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Consensus statement of the Spanish Society of Neurology on the treatment of multiple sclerosis and holistic patient management in 2023 西班牙神经病学学会关于 2023 年多发性硬化症治疗和患者整体管理的共识声明。
Neurologia Pub Date : 2024-03-01 DOI: 10.1016/j.nrleng.2024.01.003
J.E. Meca-Lallana , S. Martínez Yélamos , S. Eichau , M.Á. Llaneza , J. Martín Martínez , J. Peña Martínez , V. Meca Lallana , A.M. Alonso Torres , E. Moral Torres , J. Río , C. Calles , A. Ares Luque , L. Ramió-Torrentà , M.E. Marzo Sola , J.M. Prieto , M.L. Martínez Ginés , R. Arroyo , M.Á. Otano Martínez , L. Brieva Ruiz , M. Gómez Gutiérrez , C. Oreja-Guevara
{"title":"Consensus statement of the Spanish Society of Neurology on the treatment of multiple sclerosis and holistic patient management in 2023","authors":"J.E. Meca-Lallana ,&nbsp;S. Martínez Yélamos ,&nbsp;S. Eichau ,&nbsp;M.Á. Llaneza ,&nbsp;J. Martín Martínez ,&nbsp;J. Peña Martínez ,&nbsp;V. Meca Lallana ,&nbsp;A.M. Alonso Torres ,&nbsp;E. Moral Torres ,&nbsp;J. Río ,&nbsp;C. Calles ,&nbsp;A. Ares Luque ,&nbsp;L. Ramió-Torrentà ,&nbsp;M.E. Marzo Sola ,&nbsp;J.M. Prieto ,&nbsp;M.L. Martínez Ginés ,&nbsp;R. Arroyo ,&nbsp;M.Á. Otano Martínez ,&nbsp;L. Brieva Ruiz ,&nbsp;M. Gómez Gutiérrez ,&nbsp;C. Oreja-Guevara","doi":"10.1016/j.nrleng.2024.01.003","DOIUrl":"10.1016/j.nrleng.2024.01.003","url":null,"abstract":"<div><p>The last consensus statement of the Spanish Society of Neurology’s Demyelinating Diseases Study Group on the treatment of multiple sclerosis (MS) was issued in 2016. Although many of the positions taken remain valid, there have been significant changes in the management and treatment of MS, both due to the approval of new drugs with different action mechanisms and due to the evolution of previously fixed concepts. This has enabled new approaches to specific situations such as pregnancy and vaccination, and the inclusion of new variables in clinical decision-making, such as the early use of high-efficacy disease-modifying therapies (DMT), consideration of the patient’s perspective, and the use of such novel technologies as remote monitoring.</p><p>In the light of these changes, this updated consensus statement, developed according to the Delphi method, seeks to reflect the new paradigm in the management of patients with MS, based on the available scientific evidence and the clinical expertise of the participants.</p><p>The most significant recommendations are that immunomodulatory DMT be started in patients with radiologically isolated syndrome with persistent radiological activity, that patient perspectives be considered, and that the term “lines of therapy” no longer be used in the classification of DMTs (&gt; 90% consensus). Following diagnosis of MS, the first DMT should be selected according to the presence/absence of factors of poor prognosis (whether epidemiological, clinical, radiological, or biomarkers) for the occurrence of new relapses or progression of disability; high-efficacy DMTs may be considered from disease onset.</p></div>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"39 2","pages":"Pages 196-208"},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2173580824000191/pdfft?md5=3486490c52ce0f386b3bd1ab89ff01f1&pid=1-s2.0-S2173580824000191-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139492900","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Basilar web and basilar fenestration: a case report 基底膜网和基底膜开裂:病例报告。
Neurologia Pub Date : 2024-03-01 DOI: 10.1016/j.nrleng.2024.01.010
J.M. Fernández-Vidal , M. Guasch-Jiménez , I. Ruiz-Barrio , B. Gómez-Ansón , M. Tecame , J. Martí-Fàbregas
{"title":"Basilar web and basilar fenestration: a case report","authors":"J.M. Fernández-Vidal ,&nbsp;M. Guasch-Jiménez ,&nbsp;I. Ruiz-Barrio ,&nbsp;B. Gómez-Ansón ,&nbsp;M. Tecame ,&nbsp;J. Martí-Fàbregas","doi":"10.1016/j.nrleng.2024.01.010","DOIUrl":"10.1016/j.nrleng.2024.01.010","url":null,"abstract":"","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"39 2","pages":"Pages 209-210"},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2173580824000270/pdfft?md5=3b3c7f239cfde77a9fa49675407da144&pid=1-s2.0-S2173580824000270-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139673991","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Fatigue in patients with acquired brain damage 后天性脑损伤患者的疲劳。
Neurologia Pub Date : 2024-03-01 DOI: 10.1016/j.nrleng.2024.01.008
A. Juárez-Belaúnde , E. Orcajo , S. Lejarreta , P. Davila-Pérez , N. León , A. Oliviero
{"title":"Fatigue in patients with acquired brain damage","authors":"A. Juárez-Belaúnde ,&nbsp;E. Orcajo ,&nbsp;S. Lejarreta ,&nbsp;P. Davila-Pérez ,&nbsp;N. León ,&nbsp;A. Oliviero","doi":"10.1016/j.nrleng.2024.01.008","DOIUrl":"10.1016/j.nrleng.2024.01.008","url":null,"abstract":"<div><p>Fatigue is a complex, multidimensional syndrome that is prevalent in patients with acquired brain damage and has a negative impact on the neurorehabilitation process. It presents from early stages after the injury, and may persist over time, regardless of whether sequelae have resolved. Fatigue is conditioned by upper neuronal circuits, and is defined as an abnormal perception of overexertion. Its prevalence ranges from 29% to 77% after stroke, from 18% to 75% after traumatic brain injury, and from 47% to 97% after brain tumours. Fatigue is associated with factors including female sex, advanced age, dysfunctional families, history of specific health conditions, functional status (eg, fatigue prior to injury), comorbidities, mood, secondary disability, and the use of certain drugs. Assessment of fatigue is fundamentally based on such scales as the Fatigue Severity Scale (FSS). Advances have recently been made in imaging techniques for its diagnosis, such as in functional MRI. Regarding treatment, no specific pharmacological treatment currently exists; however, positive results have been reported for some conventional neurorehabilitation therapies, such as bright light therapy, neurofeedback, electrical stimulation, and transcranial magnetic stimulation. This review aims to assist neurorehabilitation professionals to recognise modifiable factors associated with fatigue and to describe the treatments available to reduce its negative effect on patients.</p></div>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"39 2","pages":"Pages 178-189"},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2173580824000245/pdfft?md5=e4fe402e9ee92c3e4127df31dc9c05ad&pid=1-s2.0-S2173580824000245-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139566999","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Spanish normative studies (NEURONORMA-Plus project): norms for the Delis Kaplan-Design Fluency Test, Color Trails Test, and Dual Task 西班牙标准研究(NEURONORMA-Plus 项目):德利斯-卡普兰设计流畅性测试、色彩轨迹测试和双重任务的标准
Neurologia Pub Date : 2024-03-01 DOI: 10.1016/j.nrleng.2021.05.013
G. García-Escobar , C. Pérez-Enríquez , C. Arrondo-Elizarán , B. Pereira-Cuitiño , L. Grau-Guinea , M. Florido-Santiago , J. Piqué-Candini , R.M. Manero , A. Puig-Pijoan , J. Peña-Casanova , G. Sánchez-Benavides
{"title":"Spanish normative studies (NEURONORMA-Plus project): norms for the Delis Kaplan-Design Fluency Test, Color Trails Test, and Dual Task","authors":"G. García-Escobar ,&nbsp;C. Pérez-Enríquez ,&nbsp;C. Arrondo-Elizarán ,&nbsp;B. Pereira-Cuitiño ,&nbsp;L. Grau-Guinea ,&nbsp;M. Florido-Santiago ,&nbsp;J. Piqué-Candini ,&nbsp;R.M. Manero ,&nbsp;A. Puig-Pijoan ,&nbsp;J. Peña-Casanova ,&nbsp;G. Sánchez-Benavides","doi":"10.1016/j.nrleng.2021.05.013","DOIUrl":"10.1016/j.nrleng.2021.05.013","url":null,"abstract":"<div><h3>Introduction</h3><p>Complex attention and non-verbal fluency tasks are used in neuropsychological assessments with the aim of exploring subdomains of executive function. The purpose of this study is to provide norms and age-, education-, and sex-adjusted data for the Delis Kaplan-Design Fluency Test (DK-DFT), Color Trails Test (CTT), and Dual Task (DT) as part of the NEURONORMA-Plus project.</p></div><div><h3>Methods</h3><p>The sample included 308 cognitively unimpaired individuals aged between 18 and 92 years. Raw scores were converted to age-adjusted scaled scores. These were further converted into education- and sex-adjusted scaled scores by applying linear regression, with 2 age groups (&lt; 50 and ≥ 50 years).</p></div><div><h3>Results</h3><p>Overall, age had a negative impact on DK-DFT and CTT performance. We observed a positive effect of education on DK-DFT scores only in the older group (≥ 50 years). Moreover, younger men performed slightly better in the basic condition of this test. Education was positively associated with all CTT scores in both age groups, with the exception of the CTT-1 subtest in the younger group. Age and education did not influence DT performance, whereas sex did, with young women performing slightly better.</p></div><div><h3>Conclusions</h3><p>These normative data may be useful in the interpretation of neuropsychological assessments in the Spanish population.</p></div>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"39 2","pages":"Pages 160-169"},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2173580823000470/pdfft?md5=09409ffc0675d2f753a79095724f40a7&pid=1-s2.0-S2173580823000470-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9931368","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Osmotic demyelination syndrome amidst COVID-19: A case report with literature review COVID-19中的渗透性脱髓鞘综合征:病例报告与文献综述
Neurologia Pub Date : 2024-03-01 DOI: 10.1016/j.nrleng.2023.11.001
G. Dimitrov , D. Naeva , R. Duparinova , S. Stratieva , V. Manev , K. Prinova
{"title":"Osmotic demyelination syndrome amidst COVID-19: A case report with literature review","authors":"G. Dimitrov ,&nbsp;D. Naeva ,&nbsp;R. Duparinova ,&nbsp;S. Stratieva ,&nbsp;V. Manev ,&nbsp;K. Prinova","doi":"10.1016/j.nrleng.2023.11.001","DOIUrl":"https://doi.org/10.1016/j.nrleng.2023.11.001","url":null,"abstract":"","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"39 2","pages":"Pages 213-217"},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2173580824000294/pdfft?md5=9275149de6890ce325febcfdee45091a&pid=1-s2.0-S2173580824000294-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140051877","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Theory of mind in neurodevelopmental disorders: beyond autistic spectrum disorder 神经发育障碍中的心智理论:超越自闭症谱系障碍。
Neurologia Pub Date : 2024-03-01 DOI: 10.1016/j.nrleng.2024.01.005
A. Pérez-Vigil , D. Ilzarbe , B. Garcia-Delgar , A. Morer , M. Pomares , O. Puig , S. Lera-Miguel , M. Rosa , M. Romero , R. Calvo Escalona , L. Lázaro
{"title":"Theory of mind in neurodevelopmental disorders: beyond autistic spectrum disorder","authors":"A. Pérez-Vigil ,&nbsp;D. Ilzarbe ,&nbsp;B. Garcia-Delgar ,&nbsp;A. Morer ,&nbsp;M. Pomares ,&nbsp;O. Puig ,&nbsp;S. Lera-Miguel ,&nbsp;M. Rosa ,&nbsp;M. Romero ,&nbsp;R. Calvo Escalona ,&nbsp;L. Lázaro","doi":"10.1016/j.nrleng.2024.01.005","DOIUrl":"10.1016/j.nrleng.2024.01.005","url":null,"abstract":"<div><h3>Introduction</h3><p>Theory of mind (ToM) is the human ability to perceive, interpret, and attribute the mental states of other people, and the alteration of this cognitive function is a core symptom of autistic spectrum disorder (ASD). In such other neurodevelopmental disorders as childhood-onset obsessive-compulsive disorder (OCD) and Tourette syndrome (TS) that can present with cognitive dysfunctions, ToM has been less extensively studied, especially in the young population. The aim of the study was to compare advanced ToM between groups of young people diagnosed with OCD, TS, or ASD and a control group.</p></div><div><h3>Methods</h3><p>Clinical interviews were conducted with male patients aged between 11 and 17 years with a main diagnosis of OCD (n = 19), TS (n = 14), or ASD (n = 18), and a control group (n = 20). We administered instruments for estimating intelligence quotient and severity of psychiatric symptoms, and tasks to evaluate ToM (the \"Stories from everyday life\" task and the \"Reading the mind in the eyes” test).</p></div><div><h3>Results</h3><p>Young people with TS and with ASD present similar difficulties in solving advanced ToM tasks, whereas patients with childhood-onset OCD present similar results to controls.</p></div><div><h3>Conclusions</h3><p>ToM is altered in other neurodevelopmental disorders beyond ASD, such as TS.</p></div>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"39 2","pages":"Pages 117-126"},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S217358082400021X/pdfft?md5=517afa6d5223152467181c7b7e48f553&pid=1-s2.0-S217358082400021X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139565368","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Benign episodic unilateral mydriasis: case report, topographic and clinical approach 良性发作性单侧眼球震颤;病例报告、地形图和临床方法。
Neurologia Pub Date : 2024-03-01 DOI: 10.1016/j.nrleng.2024.01.009
Valeria Valencia-Cifuentes , Jairo A. Quiñones
{"title":"Benign episodic unilateral mydriasis: case report, topographic and clinical approach","authors":"Valeria Valencia-Cifuentes ,&nbsp;Jairo A. Quiñones","doi":"10.1016/j.nrleng.2024.01.009","DOIUrl":"10.1016/j.nrleng.2024.01.009","url":null,"abstract":"","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"39 2","pages":"Pages 211-213"},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2173580824000269/pdfft?md5=3d82f39db8ce3d44d83e43a24206434c&pid=1-s2.0-S2173580824000269-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139682230","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","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 potential diagnostic accuracy of circulating microRNAs for Alzheimer's disease: A meta-analysis 循环微RNA对阿尔茨海默病的潜在诊断准确性:荟萃分析
Neurologia Pub Date : 2024-03-01 DOI: 10.1016/j.nrleng.2023.12.011
W.T. Zhang , G.X. Zhang , S.S. Gao
{"title":"The potential diagnostic accuracy of circulating microRNAs for Alzheimer's disease: A meta-analysis","authors":"W.T. Zhang ,&nbsp;G.X. Zhang ,&nbsp;S.S. Gao","doi":"10.1016/j.nrleng.2023.12.011","DOIUrl":"https://doi.org/10.1016/j.nrleng.2023.12.011","url":null,"abstract":"<div><h3>Background &amp; objective</h3><p>Alzheimer's disease (AD) is a progressive and irreversible neurodegenerative disease that seriously affects cognitive ability and has become a key public health problem. Many studies have identified the possibility of peripheral blood microRNA as effective non-invasive biomarkers for AD diagnosis, but the results are inconsistent. Therefore, we carried out this meta-analysis to evaluate the diagnostic accuracy of circulating microRNAs in the diagnosis of AD patients.</p></div><div><h3>Methods</h3><p>We performed a systematic literature search of the following databases: PubMed, EMBASE, Web of Science, Cochrane Library, Wanfang database and China National Knowledge Infrastructure, updated to March 15, 2021. A random effects model was used to pool the sensitivity, specificity, positive likelihood ratio, negative likelihood ratio, diagnostic odds ratio and area under the curve. Meta-regression and subgroup analysis were performed to explore the sources of heterogeneity, and Deeks’ funnel plot was used to assess whether there was publication bias.</p></div><div><h3>Results</h3><p>62 studies from 18 articles were included in this meta-analysis. The pooled sensitivity was 0.82 (95% CI: 0.78–0.85), specificity was 0.80 (95% CI: 0.76–0.83), PLR was 4. 1 (95% CI: 3.4–4.9), NLR was 0.23 (95% CI: 0.19–0.28), DOR was 18 (95% CI: 13–25) and AUC was 0.88 (95% CI: 0.84–0.90). Subgroup analysis shows that the microRNA clusters of plasma type performed a better diagnostic accuracy of AD patients. In addition, publication bias was not found.</p></div><div><h3>Conclusions</h3><p>Circulating microRNAs can be used as a promising non-invasive biomarker in AD diagnosis.</p></div>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"39 2","pages":"Pages 147-159"},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2173580823000792/pdfft?md5=43921deb7f655d4aa413c1b82556403d&pid=1-s2.0-S2173580823000792-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140051875","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Pseudotumor cerebri in the paediatric population: clinical features, treatment and prognosis 儿科假性脑瘤:临床特征、治疗和预后。
Neurologia Pub Date : 2024-03-01 DOI: 10.1016/j.nrleng.2024.01.004
F. Labella Álvarez , J.A. Fernández-Ramos , R. Camino León , E. Ibarra de la Rosa , E. López Laso
{"title":"Pseudotumor cerebri in the paediatric population: clinical features, treatment and prognosis","authors":"F. Labella Álvarez ,&nbsp;J.A. Fernández-Ramos ,&nbsp;R. Camino León ,&nbsp;E. Ibarra de la Rosa ,&nbsp;E. López Laso","doi":"10.1016/j.nrleng.2024.01.004","DOIUrl":"10.1016/j.nrleng.2024.01.004","url":null,"abstract":"<div><h3>Introduction</h3><p>Pseudotumor cerebri (PC) in prepubertal patients displays certain characteristics that differentiate it from its presentation at the postpubertal stage. The aim of this study is to describe the characteristics of paediatric patients diagnosed with PC at our centre and to compare them according to their pubertal status.</p></div><div><h3>Patients and methods</h3><p>We included patients aged between 1 and 18 years who were diagnosed with PC in a tertiary-level hospital between 2006 and 2019 and who met the updated diagnostic criteria for PC. They were classified according to body weight and pubertal status. Subsequently, we analysed results from lumbar punctures, neuroimaging studies, ophthalmological assessments, and treatments received during follow-up.</p></div><div><h3>Results</h3><p>We included 28 patients, of whom 22 were of prepubertal age and 6 were of postpubertal age. The mean age (standard deviation) was 9.04 (2.86) years. Among the postpubertal patients, 83.3% were boys, 66.7% of whom presented overweight/obesity. In the group of prepubertal patients, 27% were boys, 31.8% of whom were overweight. The most frequent symptoms were headache (89.9%) and blurred vision (42.9%). All patients presented papilloedema, and 21.4% manifested sixth nerve palsy. Possible triggers were identified in 28.6% of cases. Nineteen percent of patients presented clinical recurrence, all of whom were prepubertal patients. Complete clinical resolution was achieved in 55.6% of patients.</p></div><div><h3>Conclusion</h3><p>Prepubertal patients with PC show lower prevalence of obesity, higher prevalence of secondary aetiologies, and higher recurrence rates than postpubertal patients.</p></div>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"39 2","pages":"Pages 105-116"},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2173580824000208/pdfft?md5=4b7de80ab31a98235fed122f33c4271c&pid=1-s2.0-S2173580824000208-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139565364","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Clinical practice guidelines for the diagnosis and management of Charcot-Marie-Tooth disease. Charcot-Marie-Tooth 疾病诊断和管理临床实践指南。
Neurologia Pub Date : 2024-03-01 DOI: 10.1016/j.nrleng.2024.02.008
R Sivera Mascaró, T García Sobrino, A Horga Hernández, A L Pelayo Negro, A Alonso Jiménez, A Antelo Pose, M D Calabria Gallego, C Casasnovas, C A Cemillán Fernández, J Esteban Pérez, M Fenollar Cortés, M Frasquet Carrera, M P Gallano Petit, A Giménez Muñoz, G Gutiérrez Gutiérrez, A Gutiérrez Martínez, R Juntas Morales, N L Ciano-Petersen, P L Martínez Ulloa, S Mederer Hengstl, E Millet Sancho, F J Navacerrada Barrero, F E Navarrete Faubel, J Pardo Fernández, S I Pascual Pascual, J Pérez Lucas, J Pino Mínguez, M Rabasa Pérez, M Sánchez González, J Sotoca, B Rodríguez Santiago, R Rojas García, J Turon-Sans, V Vicent Carsí, T Sevilla Mantecón
{"title":"Clinical practice guidelines for the diagnosis and management of Charcot-Marie-Tooth disease.","authors":"R Sivera Mascaró, T García Sobrino, A Horga Hernández, A L Pelayo Negro, A Alonso Jiménez, A Antelo Pose, M D Calabria Gallego, C Casasnovas, C A Cemillán Fernández, J Esteban Pérez, M Fenollar Cortés, M Frasquet Carrera, M P Gallano Petit, A Giménez Muñoz, G Gutiérrez Gutiérrez, A Gutiérrez Martínez, R Juntas Morales, N L Ciano-Petersen, P L Martínez Ulloa, S Mederer Hengstl, E Millet Sancho, F J Navacerrada Barrero, F E Navarrete Faubel, J Pardo Fernández, S I Pascual Pascual, J Pérez Lucas, J Pino Mínguez, M Rabasa Pérez, M Sánchez González, J Sotoca, B Rodríguez Santiago, R Rojas García, J Turon-Sans, V Vicent Carsí, T Sevilla Mantecón","doi":"10.1016/j.nrleng.2024.02.008","DOIUrl":"10.1016/j.nrleng.2024.02.008","url":null,"abstract":"<p><strong>Introduction: </strong>Charcot-Marie-Tooth disease (CMT) is classified according to neurophysiological and histological findings, the inheritance pattern, and the underlying genetic defect. The objective of these guidelines is to offer recommendations for the diagnosis, prognosis, follow-up, and treatment of this disease in Spain.</p><p><strong>Material and methods: </strong>These consensus guidelines were developed through collaboration by a multidisciplinary panel encompassing a broad group of experts on the subject, including neurologists, paediatric neurologists, geneticists, physiatrists, and orthopaedic surgeons.</p><p><strong>Recommendations: </strong>The diagnosis of CMT is clinical, with patients usually presenting a common or classical phenotype. Clinical assessment should be followed by an appropriate neurophysiological study; specific recommendations are established for the parameters that should be included. Genetic diagnosis should be approached sequentially; once PMP22 duplication has been ruled out, if appropriate, a next-generation sequencing study should be considered, taking into account the limitations of the available techniques. To date, no pharmacological disease-modifying treatment is available, but symptomatic management, guided by a multidiciplinary team, is important, as is proper rehabilitation and orthopaedic management. The latter should be initiated early to identify and improve the patient's functional deficits, and should include individualised exercise guidelines, orthotic adaptation, and assessment of conservative surgeries such as tendon transfer. The follow-up of patients with CMT is exclusively clinical, and ancillary testing is not necessary in routine clinical practice.</p>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140023879","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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