from January to March, 2023.</p><p><strong>Results: </strong>The survey on stroke rehabilitation approaches showed that 57.60% of participants use a mix of methods (Basal Stimulation, Proprioceptive Neuromuscular Facilitation (PNF), neurodevelopmental or neurocognitive therapy) tailored to individuals or stroke stages, regardless of the work setting. Regarding the techniques, the most used were passive mobilization, stretching, task-oriented approaches, motor imagery, intensive therapy, mirror therapy, and balance training. In contrast, electrotherapy, music therapy, mindfulness, and advanced technologies were the least used.</p><p><strong>Conclusions: </strong>Physiotherapists did not rely on a single technique or approach; instead, they combined various methods. Therefore, we are unable to definitively determine what constitutes conventional physiotherapy. Considering this ambiguity, it is recommended to explicitly identify the techniques and methods used during conventional physical therapy in all scientific studies.</p><p><strong>Clinical trial registration: </strong>No: NCT05546840. 15 September 2022, https://clinicaltrials.gov/study/NCT05546840?cond=NCT05546840&rank.</p>","PeriodicalId":21281,"journal":{"name":"Revista de neurologia","volume":"80 5","pages":"37316"},"PeriodicalIF":0.8,"publicationDate":"2025-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12231508/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144561033","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
[Our Experience with Pediatric Patients Withdrawn from Pharmacological Treatment for Epilepsy who Remain Untreated]. [我们的经验,儿童患者退出药物治疗癫痫仍未治疗]。
IF 0.8 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2025-05-27 DOI: 10.31083/RN37196
Javier López Pisón, Candela Gómez Sánchez, Patricia Morte Coscolín, Maria Violeta Fariña Jara, Fernando Martínez Calvo, Ruth Fernando Martínez

Introduction: There are many variables to consider when withdrawing anti-epileptic seizure treatment and risk-benefit evaluation is required.

Material and methods: Retrospective study of patients from a neuropediatric clinic who were discontinued from pharmacological treatment for epilepsy and continued without treatment.

Results: Of 57 children from whom treatment was withdrawn, 34 remained without treatment. In 23 cases, treatment was withdrawn once, with a mean seizure-free time until withdrawal of 21 months and a mean age of 10.5 years. Three cases presented seizures but treatment was not reintroduced; the average time without a crisis was 44.78 months. Treatment was withdrawn twice in nine children and three times in two children, with a mean seizure-free time until withdrawal of 28.5 months; the average age was 16.3 years. Two cases presented seizures but treatment was not reintroduced; the average time without a crisis was 5.7 years. High-risk cases of recurrent epileptic seizures were left without anti-seizure medication: seven cases of intellectual disability, one refractory epilepsy, two cases of epilepsy with onset in adolescence, and in 11 children, 13 instances of failure in previous withdrawal attempts.

Discussion: The indication and maintenance of treatment with anti-seizure drugs in children must prioritize patient welfare and be based on three premises: the treatment is indicated, the treatment is tolerated, and the treatment is effective. The decision to withdraw must be made on a case-by-case basis, acknowledging the risk of relapse and taking into account efficacy and tolerance, especially in children with behavioral and neurodevelopmental disorders.

在退出抗癫痫发作治疗和风险-收益评估时需要考虑许多变量。材料和方法:回顾性研究来自神经儿科诊所的患者,他们停止了癫痫药物治疗并继续未经治疗。结果:57例患儿停止治疗,34例仍未治疗。23例患者停药一次,停药前平均无癫痫发作时间为21个月,平均年龄为10.5岁。3例出现癫痫发作,但未重新进行治疗;平均无危机时间为44.78个月。9例患儿停药2次,2例患儿停药3次,停药前平均无癫痫发作时间为28.5个月;平均年龄为16.3岁。2例出现癫痫发作,但未重新进行治疗;没有危机的平均时间为5.7年。复发性癫痫发作的高危病例未服用抗癫痫药物:7例智力残疾,1例难治性癫痫,2例起病于青春期的癫痫,11例儿童中,13例既往戒断尝试失败。讨论:儿童抗癫痫药物治疗的适应症和维持必须优先考虑患者的福利,并基于三个前提:治疗是指征的,治疗是耐受的,治疗是有效的。停药的决定必须在个案的基础上做出,承认复发的风险,并考虑到疗效和耐受性,特别是在患有行为和神经发育障碍的儿童中。
{"title":"[Our Experience with Pediatric Patients Withdrawn from Pharmacological Treatment for Epilepsy who Remain Untreated].","authors":"Javier López Pisón, Candela Gómez Sánchez, Patricia Morte Coscolín, Maria Violeta Fariña Jara, Fernando Martínez Calvo, Ruth Fernando Martínez","doi":"10.31083/RN37196","DOIUrl":"10.31083/RN37196","url":null,"abstract":"<p><strong>Introduction: </strong>There are many variables to consider when withdrawing anti-epileptic seizure treatment and risk-benefit evaluation is required.</p><p><strong>Material and methods: </strong>Retrospective study of patients from a neuropediatric clinic who were discontinued from pharmacological treatment for epilepsy and continued without treatment.</p><p><strong>Results: </strong>Of 57 children from whom treatment was withdrawn, 34 remained without treatment. In 23 cases, treatment was withdrawn once, with a mean seizure-free time until withdrawal of 21 months and a mean age of 10.5 years. Three cases presented seizures but treatment was not reintroduced; the average time without a crisis was 44.78 months. Treatment was withdrawn twice in nine children and three times in two children, with a mean seizure-free time until withdrawal of 28.5 months; the average age was 16.3 years. Two cases presented seizures but treatment was not reintroduced; the average time without a crisis was 5.7 years. High-risk cases of recurrent epileptic seizures were left without anti-seizure medication: seven cases of intellectual disability, one refractory epilepsy, two cases of epilepsy with onset in adolescence, and in 11 children, 13 instances of failure in previous withdrawal attempts.</p><p><strong>Discussion: </strong>The indication and maintenance of treatment with anti-seizure drugs in children must prioritize patient welfare and be based on three premises: the treatment is indicated, the treatment is tolerated, and the treatment is effective. The decision to withdraw must be made on a case-by-case basis, acknowledging the risk of relapse and taking into account efficacy and tolerance, especially in children with behavioral and neurodevelopmental disorders.</p>","PeriodicalId":21281,"journal":{"name":"Revista de neurologia","volume":"80 4","pages":"37196"},"PeriodicalIF":0.8,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12135635/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144216776","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
[Landau-Kleffner Syndrome: Current Etiopathogenesis and Management]. [Landau-Kleffner综合征:目前的发病机制和治疗]。
IF 0.8 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2025-05-27 DOI: 10.31083/RN42643
Alma D Méndez-Álvarez, Karla P Meneses-León, Dira B Monsalvo-Soler, Alondra M Morales-Segundo, Laura Gómez-Virgilio, Gustavo López-Toledo

Landau-Kleffner syndrome is a developmental epileptic encephalopathy that manifests mainly in pediatric patients, characterized by verbal auditory agnosia and focal, bilateral, and focal and diffuse epileptic activity, visualized through electroencephalographic recordings performed during sleep. It is a rare syndrome with a variable, multifactorial presentation and unknown etiology, although it has a genetic component in some cases. It is often associated with variants of the glutamate ionotropic receptor N-methyl-D-aspartate (NMDA) type subunit 2A (GRIN2A) gene, which encodes an NMDA receptor subunit of the same name that is involved in various neurophysiological processes. Modifications to this receptor could be associated with the clinical manifestations observed in patients. This review proposes a pathophysiological mechanism related to one of the clinical presentations of this disease, using information published in recent years, and contributes to the understanding of its pathology and the improvement of its management. This syndrome is a rare and complex disease; both its diagnosis and treatment are challenging, limiting patients' therapeutic options and compromising their quality of life.

Landau-Kleffner综合征是一种发展性癫痫性脑病,主要表现在儿科患者,其特征是言语听觉失认和局灶性、双侧性、局灶性和弥漫性癫痫活动,通过睡眠时的脑电图记录可见。这是一种罕见的综合征,具有可变的、多因素的表现和未知的病因,尽管在某些情况下它有遗传成分。它通常与谷氨酸嗜离子受体n -甲基- d -天冬氨酸(NMDA)型亚基2A (GRIN2A)基因的变异有关,该基因编码一个同名的NMDA受体亚基,参与各种神经生理过程。这种受体的修饰可能与患者观察到的临床表现有关。本文结合近年来发表的文献资料,对该疾病的一种临床表现提出了相关的病理生理机制,有助于对其病理的认识和治疗的改进。这种综合征是一种罕见而复杂的疾病;其诊断和治疗都具有挑战性,限制了患者的治疗选择并损害了他们的生活质量。
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引用次数: 0
[Alzheimer's and Its Diagnosis: Are We Prepared to Accompany Our Patients? Shared Care Planning as a Relational Framework]. 阿尔茨海默病及其诊断:我们准备好陪伴我们的病人了吗?作为关系框架的共享护理计划]。
IF 0.8 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2025-05-26 DOI: 10.31083/RN42462
Míriam Eimil-Ortiz, Pilar Alcántara-Miranda, Sonia Martínez-Morante
{"title":"[Alzheimer's and Its Diagnosis: Are We Prepared to Accompany Our Patients? Shared Care Planning as a Relational Framework].","authors":"Míriam Eimil-Ortiz, Pilar Alcántara-Miranda, Sonia Martínez-Morante","doi":"10.31083/RN42462","DOIUrl":"10.31083/RN42462","url":null,"abstract":"","PeriodicalId":21281,"journal":{"name":"Revista de neurologia","volume":"80 4","pages":"42462"},"PeriodicalIF":0.8,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12135631/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144216773","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
[Cerebrospinal Fluid Biomarker Profile in Atypical Alzheimer's Disease]. [非典型阿尔茨海默病的脑脊液生物标志物谱]。
IF 0.8 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2025-05-22 DOI: 10.31083/RN36399
Elisa Martínez Campos, Paula Tellechea Aramburo, Javier Sánchez Ruiz de Gordoa, Rosa Larumbe Ilundain

Introduction: Cerebrospinal fluid (CSF) biomarkers for Alzheimer's disease (AD) are essential for the early identification of non-amnestic phenotypes. Increased levels of total tau (t-tau) and phosphorylated tau (p-tau) have been reported in atypical AD cases, although the specific pattern remains a subject of debate. This study aimed to evaluate CSF biomarker profiles in relation to clinical phenotype.

Materials and methods: A retrospective review was performed, analyzing demographic data, time to diagnosis, clinical phenotype, and core AD biomarkers (beta-amyloid peptide 1-42 (Aβ1-42), t-tau, p-tau) in CSF from patients evaluated at University Hospital in Navarra between 2019 and 2022.

Results: The study included 57 patients (54% female, mean age 67 years), of whom 41 met AD diagnostic criteria. Among these, 10 patients (25%) presented with atypical phenotypes (50% aphasic, 30% frontal, 20% mixed non-amnestic). Compared with the amnestic phenotype, the atypical group exhibited significantly higher t-tau (562.9 pg/mL vs 320.3 pg/mL, p = 0.021) and p-tau (81.5 pg/mL vs 37.7 pg/mL, p = 0.016) levels, independent of age, sex, and time to diagnosis.

Conclusions: Atypical cases demonstrated increased tau levels, suggesting earlier and more extensive cortical damage than the amnestic phenotype. These findings underscore the significance of CSF biomarkers in phenotypic differentiation, disease course prediction, and individualized treatment strategies for AD.

阿尔茨海默病(AD)的脑脊液(CSF)生物标志物对于非遗忘表型的早期识别至关重要。据报道,在非典型AD病例中,总tau (t-tau)和磷酸化tau (p-tau)水平升高,尽管具体模式仍存在争议。本研究旨在评估脑脊液生物标志物谱与临床表型的关系。材料和方法:回顾性分析了2019年至2022年在纳瓦拉大学医院评估的患者的人口统计学数据、诊断时间、临床表型和脑脊液中的核心AD生物标志物(β -淀粉样肽1-42 (Aβ1-42)、t-tau、p-tau)。结果:本研究纳入57例患者(女性54%,平均年龄67岁),其中41例符合AD诊断标准。其中10例(25%)表现为非典型表型(50%为失语症,30%为额型,20%为混合性非遗忘)。与遗忘表型相比,非典型组的t-tau (562.9 pg/mL vs 320.3 pg/mL, p = 0.021)和p-tau (81.5 pg/mL vs 37.7 pg/mL, p = 0.016)水平显著高于遗忘表型,与年龄、性别和诊断时间无关。结论:非典型病例显示tau水平升高,表明比遗忘表型更早和更广泛的皮质损伤。这些发现强调了脑脊液生物标志物在阿尔茨海默病的表型分化、病程预测和个体化治疗策略中的重要性。
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引用次数: 0
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Revista de neurologia
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