Pub Date : 2024-03-01DOI: 10.1016/j.nrleng.2024.01.008
A. Juárez-Belaúnde , E. Orcajo , S. Lejarreta , P. Davila-Pérez , N. León , A. Oliviero
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.
{"title":"Fatigue in patients with acquired brain damage","authors":"A. Juárez-Belaúnde , E. Orcajo , S. Lejarreta , P. Davila-Pérez , N. León , 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}
Pub Date : 2024-03-01DOI: 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
Introduction
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.
Methods
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 (< 50 and ≥ 50 years).
Results
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.
Conclusions
These normative data may be useful in the interpretation of neuropsychological assessments in the Spanish population.
{"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 , 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","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 (< 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}
Pub Date : 2024-03-01DOI: 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
Introduction
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.
Methods
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).
Results
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.
Conclusions
ToM is altered in other neurodevelopmental disorders beyond ASD, such as TS.
{"title":"Theory of mind in neurodevelopmental disorders: beyond autistic spectrum disorder","authors":"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","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}
Pub Date : 2024-03-01DOI: 10.1016/j.nrleng.2023.12.011
W.T. Zhang , G.X. Zhang , S.S. Gao
Background & objective
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.
Methods
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.
Results
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.
Conclusions
Circulating microRNAs can be used as a promising non-invasive biomarker in AD diagnosis.
{"title":"The potential diagnostic accuracy of circulating microRNAs for Alzheimer's disease: A meta-analysis","authors":"W.T. Zhang , G.X. Zhang , 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 & 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}
Pub Date : 2024-03-01DOI: 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
Introduction
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.
Patients and methods
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.
Results
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.
Conclusion
Prepubertal patients with PC show lower prevalence of obesity, higher prevalence of secondary aetiologies, and higher recurrence rates than postpubertal patients.
导言:青春期前的假性脑瘤(PC)患者表现出与青春期后不同的某些特征。本研究旨在描述本中心确诊的假性脑瘤儿科患者的特征,并根据患者的青春期状况对其进行比较:我们纳入了 2006 年至 2019 年期间在一家三级医院确诊为 PC 的 1 至 18 岁患者,他们均符合 PC 的最新诊断标准。我们根据体重和青春期状况对他们进行了分类。随后,我们分析了腰椎穿刺、神经影像学研究、眼科评估结果以及随访期间接受的治疗:结果:我们共纳入了 28 名患者,其中 22 人为青春期前年龄,6 人为青春期后年龄。平均年龄(标准差)为 9.04(2.86)岁。在青春期后的患者中,83.3%为男孩,其中66.7%表现为超重/肥胖。在青春期前的患者中,27%为男孩,其中31.8%超重。最常见的症状是头痛(89.9%)和视力模糊(42.9%)。所有患者均出现乳头水肿,21.4%表现为第六神经麻痹。28.6%的病例找到了可能的诱发因素。19%的患者出现临床复发,他们都是青春期前的患者。55.6%的患者临床症状完全消失:结论:与青春期后的患者相比,青春期前的 PC 患者肥胖发生率较低,继发病因发生率较高,复发率较高。
{"title":"Pseudotumor cerebri in the paediatric population: clinical features, treatment and prognosis","authors":"F. Labella Álvarez , J.A. Fernández-Ramos , R. Camino León , E. Ibarra de la Rosa , 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}
Pub Date : 2024-03-01DOI: 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
Introduction: 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.
Material and methods: 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.
Recommendations: 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.
{"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}
Pub Date : 2024-02-29DOI: 10.1016/j.nrleng.2024.02.009
J García-Ull, N González-García, M Torres-Ferrús, D García-Azorín, I F J Molina-Martínez, I Beltrán-Blasco, S Santos-Lasaosa, G Latorre, A B Gago-Veiga, J M Láinez, J Porta-Etessam, C Nieves-Castellanos, A Mínguez-Olaondo, A López-Bravo, S Quintas, N Morollón, S Díaz-Insa, R Belvís, P Irimia
Primary intracranial pressure disorders include idiopathic intracranial hypertension and spontaneous intracranial hypotension. Remarkable advances have been made in the diagnosis and treatment of these 2entities in recent years. Therefore, the Spanish Society of Neurology's Headache Study Group (GECSEN) deemed it necessary to prepare this consensus statement, including diagnostic and therapeutic algorithms to facilitate and improve the management of these disorders in clinical practice. This document was created by a committee of experts belonging to GECSEN, and is based on a systematic review of the literature, incorporating the experience of the participants, and establishes practical recommendations with levels of evidence and grades of recommendation.
{"title":"Diagnosis and treatment of disorders of intracranial pressure: consensus statement of the Spanish Society of Neurology's Headache Study Group.","authors":"J García-Ull, N González-García, M Torres-Ferrús, D García-Azorín, I F J Molina-Martínez, I Beltrán-Blasco, S Santos-Lasaosa, G Latorre, A B Gago-Veiga, J M Láinez, J Porta-Etessam, C Nieves-Castellanos, A Mínguez-Olaondo, A López-Bravo, S Quintas, N Morollón, S Díaz-Insa, R Belvís, P Irimia","doi":"10.1016/j.nrleng.2024.02.009","DOIUrl":"10.1016/j.nrleng.2024.02.009","url":null,"abstract":"<p><p>Primary intracranial pressure disorders include idiopathic intracranial hypertension and spontaneous intracranial hypotension. Remarkable advances have been made in the diagnosis and treatment of these 2entities in recent years. Therefore, the Spanish Society of Neurology's Headache Study Group (GECSEN) deemed it necessary to prepare this consensus statement, including diagnostic and therapeutic algorithms to facilitate and improve the management of these disorders in clinical practice. This document was created by a committee of experts belonging to GECSEN, and is based on a systematic review of the literature, incorporating the experience of the participants, and establishes practical recommendations with levels of evidence and grades of recommendation.</p>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140023880","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}