NeurologiaPub Date : 2025-03-20DOI: 10.1016/j.nrl.2023.11.004
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 , T. Sevilla Mantecón
{"title":"Guía práctica de diagnóstico y manejo en la enfermedad de Charcot-Marie-Tooth en España","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 , 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":"2025-03-20","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}
NeurologiaPub Date : 2025-03-01DOI: 10.1016/j.nrl.2022.10.001
U. Gómez-Pinedo , L. Torre-Fuentes , J.A. Matías-Guiu , V. Pytel , D.D. Ojeda-Hernández , B. Selma-Calvo , P. Montero-Escribano , L. Vidorreta-Ballesteros , J. Matías-Guiu
{"title":"Exonic variants of the P2RX7 gene in familial multiple sclerosis","authors":"U. Gómez-Pinedo , L. Torre-Fuentes , J.A. Matías-Guiu , V. Pytel , D.D. Ojeda-Hernández , B. Selma-Calvo , P. Montero-Escribano , L. Vidorreta-Ballesteros , J. Matías-Guiu","doi":"10.1016/j.nrl.2022.10.001","DOIUrl":"10.1016/j.nrl.2022.10.001","url":null,"abstract":"<div><h3>Introduction</h3><div>Several studies have analysed the presence of <em>P2RX7</em> variants in patients with MS, reporting diverging results.</div></div><div><h3>Methods</h3><div>Our study analyses <em>P2RX7</em> variants detected through whole-exome sequencing (WES).</div></div><div><h3>Results</h3><div>We analysed <em>P2RX7</em>, <em>P2RX4</em>, and <em>CAMKK2</em> gene variants detected by whole-exome sequencing in all living members (n = 127) of 21 families including at least 2 individuals with multiple sclerosis. <em>P2RX7</em> gene polymorphisms previously associated with autoimmune disease. Although no differences were observed between individuals with and without multiple sclerosis, we found greater polymorphism of gain-of-function variants of <em>P2RX7</em> in families with individuals with multiple sclerosis than in the general population. Copresence of gain-of-function and loss-of-function variants was not observed to reduce the risk of presenting the disease. Three families displayed heterozygous gain-of-function SNPs in patients with multiple sclerosis but not in healthy individuals. We were unable to determine the impact of copresence of <em>P2RX4</em> and <em>CAMKK2</em> variants with <em>P2RX7</em> variants, or the potential effect of the different haplotypes described in the gene. No clinical correlations with other autoimmune diseases were observed in our cohort.</div></div><div><h3>Conclusions</h3><div>Our results support the hypothesis that the disease is polygenic and point to a previously unknown mechanism of genetic predisposition to familial forms of multiple sclerosis. <em>P2RX7</em> gene activity can be modified, which suggests the possibility of preventive pharmacological treatments for families including patients with familial multiple sclerosis.</div></div>","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 2","pages":"Pages 150-160"},"PeriodicalIF":2.9,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143548479","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}
NeurologiaPub Date : 2025-03-01DOI: 10.1016/j.nrl.2023.05.003
A. Barragán-Prieto , S. Pérez-Sánchez , M. Castellanos , A. González , J. Montaner
{"title":"Estudio de la situación actual del Teleictus en España","authors":"A. Barragán-Prieto , S. Pérez-Sánchez , M. Castellanos , A. González , J. Montaner","doi":"10.1016/j.nrl.2023.05.003","DOIUrl":"10.1016/j.nrl.2023.05.003","url":null,"abstract":"<div><h3>Introduction</h3><div>In recent years, Telestroke programmes have been established as a fundamental tool for extending acute stroke care to hospitals that lack an on-call neurology service. The main objective of this study is to describe the existence and functioning of the different Telestroke systems and networks (TS) in Spain.</div></div><div><h3>Method</h3><div>We conducted a cross-sectional study to analyse the current situation of TS in Spain using a structured survey distributed among the members of the Stroke Study Group of the Spanish Society of Neurology.</div></div><div><h3>Results</h3><div>Responses were received from 12 of the 17 Spanish autonomous communities, of which 10 had implemented TS. In addition, a literature search revealed that 2 other systems were in operation. Twelve of the 17 regions in the country have TS, achieving coverage of at least 20% of the Spanish population. Of these 10 TS, organisation was regional in 7, provincial in 2, and hospital-based in one. Most TS (9) included at least simple CT and angio-CT studies; 4 also included perfusion imaging. Nine TS operated with professional videoconferencing equipment. However, the suboptimal quality of examination via videoconferencing scan was the main problem identified in 50% of TS. Other problems detected are difficulty obtaining data from registries and the transfer of images between hospitals.</div></div><div><h3>Conclusion</h3><div>In recent years, a significant expansion of TS has taken place in Spain, which has improved the accessibility of specialised care in patients with symptoms of acute stroke. This study allows us to describe the different types of TS in Spain and to detect areas for improvement and expansion, and could contribute to defining regional telestroke implementation strategies to offer quality care to the whole population.</div></div>","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 2","pages":"Pages 182-190"},"PeriodicalIF":2.9,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44375680","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}
NeurologiaPub Date : 2025-03-01DOI: 10.1016/j.nrl.2023.09.001
M. Gómez-Eguílaz , S. López-Alava , J.L. Ramón-Trapero , F. Castillo-Álvarez , N. Gómez Loizaga , C. García-Penco , N. Boukichou-Abdelkader , L. Pérez-Martínez
{"title":"Profundizando en la fatiga del síndrome post-COVID","authors":"M. Gómez-Eguílaz , S. López-Alava , J.L. Ramón-Trapero , F. Castillo-Álvarez , N. Gómez Loizaga , C. García-Penco , N. Boukichou-Abdelkader , L. Pérez-Martínez","doi":"10.1016/j.nrl.2023.09.001","DOIUrl":"10.1016/j.nrl.2023.09.001","url":null,"abstract":"<div><h3>Introduction</h3><div>More than 100 million people have been infected worldwide by the SARS-CoV-2 virus, which is responsible for an acute disease called COVID-19. Multiple studies have shown how various symptoms in these patients can persist for several months after resolution of the acute process, known as post-COVID syndrome. The neurological clinic is varied, but with constant presentation of fatigue.</div></div><div><h3>Objective</h3><div>Analyze post-COVID fatigue.</div></div><div><h3>Methods</h3><div>We present a single-center, prospective, case-control study comparing patients with fatigue in the context of a post-COVID syndrome with patients who have passed COVID-19 without post-COVID fatigue. A baseline record (April 2021) and a control record at 6<!--> <!-->months were made. Clinical variables, fatigue questionnaires, sleep disorders, depression, anxiety, cognitive impairment and quality of life are recorded. Basic analyzes of the two visits are collected. In addition, a substudy of inflammatory (IL-6, IL-1β, TNF-α) and anti-inflammatory (IL-10) cytokines is performed.</div></div><div><h3>Results</h3><div>The fatigue of the patients measured by Chadler is of moderate and mixed intensity (physical and psychological). At 6<!--> <!-->months, physical fatigue improves, but psychological fatigue does not. Significant differences were found in sleepiness, cognitive deterioration, anxiety and quality of life. Significant alterations are evident of TNF-α values, but not in the rest of the cytokines.</div></div><div><h3>Conclusions</h3><div>Patients with fatigue have a poorer quality of life, with improvement in control being observed at 6<!--> <!-->months, which suggests a course that could be self-limiting, but this will have to be confirmed with longer studies.</div></div>","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 2","pages":"Pages 204-215"},"PeriodicalIF":2.9,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143548480","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}
NeurologiaPub Date : 2025-03-01DOI: 10.1016/j.nrl.2022.11.004
A.R. Ramos-Molina , A.R. Tejeda-Martínez , J.M. Viveros-Paredes , V. Chaparro-Huerta , M.F. Urmeneta-Ortíz , L.J. Ramírez-Jirano , M.E. Flores-Soto
{"title":"Beta-caryophyllene inhibits the permeability of the blood–brain barrier in MPTP-induced parkinsonism","authors":"A.R. Ramos-Molina , A.R. Tejeda-Martínez , J.M. Viveros-Paredes , V. Chaparro-Huerta , M.F. Urmeneta-Ortíz , L.J. Ramírez-Jirano , M.E. Flores-Soto","doi":"10.1016/j.nrl.2022.11.004","DOIUrl":"10.1016/j.nrl.2022.11.004","url":null,"abstract":"<div><h3>Introduction</h3><div>Parkinson's disease (PD) is the second most prevalent neurodegenerative disorder worldwide. Although the precise pathogenesis of PD remains unclear, several studies demonstrate that oxidative stress, inflammation, low levels of antioxidants, and the presence of biomolecules that generate reactive oxygen species can disrupt the blood–brain barrier (BBB) as an essential feature of the disease.</div></div><div><h3>Aims</h3><div>This study aimed to test whether agonism to cannabinoid receptor type 2 (CB2) through the administration of β-caryophyllene (BCP) could correct BBB permeability in the 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) parkinsonism induction model.</div></div><div><h3>Methods</h3><div>We conducted a molecular assessment of proteins (immunochemistry and western blot), BBB permeability, and related biomarkers of PD (lipid peroxidation) in the MPTP mouse model of the disease.</div></div><div><h3>Results</h3><div>Expression of zonula occludens (ZO-1) and occludin tight junction (TJ) proteins was dampened in the striatum and substantia nigra pars compacta of mice, while lipid peroxidation and BBB permeability increased in the striatum in the MPTP-treated group, and these effects were reversed under BCP administration. This phytocannabinoid was able to restore protein expression and immunoreactivity of tyrosine hydroxylase (TH), ionized calcium-binding adapter molecule 1 (Iba-1), and glial fibrillary acidic protein (GFAP), as well as nuclear factor-erythroid 2-related factor (NRF2) translocation to the nucleus, and NADPH quinone oxidase 1 (NQO1) expression in mice treated with MPTP.</div></div><div><h3>Conclusion</h3><div>These results highlight the role of CB2 as a therapeutic target for PD, suggesting that its activation may ameliorate PD-related BBB disruption and oxidative stress, reducing the selective death of dopaminergic neurons.</div></div>","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 2","pages":"Pages 191-203"},"PeriodicalIF":2.9,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41563456","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}
NeurologiaPub Date : 2025-03-01DOI: 10.1016/j.nrl.2023.02.003
C. Guijarro-Castro , L. Estallo-Guijarro
{"title":"Síndrome de opsoclono-mioclono y cáncer de próstata. Una entidad a tener en cuenta","authors":"C. Guijarro-Castro , L. Estallo-Guijarro","doi":"10.1016/j.nrl.2023.02.003","DOIUrl":"10.1016/j.nrl.2023.02.003","url":null,"abstract":"","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 2","pages":"Pages 216-217"},"PeriodicalIF":2.9,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139888115","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}
NeurologiaPub Date : 2025-03-01DOI: 10.1016/j.nrl.2023.04.002
D. Santos García , J. Pagonabarraga Mora , F. Escamilla Sevilla , P.J. García Ruiz , J. Infante Ceberio , J. Kulisevsky Bojarski , G. Linazasoro Cristóbal , M.R. Luquín Piudo , J.C. Martínez Castrillo , S. Jesús Maestre , L. Vela Desojo , F.J. Campos Lucas , F. Caballero Martínez , P. Mir , Panel of Experts Phase 1
{"title":"Dopamine agonist therapy in Parkinson’s disease: Spanish expert consensus on its use in different clinical situations","authors":"D. Santos García , J. Pagonabarraga Mora , F. Escamilla Sevilla , P.J. García Ruiz , J. Infante Ceberio , J. Kulisevsky Bojarski , G. Linazasoro Cristóbal , M.R. Luquín Piudo , J.C. Martínez Castrillo , S. Jesús Maestre , L. Vela Desojo , F.J. Campos Lucas , F. Caballero Martínez , P. Mir , Panel of Experts Phase 1","doi":"10.1016/j.nrl.2023.04.002","DOIUrl":"10.1016/j.nrl.2023.04.002","url":null,"abstract":"<div><h3>Background</h3><div>Different types of therapies were proven effective for the medical management of motor and non-motor symptoms in Parkinson’s disease (PD). We aimed to gain consensus on the dopamine agonist (DA) therapy use in different clinical scenarios of Parkinson’s disease (PD) patients.</div></div><div><h3>Methods</h3><div>This consensus study was based on the nominal group technique. Initially, a consensus group comprising 12 expert neurologists in the PD field identified the topics to be addressed and elaborated different evidence-based preliminary statements. Next, a panel of 48 Spanish neurologists expressed their opinion on an internet-based systematic voting program. Finally, initial ideas were reviewed and rewritten according to panel contribution and were ranked by the consensus group using a Likert-type scale. The analysis of data was carried out by using a combination of both qualitative and quantitative methods. The consensus was achieved if the statement reached ≥ 3.5 points in the voting process.</div></div><div><h3>Results</h3><div>The consensus group produced 76 real-world recommendations. The topics addressed included 12 statements related to DA therapy in early PD, 20 statements concerning DA treatment strategy in patients with motor complications, 11 statements associated with DA drugs and their side effects, and 33 statements regarding DA therapy in specific clinical scenarios. The consensus group did not reach a consensus on 15 statements.</div></div><div><h3>Conclusion</h3><div>The findings from this consensus method represent an exploratory step to help clinicians and patients in the appropriate use of DA in different stages and clinical situations of PD.</div></div>","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 2","pages":"Pages 171-181"},"PeriodicalIF":2.9,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143548367","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}
NeurologiaPub Date : 2025-03-01DOI: 10.1016/j.nrl.2022.09.007
J. Tejada García , L.L. Lezama , R. de la Fuente Blanco , A. Pérez de Prado , L. Benavente Fernández , M. Rico Santos , M.D. Fernández Couto , L. Naya Ríos , I. Couso Pazó , P.V. Alba , L. Redondo-Robles , L. López Mesonero , S. Arias-Rivas , M. Santamaría Cadavid , H. Tejada Meza , L. Horna Cañete , I. Azkune Calle , A. Pinedo Brochado , J.M. García Sánchez , I. Caballero Romero , M. Martínez Zabaleta
{"title":"Selección de pacientes para cierre percutáneo en el ictus isquémico no lacunar criptogénico asociado a foramen oval permeable. Datos del registro cooperativo NORDICTUS","authors":"J. Tejada García , L.L. Lezama , R. de la Fuente Blanco , A. Pérez de Prado , L. Benavente Fernández , M. Rico Santos , M.D. Fernández Couto , L. Naya Ríos , I. Couso Pazó , P.V. Alba , L. Redondo-Robles , L. López Mesonero , S. Arias-Rivas , M. Santamaría Cadavid , H. Tejada Meza , L. Horna Cañete , I. Azkune Calle , A. Pinedo Brochado , J.M. García Sánchez , I. Caballero Romero , M. Martínez Zabaleta","doi":"10.1016/j.nrl.2022.09.007","DOIUrl":"10.1016/j.nrl.2022.09.007","url":null,"abstract":"<div><h3>Introduction</h3><div>There is an extending use of percutaneous closure of patent foramen ovale (PFO) as therapy for PFO-associated cryptogenic strokes. The aim of our study was to investigate the clinical practice of percutaneous closure of PFO and to analyse the variables for decision-making on the selection of patients for this procedure.</div></div><div><h3>Method</h3><div>A prospective observational multicentric survey was conducted using all the cases of cryptogenic stroke/transient ischemic attack associated with PFO recorded in the NORDICTUS hospital registry during the period 2018-2021. Clinical data, radiological patterns, echocardiogram data and factors related to PFO-associated stroke (thromboembolic disease and paradoxical embolism criteria) were recorded. The indication for closure was analysed according to age (≤/<!--> <!-->> 60 years) and the characteristics of the PFO.</div></div><div><h3>Results</h3><div>In the group ≤60 years (n<!--> <!-->=<!--> <!-->488), 143 patients (29.3%) underwent PFO closure. The most influential variables for this therapy were detection of a high-risk PFO (OR 4,11; IC 2,6-6,5, p<<!--> <!-->0,001), criteria for paradoxical embolism (OR 2,61; IC 1,28-5,28; p<!--> <!-->=<!--> <!-->0,008) and previous use of antithrombotics (OR 2,67; IC 1,38-5,18; p<!--> <!-->=<!--> <!-->0,009). In the group<!--> <!-->>60 years old (n<!--> <!-->=<!--> <!-->124), 24 patients had PFO closure (19%). The variables related to this option were history of pulmonary thromboembolism, predisposition to thromboembolic disease, paradoxical embolism criteria and high-risk PFO.</div></div><div><h3>Conclusions</h3><div>The detection of a high-risk PFO (large shunt, shunt with associated aneurysm) is the main criterion for a percutaneous closure-based therapy. Other conditions to consider in the eligibility of patients are the history of thromboembolic disease, paradoxical embolism criteria or the previous use of antithrombotics.</div></div>","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 2","pages":"Pages 139-149"},"PeriodicalIF":2.9,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49273719","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}
NeurologiaPub Date : 2025-03-01DOI: 10.1016/j.nrl.2023.02.004
J. Martín Prieto , E. García-Serrano Fuertes , J. Iglesias Bermejillo , A. Luna Rodríguez
{"title":"Mutaciones en el gen del colágeno tipo IV (COL4A1) como etiología infrecuente de enfermedad cerebrovascular en el adulto joven","authors":"J. Martín Prieto , E. García-Serrano Fuertes , J. Iglesias Bermejillo , A. Luna Rodríguez","doi":"10.1016/j.nrl.2023.02.004","DOIUrl":"10.1016/j.nrl.2023.02.004","url":null,"abstract":"","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 2","pages":"Pages 217-220"},"PeriodicalIF":2.9,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139889007","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}
NeurologiaPub Date : 2025-03-01DOI: 10.1016/j.nrl.2023.05.002
C. García-Muñoz , J.C. Hernández-Rodríguez , J.J. Pereyra-Rodriguez
{"title":"Mortality rates for Parkinson’s disease are increasing in Spain. An age-period-cohort and joinpoint analysis of mortality rates from 1981 to 2020","authors":"C. García-Muñoz , J.C. Hernández-Rodríguez , J.J. Pereyra-Rodriguez","doi":"10.1016/j.nrl.2023.05.002","DOIUrl":"10.1016/j.nrl.2023.05.002","url":null,"abstract":"<div><h3>Background</h3><div>Mortality in Parkinson’s disease is increasing worldwide, but Spanish data need further study.</div></div><div><h3>Objective</h3><div>To analyse the mortality trends of Parkinson’s disease in Spain between 1981 and 2020.</div></div><div><h3>Methods</h3><div>This observational retrospective study assessed the Parkinson’s disease mortality data from 1981 to 2020 collected from the National Statistics Institute of Spain. Age-standardised mortality rates were analysed by age and sex groups, detecting significant mortality trends through a joinpoint analysis. Age-period-cohort effect and potential years of life lost analyses were conducted. The European standard population of 2013 was considered for the analyses.</div></div><div><h3>Results</h3><div>A total of 88 034 deaths were assessed. The overall age-standardised mortality rate rose throughout the period from 3.67 to 8.57 per 100 000 inhabitants. Mortality rates in men were higher than in women, 11.63 versus 6.57 deaths per 100 000 inhabitants. The sex ratio showed an increase in premature mortality in men during 2020. The overall joinpoint analysis recorded a rise in mortality, primarily since the 20th century, mainly in male and older groups, that matched with a period effect. The age effect was detected, confirming higher mortality at an older age. The analysis of potential years of life lost detected a growth in this rate, changing from 0.66 in 1981 to 1.06 in 2020.</div></div><div><h3>Conclusions</h3><div>Mortality data for Parkinson’s disease in Spain rose significantly in forty years. Mortality rate was higher in the male and age group above 75 years of age. The sex ratio showed premature mortality in men in 2020, which will need further study.</div></div>","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 2","pages":"Pages 161-170"},"PeriodicalIF":2.9,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143548366","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}