Neurologia最新文献

{"title":"Mortalidad y recurrencia a largo plazo del ictus isquémico en adultos jóvenes en Aragón","authors":"H. Tejada-Meza ,&nbsp;A. Lambea-Gil ,&nbsp;B. Pardiñas-Barón ,&nbsp;D. Sagarra-Mur ,&nbsp;M. Viscasillas-Sancho ,&nbsp;C. Moreno-Loscertales ,&nbsp;C. Tejero-Juste ,&nbsp;C. Pérez-Lázaro ,&nbsp;J. Artal-Roy ,&nbsp;O. Alberti-González ,&nbsp;P. Ruiz-Palomino ,&nbsp;N. Hernando-Quintana ,&nbsp;I. Campello-Morer ,&nbsp;A. Giménez-Muñoz ,&nbsp;M. Palacín-Larroy ,&nbsp;C. García-Arguedas ,&nbsp;L. Ballester-Marco ,&nbsp;J. Marta-Moreno ,&nbsp;en representación del Grupo de Estudio de Enfermedades Neurovasculares de Aragón (GEENV-Aragón)","doi":"10.1016/j.nrl.2023.02.005","DOIUrl":"10.1016/j.nrl.2023.02.005","url":null,"abstract":"<div><h3>Introduction</h3><div>The incidence of ischemic stroke in young adults is increasing worldwide, and it is not uncommon in our region. It is associated with the presence of traditional vascular risk factors. However, there is little information about its prognosis, unlike other age groups. The objective of this study is to determine mortality, both in the short and long term follow-up, and the long-term follow-up recurrence of ischemic stroke in young adult patients in Aragon, making up the first study of this kind in Spain, and one of the few that addresses this issue in Europe.</div></div><div><h3>Methods</h3><div>Multicenter, observational, retrospective study of all patients between 18 and 50<!--> <!-->years old who were admitted for an ischemic stroke in any hospital in Aragon between 2005-2015. The follow-up was carried out until March 31, 2021. Mortality, causes of death and recurrence of cerebrovascular events were collected, stratifying the sample based on the sex and age group of the patients. Logistic and Cox regression models were used to determine the factors associated with mortality and recurrence.</div></div><div><h3>Results</h3><div>721 patients were included (697 with long-term follow-up). Mortality was 3.3% in the first 30<!--> <!-->days. Long-term mortality and recurrence was 9.2% and 11.9% at a median of 10.1<!--> <!-->years of follow-up. The most frequent cause of death in the short term was of neurovascular origin and in the long term was cancer. Having a NIHSS &gt;<!--> <!-->15 was associated with higher short-term mortality. Arterial hypertension, diabetes mellitus, excessive alcohol consumption, atrial fibrillation and peripheral vascular disease were associated with long-term mortality. A history of previous stroke, diabetes mellitus, and atherothrombotic etiology were associated with a higher cumulative risk of stroke recurrence.</div></div><div><h3>Conclusions</h3><div>Mortality and recurrence of ischemic stroke in young adults in Aragon, although lower than that described by other studies, is by no means negligible and is associated with the presence of traditional vascular risk factors.</div></div>","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 4","pages":"Pages 333-343"},"PeriodicalIF":2.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143870256","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}

{"title":"Complejidad de las interconsultas hospitalarias neuro-oncológicas: estudio multicéntrico","authors":"C. Jauregui Larrañaga ,&nbsp;M. Villagrán-García ,&nbsp;J. Cabello Murgui ,&nbsp;M.I. Barceló Artigues ,&nbsp;E. Bargay Pizarro ,&nbsp;M.C. Gil Alzueta ,&nbsp;I. Esparragosa Vázquez ,&nbsp;L. Bataller Alberola ,&nbsp;R. Velasco Fargas ,&nbsp;M.E. Erro Aguirre","doi":"10.1016/j.nrl.2023.09.004","DOIUrl":"10.1016/j.nrl.2023.09.004","url":null,"abstract":"<div><h3>Introduction</h3><div>The oncologic patient may require the evaluation by neurologist when they are admitted at hospital. The aim of our study was to determine the frequency and characteristics of hospital interconsultations (ICh) received by the neurology department concerning oncology patients admitted to the hospital.</div></div><div><h3>Material and methods</h3><div>A retrospective multicentre study analyzing ICh to neurology concerning onco-hematological patients admitted during five consecutive years (2016-2020) in four tertiary hospitals in Spain was carried out.</div></div><div><h3>Results</h3><div>A total of 2.091 ICh from 1.710 patients were analysed, most of them male (55.5%; 969/2,091) with a median age of 60.5<!--> <!-->years (range 15-92). Most of the ICh came from medical oncology (43.2%; 904/2,091) and hematology (42.2%; 882/2,091) departments. Neuro-oncological ICh accounted for approximately 17% (2,091/12,242) of the total number of ICh performed in the neurology department during the five years included in this study. The most frequent reasons for consultation were limb motor deficit (18.3%; 381/2,077), confusional syndrome (14.1%; 292/2,077), epileptic seizures (12.2%; 254/2,077) and headache (8.1%; 169/2,077). The most frequent associated tumors were lung cancer (18.3%; 383/2,089), leukemia (19%; 396/2,089), lymphoma (17.1%; 357/2,089) and primary brain tumor (12.1%; 353/2,089). The majority (69.9%; 1,460/2,089) of patients were undergoing active or recent cancer treatment. Final neurological diagnoses included metabolic encephalopathy (11.2%; 234/2,091), tumor progression (11%; 231/2,091), cerebral vascular complications (10.1%; 212/2,091), metastases (9.1%; 191/2,091) and leptomeningeal dissemination (8.9%; 186/2,091). 15.4% (323/2,091) of the IChs were closed with an undetermined diagnosis. The median time that the ICh required to be open was 3<!--> <!-->days (range 1-152).</div></div><div><h3>Conclusions</h3><div>The ICh of onco-haematological patients are heterogeneous, with an increasing incidence and complexity, requiring management by neurologists with experience in neuro-oncological patient.</div></div>","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 4","pages":"Pages 372-379"},"PeriodicalIF":2.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143870856","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}

{"title":"Calidad de vida y salud mental en el ictus juvenil","authors":"D. Alonso Modino ,&nbsp;L. Perestelo Pérez ,&nbsp;F.M. Rosa González ,&nbsp;A. Toledo Chavarri ,&nbsp;C. Valcarcel Nazco ,&nbsp;F.I. Montón Álvarez","doi":"10.1016/j.nrl.2022.11.006","DOIUrl":"10.1016/j.nrl.2022.11.006","url":null,"abstract":"<div><h3>Introduction</h3><div>Stroke has a significant impact on mental health and health-related quality of life (HRQoL); these aspects have not been sufficiently studied in young stroke.</div></div><div><h3>Objectives</h3><div>To evaluate HRQoL, mental health, and the relationship between these variables and the incorporation of young adults into working life after stroke.</div></div><div><h3>Material and methods</h3><div>We conducted a prospective descriptive study of patients with JS between 2016 and 2017, using such questionnaires and scales as EuroQol-5D, the 36-item Short Form Health Survey, National Institutes of Health Stroke Scale (NIHSS), modified Rankin Scale (mRS), 12-item General Health Questionnaire, Hamilton Anxiety and Depression Rating Scales, and BURQOL-meter; tests were administered at 2 interviews, held 6 and 12 months after stroke.</div></div><div><h3>Results</h3><div>We analysed 41 patients, with a mean age of 41.8 years. At one year, the mean NIHSS score was 0.54 and mRS score was 0-2 in 95.1%. No differences were observed over time in quality of life or mental health scales. Prevalence rates for depression and anxiety at one year were 46.3% and 41.5%, respectively. Male sex and active employment were associated with better HRQoL. A total of 41.5% of patients were in work at one year after the stroke. Statistically significant associations were observed between quality of life, mental health, and incorporation into working life.</div></div><div><h3>Conclusions</h3><div>Young stroke affects HRQoL, and patients are at high risk of anxiety and depression, underdiagnosed and undertreated disorders that affect quality of life and the return to work, which decreases after stroke in young adults.</div></div>","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 3","pages":"Pages 229-238"},"PeriodicalIF":2.9,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43675963","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}

{"title":"Distonía lingual: respuesta al tratamiento con toxina botulínica","authors":"A. Fernández Revuelta,&nbsp;E. López Valdés,&nbsp;R. García-Ramos","doi":"10.1016/j.nrl.2023.08.001","DOIUrl":"10.1016/j.nrl.2023.08.001","url":null,"abstract":"","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 3","pages":"Pages 331-332"},"PeriodicalIF":2.9,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139812419","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}

{"title":"Alemtuzumab y síndrome poliglandular autoinmune con diabetes mellitus tipo 1","authors":"D.A. García Estévez ,&nbsp;I. Pinal Osorio ,&nbsp;A. Pato Pato","doi":"10.1016/j.nrl.2023.07.001","DOIUrl":"10.1016/j.nrl.2023.07.001","url":null,"abstract":"","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 3","pages":"Pages 329-330"},"PeriodicalIF":2.9,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139822435","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}

{"title":"Características clínicas del dolor de miembro fantasma en pacientes con amputación de miembro inferior en una población española","authors":"M. Rubiera Valdés ,&nbsp;O. Gutiérrez Remis ,&nbsp;A. González Jáimez ,&nbsp;C. Manzaneque Rodríguez ,&nbsp;V. Chiminazzo ,&nbsp;G. Morís","doi":"10.1016/j.nrl.2023.06.013","DOIUrl":"10.1016/j.nrl.2023.06.013","url":null,"abstract":"<div><h3>Introduction</h3><div>The aim of this research is to present the clinical characteristics of Phantom Limb Pain (PLP) in patients with amputation.</div></div><div><h3>Material</h3><div>A retrospective cross-sectional observational study of patients with lower limb amputation is presented. Patients between 18 and 80 years of age with unilateral or bilateral amputation between the years 2015 and 2019 were included. Demographic data, medical history, data related to the amputation, and related abnormal sensations were collected.</div></div><div><h3>Results</h3><div>43 patients (34 men) and 53 amputees were studied, with a mean age of 62 years, with a time elapsed since amputation of 28 months. The most frequent cause of amputation was ischemic (70%). Twenty-three (60%) patients had PLP that began 1 month after amputation with a mean intensity of 3.9 on the VAS scale, in 15 patients the PLP was daily, three patients recognized the disappearance of PLP. 91% of the patients presented non-painful sensations in relation to the phantom limb. No differences were found in the development of the PLP between the 1st and 2nd amputation. A significant association was found between the development of PLP and residual limb pain.</div></div><div><h3>Conclusions</h3><div>PLP is a prevalent pathology among amputee patients, therefore multidisciplinary care with an active neurologic participation is essential. Studies are needed to deepen the knowledge of the factors that favour the development of PLP in order to focus early and targeted therapies to prevent the appearance of PLP.</div></div>","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 3","pages":"Pages 279-289"},"PeriodicalIF":2.9,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143680825","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}

{"title":"Molecular dynamics of amyloid-β transport in Alzheimer's disease: Exploring therapeutic plasma exchange with albumin replacement – Current insights and future perspectives","authors":"R. Mondal ,&nbsp;S. Deb ,&nbsp;G. Shome ,&nbsp;V. Sarkar ,&nbsp;D. Lahiri ,&nbsp;S.S. Datta ,&nbsp;J. Benito-León","doi":"10.1016/j.nrl.2023.11.005","DOIUrl":"10.1016/j.nrl.2023.11.005","url":null,"abstract":"<div><h3>Introduction</h3><div>The complex process of amyloid-β (Aβ) transportation across the blood–brain and blood–cerebrospinal fluid barriers is crucial for preventing Aβ accumulation, which linked to dementia and neurodegeneration. This review explores therapeutic plasma exchange with albumin replacement in Alzheimer's disease, based on the dynamics of amyloid-β between the brain, plasma, and cerebrospinal fluid.</div></div><div><h3>Methodology</h3><div>A comprehensive literature review was conducted using PubMed/Medline, Cochrane Library, and open databases (bioRxiv, MedRixv, preprint.org) up to April 30, 2023. The first search utilized the following MeSH terms and keywords: ‘Plasma Exchange’, ‘Plasmapheresis’, ‘Therapeutic plasma exchange’, ‘Apheresis’, ‘Aβ’, ‘p-tau’, ‘Total-tau’, ‘Alzheimer's disease’, ‘Cognitive dysfunction’, ‘neurodegenerative diseases’, ‘centrifugation’, ‘membranous’, and ‘filtration’ in the Title/Abstract, yielding 146 results. A second search with the keywords: ‘Albumin’, ‘Aβ’, ‘BBB’, ‘Alzheimer's dementia’, and ‘Nerve degeneration’ resulted in 125 additional articles for analysis. Finally, a third search using keywords: ‘Albumin structural domains’, ‘Albumin-Aβ interactions’, ‘Albumin-endothelial interactions’, and ‘Post-Translational Modification’ produced 193 results for further review.</div></div><div><h3>Results/Discussion</h3><div>Therapeutic plasma exchange shows potential as a disease-modifying therapy for dementia, specifically for Alzheimer's disease. Additionally, the promising role of albumin supplementation in cognitive improvement has attracted attention. However, clinical evidence supporting therapeutic plasma exchange for dementia remains limited, necessitating further research and development to mitigate potential adverse effects. A deeper understanding of the molecular dynamics of Aβ transportation and the mechanisms of therapeutic plasma exchange is essential. A critical evaluation of existing evidence highlights the importance of balancing potential benefits with associated risks, which will guide the development and application of these treatments in neurodegenerative diseases.</div></div>","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 3","pages":"Pages 306-328"},"PeriodicalIF":2.9,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143680720","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}

{"title":"Grado de conocimiento de los pacientes con migraña sobre su tratamiento preventivo oral: resultados de un estudio nacional","authors":"A. López-Bravo ,&nbsp;S. Quintas ,&nbsp;A. Mínguez-Olaondo ,&nbsp;A. Alpuente ,&nbsp;C. Nieves-Castellanos ,&nbsp;M. Pilar Navarro-Pérez ,&nbsp;S. Pérez-Pereda ,&nbsp;A. Layos Romero ,&nbsp;C. Calle de Miguel ,&nbsp;D. García-Azorín ,&nbsp;M. Torres-Ferrús ,&nbsp;S. Santos-Lasaosa","doi":"10.1016/j.nrl.2022.11.008","DOIUrl":"10.1016/j.nrl.2022.11.008","url":null,"abstract":"<div><h3>Background</h3><div>Patients’ knowledge about their medications is key to guarantee therapeutic compliance in chronic diseases.</div></div><div><h3>Aims of the Study</h3><div>To determine patients’ knowledge of oral preventive treatment (OPT) in migraine.</div></div><div><h3>Methods</h3><div>This is a cross-sectional study evaluating knowledge of medication with a validated questionnaire that assessed: therapeutic objective, process of use, safety and conservation.</div></div><div><h3>Results</h3><div>198 patients were included. Mean age was 45.4<!--> <!-->±<!--> <!-->11.5 years-old and 92.4% were women. A 61.1% of migraine patients did not know the medication they used, 55.1% showed insufficient knowledge and 6.1% had no knowledge. The most known dimension was “conservation” (80.3%) and the most unknown dimension of was safety (33.7%). In this regard, 82.3% considered that they should not take precautions when taking the treatment, 80.3% stated that it had no contraindications and 82.8% were unaware of possible interactions with other medications. Worse knowledge about OPT was associated with longer time since migraine onset (<em>p</em> <!-->=<!--> <!-->.049), higher scores on the Hospital Anxiety and Depression Scale (<em>p</em> <!-->=<!--> <!-->.021), less qualified jobs (<em>p</em> <!-->=<!--> <!-->.045), use of monotherapy (<em>p</em> <!-->=<!--> <!-->.001) and longer periods since OPT initiation (<em>p</em> <!-->=<!--> <!-->.013).</div></div><div><h3>Conclusions</h3><div>The majority of migraine patients did not adequately know their preventive treatment, despite identifying some of the items related to their medication. The present study shows that knowledge of patients about their preventive treatment should be evaluated in clinical practice and could help migraine patients in the correct use of OPT.</div></div>","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 3","pages":"Pages 249-255"},"PeriodicalIF":2.9,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143680745","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}

{"title":"Reliable change indices for 16 neuropsychological tests at six different time points","authors":"O. Sáez-Atxukarro ,&nbsp;J. Peña ,&nbsp;R. del Pino ,&nbsp;N. Ibarretxe-Bilbao ,&nbsp;N. Ojeda","doi":"10.1016/j.nrl.2023.06.004","DOIUrl":"10.1016/j.nrl.2023.06.004","url":null,"abstract":"<div><h3>Introduction</h3><div>Neuropsychological assessment often involves repeated testing in order to assess a cognitive change or conduct a longitudinal follow-up study of a patient. To assess whether the change between assessments is relevant or not, longitudinal reference data are needed. The aim of this study is to provide reference data to enable interpretation of score changes between assessments for 16 commonly used tests, at six different time intervals between successive assessments, using five reliable change indices.</div></div><div><h3>Methods</h3><div>The study is part of the Normacog project, in which 388 healthy participants recruited in Spain (aged 18–84 years) were assessed on two occasions. A baseline assessment was carried out, and then followed up at 1 month (<em>n</em> <!-->=<!--> <!-->67), 3 months (<em>n</em> <!-->=<!--> <!-->64), 6 months (<em>n</em> <!-->=<!--> <!-->59), 9 months (<em>n</em> <!-->=<!--> <!-->60), 12 months (<em>n</em> <!-->=<!--> <!-->68), or 24 months (<em>n</em> <!-->=<!--> <!-->70). Longitudinal data were analyzed, and reliable change indices were calculated.</div></div><div><h3>Results</h3><div>A significant improvement was observed between assessment scores for all time points, especially in memory-related variables. Reference data are provided using the following indices: discrepancy scores expressed in percentiles, standard deviation index (SDI), reliable change index (RCI), RCI<!--> <!-->+<!--> <!-->practice effect (RCI<!--> <!-->+<!--> <!-->PE), and standardized regression-based formulae.</div></div><div><h3>Conclusions</h3><div>This study provides data to analyze whether or not a cognitive change can be considered reliable. The results support the use of these reliable change indices to avoid biases related to successive assessments. This study will lay the foundations for the implementation of these tools in clinical practice, and will be a reference for the creation of reliable change indices.</div></div>","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 3","pages":"Pages 256-278"},"PeriodicalIF":2.9,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140775434","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}

{"title":"Guía práctica de diagnóstico y manejo en la enfermedad de Charcot-Marie-Tooth en España","authors":"R. Sivera Mascaró ,&nbsp;T. García Sobrino ,&nbsp;A. Horga Hernández ,&nbsp;A.L. Pelayo Negro ,&nbsp;A. Alonso Jiménez ,&nbsp;A. Antelo Pose ,&nbsp;M.D. Calabria Gallego ,&nbsp;C. Casasnovas ,&nbsp;C.A. Cemillán Fernández ,&nbsp;J. Esteban Pérez ,&nbsp;M. Fenollar Cortés ,&nbsp;M. Frasquet Carrera ,&nbsp;M.P. Gallano Petit ,&nbsp;A. Giménez Muñoz ,&nbsp;G. Gutiérrez Gutiérrez ,&nbsp;A. Gutiérrez Martínez ,&nbsp;R. Juntas Morales ,&nbsp;N.L. Ciano-Petersen ,&nbsp;P.L. Martínez Ulloa ,&nbsp;S. Mederer Hengstl ,&nbsp;T. Sevilla Mantecón","doi":"10.1016/j.nrl.2023.11.004","DOIUrl":"10.1016/j.nrl.2023.11.004","url":null,"abstract":"<div><h3>Introduction</h3><div>Charcot-Marie-Tooth (CMT) disease is classified considering the neurophysiological and histological findings, the inheritance pattern and the underlying genetic defect. In recent years, with the advent of next generation sequencing, genetic complexity has increased exponentially, expanding the knowledge about disease pathways, and having an impact in clinical management. The aim of this guide is to offer recommendations for the diagnosis, prognosis, monitoring and treatment of this disease in Spain.</div></div><div><h3>Material and methods</h3><div>This consensus guideline has been developed by a multidisciplinary panel encompassing a broad group of professionals including neurologists, neuropediatricians, geneticists, rehabilitators, and orthopedic surgeons.</div></div><div><h3>Recommendations</h3><div>The diagnosis is based in the clinical characterization, usually presenting with a common phenotype. It should be followed by an appropriate neurophysiological study that allows for a correct classification, specific recommendations are established for the parameters that should be included. Genetic diagnosis must be approached in sequentially, once the <em>PMP22</em> duplication has been ruled out if appropriate, a next generation sequencing should be considered taking into account the limitations of the available techniques. To date, there is no pharmacological treatment that modifies the course of the disease, but symptomatic management is important, as are the rehabilitation and orthopedic considerations. The latter should be initiated early to identify and improve the patient's functional impairments, including individualized exercise guidelines, orthotic adaptation, and assessment of conservative surgeries such as tendon transpositions. The follow-up of patients with CMT is exclusively clinical, ancillary testing are not necessary in routine clinical practice.</div></div>","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 3","pages":"Pages 290-305"},"PeriodicalIF":2.9,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143680719","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}