Neurologia最新文献

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Tendencias de la mortalidad por esclerosis múltiple en España de 1981 a 2020 1981年至2020年西班牙多发性硬化症死亡率趋势
IF 2.9 4区 医学
Neurologia Pub Date : 2025-07-01 DOI: 10.1016/j.nrl.2023.06.014
L. Cayuela , A. de Albóniga-Chindurza , S. Gómez Enjuto , J. Lapeña-Motilva , S. Sainz de la Maza , A. González García , A. Cayuela
{"title":"Tendencias de la mortalidad por esclerosis múltiple en España de 1981 a 2020","authors":"L. Cayuela ,&nbsp;A. de Albóniga-Chindurza ,&nbsp;S. Gómez Enjuto ,&nbsp;J. Lapeña-Motilva ,&nbsp;S. Sainz de la Maza ,&nbsp;A. González García ,&nbsp;A. Cayuela","doi":"10.1016/j.nrl.2023.06.014","DOIUrl":"10.1016/j.nrl.2023.06.014","url":null,"abstract":"<div><h3>Objective</h3><div>Assess time trends in mortality from multiple sclerosis (MS) in the Spanish population (1981-2020), considering the influence of independent effects of gender, age, period, and birth cohort.</div></div><div><h3>Methods</h3><div>MS deaths and populations needed for calculations were obtained from the National Institute of Statistics. Age-standardised mortality rates (ASMR) and trend analysis were performed using joinpoint regression software. Age-period-cohort (APC) analysis was performed using the web-based statistical tool of the US National Cancer Institute to explore the underlying reason for the MS mortality.</div></div><div><h3>Results</h3><div>ASMR increased significantly in both women and men (1.7% and 1.2% respectively). The joinpoint analysis detected no trend change for women, but for men it detects a first period where rates remain stable (1981-2000; annual percentage change: −0.7%, not significant) followed by a period of significant increase (2000-2020; 2.6%, <em>P</em> <!-->&lt;<!--> <!-->.05). For period effects, a steady increase was observed among women since the early 1990s and among men since the late 1990s. A birth cohort-related increase in mortality was detected: women born from 1916 onwards see their risk of MS mortality increase until it peaks in 1956, after which it decreases. A similar pattern is observed in men, albeit with a decade delay (from 1926 to 1966).</div></div><div><h3>Conclusion</h3><div>ASMR shows a steady increase in both sexes over the last decades, although it has been more intense in men. The decreasing birth cohort pattern for MS mortality in men born since the mid-1960s and women born since the mid-1950s is similar to APC analyses in other countries.</div></div>","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 6","pages":"Pages 558-566"},"PeriodicalIF":2.9,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144522314","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Effectiveness of the intrathecal baclofen pump in the treatment of spasticity of different aetiologies: A systematic review and meta-analysis 鞘内巴氯芬泵治疗不同病因痉挛的有效性:系统回顾和荟萃分析
IF 2.9 4区 医学
Neurologia Pub Date : 2025-07-01 DOI: 10.1016/j.nrl.2023.06.007
I. Otero-Luis , A. Saz-Lara , I. Cavero-Redondo , C. Pascual-Morena , I. Martínez-García , S. Nuñez de Arenas-Arroyo
{"title":"Effectiveness of the intrathecal baclofen pump in the treatment of spasticity of different aetiologies: A systematic review and meta-analysis","authors":"I. Otero-Luis ,&nbsp;A. Saz-Lara ,&nbsp;I. Cavero-Redondo ,&nbsp;C. Pascual-Morena ,&nbsp;I. Martínez-García ,&nbsp;S. Nuñez de Arenas-Arroyo","doi":"10.1016/j.nrl.2023.06.007","DOIUrl":"10.1016/j.nrl.2023.06.007","url":null,"abstract":"<div><h3>Objective</h3><div>To analyze the effectiveness of intrathecal baclofen in the treatment of spasticity of different aetiologies in the upper limbs, lower limbs, and both children and adults.</div></div><div><h3>Design</h3><div>Meta-analysis.</div></div><div><h3>Subjects/Patients</h3><div>People with spasticity of different aetiologies in treatment with intrathecal baclofen.</div></div><div><h3>Methods</h3><div>A systematic search was performed in the PubMed, Scopus, Cochrane Library, and Web of Science databases with the earliest data available up to November 1, 2022. Random-effects models were used to calculate pooled mean difference estimates and their respective 95% CIs to assess the effectiveness of intrathecal baclofen treatment on spasticity of different aetiologies using the modified Ashworth scale. All statistical analyses were performed with STATA 15 software.</div></div><div><h3>Results</h3><div>Finally, 11 studies were included in the meta-analysis. The effect of baclofen treatment administered by an intrathecal pump on spasticity measured by the modified Ashworth scale led to a significant decrease in spasticity in both adults (MD: −1.54; 95% CI: −1.80, −1.27) and children (MD: −0.70; 95% CI: −0.91, −0.49), with greater effectiveness for lower limb spasticity (MD: −1.45; 95% CI: −1.93, −0.97). The results should be interpreted with caution since there is heterogeneity due to differences between populations (age or types of diseases).</div></div><div><h3>Conclusion</h3><div>These findings are important for clinical practice, as they demonstrate the efficacy of intrathecal baclofen in treatment of spasticity, thus improving patient quality of life, being more effective at a younger age and longer duration of treatment, always taking into account statistical limitations.</div></div>","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 6","pages":"Pages 577-585"},"PeriodicalIF":2.9,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144522315","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
The sensitive Amnesia Light and Brief Assessment (ALBA) is a valid 3-min test of 4 tasks indicative of mild cognitive deficits 灵敏遗忘轻与短暂评估(ALBA)是一种有效的3分钟4个任务的测试,表明轻度认知缺陷
IF 2.9 4区 医学
Neurologia Pub Date : 2025-07-01 DOI: 10.1016/j.nrl.2023.02.007
A. Bartos , S. Diondet
{"title":"The sensitive Amnesia Light and Brief Assessment (ALBA) is a valid 3-min test of 4 tasks indicative of mild cognitive deficits","authors":"A. Bartos ,&nbsp;S. Diondet","doi":"10.1016/j.nrl.2023.02.007","DOIUrl":"10.1016/j.nrl.2023.02.007","url":null,"abstract":"<div><h3>Background and purpose</h3><div>We report the development and validation of a unique, easily administered, but cognitively demanding 3-min test that does not require aids and can detect mild cognitive deficits (MCD).</div></div><div><h3>Methods</h3><div>The innovative Amnesia Light and Brief Assessment (ALBA) consists of 4 tasks: encoding the 6-word sentence “Indian summer brings first morning frost,” sequential demonstration of 6 gestures and their immediate recall, and final recall of the original sentence. The memory ALBA score is the sum of all correctly recalled sentence words and gestures. The ALBA was performed in 590 persons older than 50 years, including 60 individuals who completed a neuropsychological battery, equally divided into patients with MCD (Montreal Cognitive Assessment [MoCA] score of 21<!--> <!-->±<!--> <!-->3 points) and matched cognitively normal (CN) individuals (MoCA of 27<!--> <!-->±<!--> <!-->2).</div></div><div><h3>Results</h3><div>Compared to CN individuals, the patients with MCD recalled fewer correct sentence words (median, 5 vs 2) and gestures (4 vs 3), and had lower memory ALBA scores (10 vs 6) (all comparisons, <em>P</em> <!-->&lt;<!--> <!-->.00001). The cut-off point for the memory ALBA score was ≤8, with 90% sensitivity, 77% specificity, and an AUC of 0.90. Memory ALBA score correlated significantly with all neuropsychological tests except the Digit Span forward. The ALBA was minimally associated with education and age in the normative sample.</div></div><div><h3>Conclusions</h3><div>The novel and efficient ALBA test was confirmed to have high discriminant and convergent validity, even in patients with mild cognitive deficits. The ALBA is an ultra-brief and universal cognitive test suitable for assessing cognitive impairment, dementia, and other conditions. It can easily be adapted to other cultures and administered under various conditions and settings in clinical practice and research.</div></div>","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 6","pages":"Pages 586-598"},"PeriodicalIF":2.9,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144522206","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Angiopatía mineralizante: una causa de ictus arterial isquémico en la infancia temprana tras traumatismo craneoencefálico leve 矿化血管病:轻度脑外伤后儿童早期缺血性动脉中风的病因
IF 2.9 4区 医学
Neurologia Pub Date : 2025-06-01 DOI: 10.1016/j.nrl.2024.05.001
G. Prieto-Berchez , M.T. González-Campillo , J. Vicente-Rueda , E. López-Laso
{"title":"Angiopatía mineralizante: una causa de ictus arterial isquémico en la infancia temprana tras traumatismo craneoencefálico leve","authors":"G. Prieto-Berchez ,&nbsp;M.T. González-Campillo ,&nbsp;J. Vicente-Rueda ,&nbsp;E. López-Laso","doi":"10.1016/j.nrl.2024.05.001","DOIUrl":"10.1016/j.nrl.2024.05.001","url":null,"abstract":"<div><h3>Introduction</h3><div>Mineralizing angiopathy of lenticulostriate arteries has been reported as etiology of acute arterial ischemic stroke of basal ganglia after minor head trauma, mostly in infants. Patients present with focal neurological deficit, commonly hemiparesis, minutes to hours after head trauma. Diagnostic clue is the finding of ischemic stroke of basal ganglia after minor head trauma together with basal ganglia calcifications.</div></div><div><h3>Results</h3><div>We present a 21-month-old infant with an acute right hemiparesis preceded by mild head trauma 8<!--> <!-->hours before. Neuroimaging studies showed an ischemic stroke of left basal ganglia together with bilateral basal ganglia calcifications. Other ancillary studies were normal. The patient received treatment with acetylsalicylic acid for antiplatelet therapy. Prognosis was excellent, he recovered the focal neurological deficit, and no recurrences nor neurological sequelae were found after a 6 year follow-up.</div></div><div><h3>Conclusions</h3><div>A high index of suspicion is necessary to identify mineralizing angiopathy of lenticulostriate arteries as etiology of an acute arterial ischemic stroke of basal ganglia after minor head trauma in early infancy. Stroke recurrence is possible.</div></div>","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 5","pages":"Pages 468-472"},"PeriodicalIF":2.9,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144239645","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Point-of-care ultrasound for transient ischemic attack assessment in transient ischemic attack clinics: Consensus document of the Spanish Society of Neurosonology 在短暂性脑缺血发作诊所,即时超声评估短暂性脑缺血发作:西班牙神经声学学会共识文件
IF 2.9 4区 医学
Neurologia Pub Date : 2025-06-01 DOI: 10.1016/j.nrl.2023.04.004
L. Amaya-Pascasio , J. Rodríguez-Pardo de Donlebún , A. Arjona-Padillo , J. Fernández-Domínguez , M. Martínez-Martínez , R. Muñoz-Arrondo , J.M. García-Sánchez , J. Pagola Pérez de la Blanca , J. Carneado-Ruiz , P. Martínez-Sánchez
{"title":"Point-of-care ultrasound for transient ischemic attack assessment in transient ischemic attack clinics: Consensus document of the Spanish Society of Neurosonology","authors":"L. Amaya-Pascasio ,&nbsp;J. Rodríguez-Pardo de Donlebún ,&nbsp;A. Arjona-Padillo ,&nbsp;J. Fernández-Domínguez ,&nbsp;M. Martínez-Martínez ,&nbsp;R. Muñoz-Arrondo ,&nbsp;J.M. García-Sánchez ,&nbsp;J. Pagola Pérez de la Blanca ,&nbsp;J. Carneado-Ruiz ,&nbsp;P. Martínez-Sánchez","doi":"10.1016/j.nrl.2023.04.004","DOIUrl":"10.1016/j.nrl.2023.04.004","url":null,"abstract":"<div><div>In recent years, there has been increasing recognition of the benefits offered by rapid-access transient ischemic attack (TIA) clinics for the early assessment of patients with suspected TIA. These clinics, designed to deliver specialized diagnoses and treatments, play an important role in mitigating the risk of stroke recurrence. Most of these clinics benefit from using ultrasound diagnostic imaging conducted by qualified neurologists, which guides the treatment and management of TIA patients. This consensus document, developed by a working group from the Spanish Society of Neurosonology, introduces a novel concept for point-of-care ultrasound (POCUS), specifically focusing on optimizing the diagnostic process for TIA patients in the outpatient setting. The aim is to encourage experienced neurovascular clinicians to adopt a standardized, disease-oriented POCUS that can identify ultrasonographic findings related to the underlying cause of the TIA. Additionally, the document seeks to centralize the recommended diagnostic evaluations for TIA patients. By doing so, the goal is to optimize the diagnostic workup and subsequent treatment performed by the neurologist, fostering a more cohesive and effective approach to managing TIA cases.</div></div>","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 5","pages":"Pages 473-482"},"PeriodicalIF":2.9,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144239716","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Prevalence of multiple sclerosis in Spain. Estimates from the Primary Care Clinical Database (BDCAP) 西班牙多发性硬化症患病率。来自初级保健临床数据库(BDCAP)的估计
IF 2.9 4区 医学
Neurologia Pub Date : 2025-06-01 DOI: 10.1016/j.nrl.2023.06.006
L. Cayuela , C. García-Muñoz , S. Sainz de la Maza , A. Cayuela
{"title":"Prevalence of multiple sclerosis in Spain. Estimates from the Primary Care Clinical Database (BDCAP)","authors":"L. Cayuela ,&nbsp;C. García-Muñoz ,&nbsp;S. Sainz de la Maza ,&nbsp;A. Cayuela","doi":"10.1016/j.nrl.2023.06.006","DOIUrl":"10.1016/j.nrl.2023.06.006","url":null,"abstract":"<div><h3>Introduction</h3><div>The global prevalence of multiple sclerosis (MS) has increased in recent decades. However, there is a need for updated prevalence data for Spain.</div></div><div><h3>Objective</h3><div>To analyze the prevalence of MS in Spain using data from the Primary Care Clinical Database (BDCAP, for its Spanish initials) and to compare the prevalence results in different autonomous communities (AC) according to sex in 2021.</div></div><div><h3>Methods</h3><div>This cross-sectional study extracted data from the BDCAP on patients with MS according to sex, age, and place of residence in 2021. Crude prevalence rates were calculated, using the population assigned for each year of the study as the denominator. The geographic pattern of MS prevalence was analyzed using the following risk estimators: standardized prevalence ratio, smoothed relative risk (RR), and posterior probability of RR &gt;1.</div></div><div><h3>Results</h3><div>We estimated 61<!--> <!-->753 cases of MS, with a crude estimated prevalence rate of 132.0 cases per 100<!--> <!-->000 person-years and a female/male ratio of 2.0. The age-standardized prevalence rate was 123.5 cases per 100<!--> <!-->000 person-years. Age-specific prevalence rates were lower in men than in women. All indicators showed a north-south gradient. Seven ACs for women and 5 ACs for men showed a significant excess risk (primarily in the north of Spain), whereas 8 ACs for both women and men presented lower risk (mainly in the south).</div></div><div><h3>Conclusions</h3><div>Our results provide the most recent prevalence data for MS and the geographic patterns at the ACs level in Spain, revealing a north-south gradient. Our results pave the way for future strategies to manage the impact of MS in Spain and to understand causal hypotheses.</div></div>","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 5","pages":"Pages 447-455"},"PeriodicalIF":2.9,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144239714","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Validation of the American-Spanish Oxford Cognitive Screen (OCS-Sp): Normative data and psychometric properties in acute stroke patients 美国-西班牙牛津认知筛查(OCS-Sp)的验证:急性中风患者的标准数据和心理测量特性
IF 2.9 4区 医学
Neurologia Pub Date : 2025-06-01 DOI: 10.1016/j.nrl.2023.04.005
T. Julio-Ramos , C. Foncea-Gonzalez , C. Farias-Ulloa , S. Inostroza-Rojas , J. Conejeros-Pavez , D. Gutierrez-Vasquez , B. Soler-Leon , J. Saez-Martinez , P. Solinas-Ivys , N. Demeyere , S. Martinez-Ferreiro , C. Mendez-Orellana
{"title":"Validation of the American-Spanish Oxford Cognitive Screen (OCS-Sp): Normative data and psychometric properties in acute stroke patients","authors":"T. Julio-Ramos ,&nbsp;C. Foncea-Gonzalez ,&nbsp;C. Farias-Ulloa ,&nbsp;S. Inostroza-Rojas ,&nbsp;J. Conejeros-Pavez ,&nbsp;D. Gutierrez-Vasquez ,&nbsp;B. Soler-Leon ,&nbsp;J. Saez-Martinez ,&nbsp;P. Solinas-Ivys ,&nbsp;N. Demeyere ,&nbsp;S. Martinez-Ferreiro ,&nbsp;C. Mendez-Orellana","doi":"10.1016/j.nrl.2023.04.005","DOIUrl":"10.1016/j.nrl.2023.04.005","url":null,"abstract":"<div><h3>Introduction</h3><div>Cognitive impairment is a typical sequel and a solid long-term disability predictor that can be screened at early stages post-stroke. However, most routinely used cognitive screening tools were designed to detect dementia, which differs significantly from post-stroke cognitive impairment, including focal cognitive deficits. The Oxford Cognitive Screen (OCS), a cognitive bedside screening tool specifically designed for acute stroke, provides a good alternative for clinical practice.</div></div><div><h3>Aim</h3><div>This study aims at validating an American-Spanish version of the OCS (OCS-Sp) in healthy participants and acute stroke patients.</div></div><div><h3>Methods</h3><div>The original version of the OCS was linguistically and culturally adapted into American Spanish. A total of 152 volunteers were recruited, 87 healthy controls and 65 acute stroke patients. Normative data analysis for determining cut-off scores and psychometric validation and reliability analyses in the stroke cohort were completed.</div></div><div><h3>Results</h3><div>Following a linear regression model demonstrating age, gender, and particularly years of education affecting the performance of the OCS-Sp, the cut-off scores obtained for all subtests were adjusted by these demographic variables. Logistic regression classification analyses revealed that all subtests could discriminate between patients and healthy volunteers. No differences in performance between versions A and B of the test (<em>p</em> <!-->&gt;<!--> <!-->0.05) were found. The test–retest reliability results in patients showed high agreement between the scores obtained at both time points.</div></div><div><h3>Conclusions</h3><div>The OCS-Sp obtained similar psychometric scores to the original English version, demonstrating its validity and reliability as an instrument to assess cognitive impairments in American Spanish-speaking acute stroke patients.</div></div>","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 5","pages":"Pages 422-432"},"PeriodicalIF":2.9,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141394086","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Dystonic head tremor and neurocysticercosis 张力性头震颤和神经囊虫病
IF 2.9 4区 医学
Neurologia Pub Date : 2025-06-01 DOI: 10.1016/j.nrl.2023.06.009
A. Kleebayoon , V. Wiwanitkit
{"title":"Dystonic head tremor and neurocysticercosis","authors":"A. Kleebayoon ,&nbsp;V. Wiwanitkit","doi":"10.1016/j.nrl.2023.06.009","DOIUrl":"10.1016/j.nrl.2023.06.009","url":null,"abstract":"","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 5","pages":"Page 483"},"PeriodicalIF":2.9,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144239717","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Corrigendum to “Radiological findings of a symptomatic carotid pseudocclusion: “Guadiana river sign”” [Neurologia 32 (5) (2017) 334–337] 对“症状性颈动脉假性闭塞的影像学表现:“Guadiana河征””的更正[神经病学32 (5)(2017)334-337]
IF 2.9 4区 医学
Neurologia Pub Date : 2025-06-01 DOI: 10.1016/j.nrl.2025.05.001
I. Iniesta , A. Lamballe , M. Rodriguez Peña-Marin , J. Duignan , S. Zaman , I. Watson , P. Cariga , A. Ranta
{"title":"Corrigendum to “Radiological findings of a symptomatic carotid pseudocclusion: “Guadiana river sign”” [Neurologia 32 (5) (2017) 334–337]","authors":"I. Iniesta ,&nbsp;A. Lamballe ,&nbsp;M. Rodriguez Peña-Marin ,&nbsp;J. Duignan ,&nbsp;S. Zaman ,&nbsp;I. Watson ,&nbsp;P. Cariga ,&nbsp;A. Ranta","doi":"10.1016/j.nrl.2025.05.001","DOIUrl":"10.1016/j.nrl.2025.05.001","url":null,"abstract":"","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 5","pages":"Page 488"},"PeriodicalIF":2.9,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144239719","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Novel DES mutation presenting with isolated restrictive respiratory failure. Expanding the clinical spectrum 新的DES突变表现为孤立的限制性呼吸衰竭。扩大临床范围
IF 2.9 4区 医学
Neurologia Pub Date : 2025-06-01 DOI: 10.1016/j.nrl.2023.03.002
J. Alonso-Pérez , O. Barrachina-Esteve , L. González-Quereda , M.L. Viguera-Martinez , M. Luján-Torné , M. Guitart-Feliubadaló , J. Miguel Martínez , Á. Carbayo , P. Gallano , J. Díaz-Manera , M. Olivé , R. Rojas-Garcia
{"title":"Novel DES mutation presenting with isolated restrictive respiratory failure. Expanding the clinical spectrum","authors":"J. Alonso-Pérez ,&nbsp;O. Barrachina-Esteve ,&nbsp;L. González-Quereda ,&nbsp;M.L. Viguera-Martinez ,&nbsp;M. Luján-Torné ,&nbsp;M. Guitart-Feliubadaló ,&nbsp;J. Miguel Martínez ,&nbsp;Á. Carbayo ,&nbsp;P. Gallano ,&nbsp;J. Díaz-Manera ,&nbsp;M. Olivé ,&nbsp;R. Rojas-Garcia","doi":"10.1016/j.nrl.2023.03.002","DOIUrl":"10.1016/j.nrl.2023.03.002","url":null,"abstract":"<div><h3>Background</h3><div>Desminopathies are a clinically heterogeneous group of myopathies, with common histological findings in muscle biopsy. Clinically, they usually present with distal and/or proximal muscle weakness often associated with cardiomyopathy. We present 8 patients from 3 unrelated families manifesting isolated respiratory insufficiency without skeletal muscle weakness or heart disease, because of a mutation in the <em>DES</em> gene.</div></div><div><h3>Methods</h3><div>Clinical and demographic data were acquired from medical records. Muscle MRI studies were performed in 6 patients. A muscle biopsy study was performed in the index case from each family.</div></div><div><h3>Results</h3><div>Isolated restrictive respiratory dysfunction was observed in all symptomatic patients, with 2 requiring non-invasive ventilation. Three patients were asymptomatic at the time of the study. None of the patients presented skeletal muscle weakness or heart disease, even after 20 years of disease progression. Muscle MRI showed a common pattern with predominant involvement of the semitendinosus muscle. Muscle biopsy showed patches of cytoplasmic inclusions corresponding to desmin aggregates. The genetic study showed heterozygous presence of the p.Arg415Trp mutation in the <em>DES</em> gene in all patients.</div></div><div><h3>Conclusions</h3><div>We present 5 patients carrying a p.Arg415Trp mutation in the <em>DES</em> gene, manifesting as isolated restrictive respiratory insufficiency without associated skeletal muscle weakness or heart disease. These cases represent a new phenotype associated with <em>DES</em> mutations, thus suggesting that desminopathy should be considered in the diagnostic workup of patients presenting isolated respiratory failure.</div></div>","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 5","pages":"Pages 433-441"},"PeriodicalIF":2.9,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144239644","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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