Neurologia最新文献

英文中文

Alemtuzumab and autoimmune polyglandular syndrome with type 1 diabetes mellitus 阿仑妥珠单抗与伴有1型糖尿病的自身免疫性多腺综合征。

Neurologia

Pub Date : 2025-04-01 DOI: 10.1016/j.nrleng.2024.02.006

D.A. García Estévez , I. Pinal Osorio , A. Pato Pato

引用次数: 0

Binocular diplopia: a retrospective study of 204 cases

Neurologia

Pub Date : 2025-04-01 DOI: 10.1016/j.nrleng.2025.03.001

M. Saint-Gerons , M.A. Rubio , A. Matheu

Objective

To describe the prevalence and form of onset of different causes of binocular diplopia in our setting.

Methods

We conducted a single-centre, cross-sectional, retrospective study reviewing the medical records of all patients visiting a tertiary-level centre between May 2019 and June 2021 with binocular diplopia as the main symptom. All patients underwent a complete neuro-ophthalmological evaluation and complementary tests for the aetiological diagnosis of diplopia. Data were collected on demographic variables, ocular deviation pattern, complementary test results, and diagnosis.

Results

A total of 204 patients with binocular diplopia were identified during the study period. The most frequent causes of diplopia overall were fourth nerve palsy (19.12%), sixth nerve palsy (14.71%), decompensated strabismus (14.22%), sagging eye syndrome (12.25%), third nerve palsy (10.78%), myasthenia (7.35%), supranuclear disorders (6.37%), and myopic esotropia (5.88%). Presentation was acute (less than 2 weeks’ progression) in 51% of cases. The most frequent causes of acute-onset diplopia were sixth nerve palsy (27.88%), third nerve palsy (21.15%), fourth nerve palsy (19.23%), supranuclear disorders (12.5%), and decompensated strabismus (6.73%). The most frequent causes of subacute/chronic presentation (more than 2 weeks) were decompensated strabismus (22%), sagging eye syndrome (22%), fourth nerve palsy (19%), myopic esotropia (12%), and myasthenia (11%).

Conclusions

The most frequent aetiology of diplopia in our environment was fourth nerve palsy, followed by sixth nerve palsy, decompensated strabismus, and sagging eye syndrome. Knowing the frequency of each cause of diplopia can help prioritise neuroimaging studies in each case.

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引用次数: 0

Endovascular treatment of vertebrobasilar ischaemic stroke in Aragon: clinical and radiological characteristics, management times, and prognosis at 3 months 阿拉贡椎基底动脉缺血性中风的血管内治疗：临床和放射学特征、治疗时间和 3 个月后的预后。

Neurologia

Pub Date : 2025-04-01 DOI: 10.1016/j.nrleng.2025.03.004

I. Saldaña-Inda , H. Tejada-Meza , B. Domínguez-Lagranja , M.R. Barrena-Caballo , A. Sancho-Saldaña , M. Serrano-Ponz , J. Marta-Moreno

Introduction

Posterior circulation stroke accounts for 15% to 20% of ischaemic strokes, but is associated with poor functional and vital prognosis in over 60% of cases. Due to its clinical and radiological peculiarities, diagnosis and management are more complex than in anterior circulation stroke. This study analyses and characterises patients with vertebrobasilar strokes treated with mechanical thrombectomy in our region.

Methods

We conducted a descriptive, retrospective analysis of patients with vertebrobasilar stroke and treated with mechanical thrombectomy at our centre, a reference centre for cerebrovascular emergencies for the region of Aragon. We recorded baseline characteristics, risk factors, signs and symptoms at onset, radiological assessment scale scores, procedure-related variables, management times, and functional prognosis at 3 months.

Results

We selected 37 patients (39.5% women; mean age [standard deviation], 68.34 [14.1] years). Cardioembolic stroke (42.1%) was the most common aetiology, followed by atherothrombosis (28.9%). The top of the basilar artery was the most common site of obstruction (55.3%). The most frequent clinical features were somnolence (76.3%), motor deficits (71.1%), and nausea (55.3%). Successful reperfusion (mTICI ≥ 2b) was achieved in 81.1% of patients. Functional outcome at 90 days was poor (mRS < 3) in 59% of patients.

Conclusions

Posterior circulation stroke is associated with high rates of morbidity and mortality. Its subacute, nonspecific clinical course prolongs management times and hinders early detection. Mechanical thrombectomy is a safe and effective procedure, although further studies are needed to establish the optimal patient profile.

{"title":"Endovascular treatment of vertebrobasilar ischaemic stroke in Aragon: clinical and radiological characteristics, management times, and prognosis at 3 months","authors":"I. Saldaña-Inda , H. Tejada-Meza , B. Domínguez-Lagranja , M.R. Barrena-Caballo , A. Sancho-Saldaña , M. Serrano-Ponz , J. Marta-Moreno","doi":"10.1016/j.nrleng.2025.03.004","DOIUrl":"10.1016/j.nrleng.2025.03.004","url":null,"abstract":"<div><h3>Introduction</h3><div>Posterior circulation stroke accounts for 15% to 20% of ischaemic strokes, but is associated with poor functional and vital prognosis in over 60% of cases. Due to its clinical and radiological peculiarities, diagnosis and management are more complex than in anterior circulation stroke. This study analyses and characterises patients with vertebrobasilar strokes treated with mechanical thrombectomy in our region.</div></div><div><h3>Methods</h3><div>We conducted a descriptive, retrospective analysis of patients with vertebrobasilar stroke and treated with mechanical thrombectomy at our centre, a reference centre for cerebrovascular emergencies for the region of Aragon. We recorded baseline characteristics, risk factors, signs and symptoms at onset, radiological assessment scale scores, procedure-related variables, management times, and functional prognosis at 3 months.</div></div><div><h3>Results</h3><div>We selected 37 patients (39.5% women; mean age [standard deviation], 68.34 [14.1] years). Cardioembolic stroke (42.1%) was the most common aetiology, followed by atherothrombosis (28.9%). The top of the basilar artery was the most common site of obstruction (55.3%). The most frequent clinical features were somnolence (76.3%), motor deficits (71.1%), and nausea (55.3%). Successful reperfusion (mTICI ≥ 2b) was achieved in 81.1% of patients. Functional outcome at 90 days was poor (mRS < 3) in 59% of patients.</div></div><div><h3>Conclusions</h3><div>Posterior circulation stroke is associated with high rates of morbidity and mortality. Its subacute, nonspecific clinical course prolongs management times and hinders early detection. Mechanical thrombectomy is a safe and effective procedure, although further studies are needed to establish the optimal patient profile.</div></div>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"40 3","pages":"Pages 239-248"},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143675110","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}

引用次数: 0

Clinical features of phantom limb pain in patients with lower limb amputation in a Spanish population

Neurologia

Pub Date : 2025-04-01 DOI: 10.1016/j.nrleng.2025.03.002

M. Rubiera Valdés , O. Gutiérrez Remis , A. González Jáimez , C. Manzaneque Rodríguez , V. Chiminazzo , G. Morís

Objectives

The aim of this research is to present the clinical characteristics of phantom limb pain (PLP) in patients with amputation.

Methods

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.

Results

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 recognised 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.

Conclusions

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.

{"title":"Clinical features of phantom limb pain in patients with lower limb amputation in a Spanish population","authors":"M. Rubiera Valdés , O. Gutiérrez Remis , A. González Jáimez , C. Manzaneque Rodríguez , V. Chiminazzo , G. Morís","doi":"10.1016/j.nrleng.2025.03.002","DOIUrl":"10.1016/j.nrleng.2025.03.002","url":null,"abstract":"<div><h3>Objectives</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>Methods</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 recognised 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":94155,"journal":{"name":"Neurologia","volume":"40 3","pages":"Pages 279-289"},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143675109","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}

引用次数: 0

Quality of life and mental health in young strokes

Neurologia

Pub Date : 2025-04-01 DOI: 10.1016/j.nrleng.2025.03.003

D. Alonso Modino , L. Perestelo Pérez , F.M. Rosa González , A. Toledo Chavarri , C. Valcarcel Nazco , F.I. Montón Álvarez

Introduction

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.

Objectives

To evaluate HRQoL, mental health, and the relationship between these variables and the incorporation of young adults into working life after stroke.

Material and methods

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.

Results

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.

Conclusions

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.

{"title":"Quality of life and mental health in young strokes","authors":"D. Alonso Modino , L. Perestelo Pérez , F.M. Rosa González , A. Toledo Chavarri , C. Valcarcel Nazco , F.I. Montón Álvarez","doi":"10.1016/j.nrleng.2025.03.003","DOIUrl":"10.1016/j.nrleng.2025.03.003","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":94155,"journal":{"name":"Neurologia","volume":"40 3","pages":"Pages 229-238"},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143675044","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}

引用次数: 0

Knowledge about oral preventive treatments in patients with migraine: A nationwide study

Neurologia

Pub Date : 2025-04-01 DOI: 10.1016/j.nrleng.2025.03.006

A. López-Bravo , S. Quintas , A. Mínguez-Olaondo , A. Alpuente , C. Nieves-Castellanos , M. Pilar Navarro-Pérez , S. Pérez-Pereda , A. Layos Romero , C. Calle de Miguel , D. García-Azorín , M. Torres-Ferrús , S. Santos-Lasaosa

Background

Patients’ knowledge about their medications is key to guarantee therapeutic compliance in chronic diseases.

Aims of the study

To determine patients’ knowledge of oral preventive treatment (OPT) in migraine.

Methods

This is a cross-sectional study evaluating knowledge of medication with a validated questionnaire that assessed: therapeutic objective, process of use, safety and conservation.

Results

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 (p = .049), higher scores on the Hospital Anxiety and Depression Scale (p = .021), less qualified jobs (p = .045), use of monotherapy (p = .001) and longer periods since OPT initiation (p = .013).

Conclusions

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.

{"title":"Knowledge about oral preventive treatments in patients with migraine: A nationwide study","authors":"A. López-Bravo , S. Quintas , A. Mínguez-Olaondo , A. Alpuente , C. Nieves-Castellanos , M. Pilar Navarro-Pérez , S. Pérez-Pereda , A. Layos Romero , C. Calle de Miguel , D. García-Azorín , M. Torres-Ferrús , S. Santos-Lasaosa","doi":"10.1016/j.nrleng.2025.03.006","DOIUrl":"10.1016/j.nrleng.2025.03.006","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":94155,"journal":{"name":"Neurologia","volume":"40 3","pages":"Pages 249-255"},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143675112","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}

引用次数: 0

Lingual dystonia: response to botulinum toxin treatment 舌肌张力障碍：对肉毒杆菌毒素治疗的反应

Neurologia

Pub Date : 2025-04-01 DOI: 10.1016/j.nrleng.2025.03.005

A. Fernández Revuelta, E. López Valdés, R. García-Ramos

引用次数: 0

Reliable change indices for 16 neuropsychological tests at six different time points

Neurologia

Pub Date : 2025-04-01 DOI: 10.1016/j.nrleng.2025.03.007

O. Sáez-Atxukarro , J. Peña , R. del Pino , N. Ibarretxe-Bilbao , N. Ojeda

Introduction

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.

Methods

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 (n = 67), 3 months (n = 64), 6 months (n = 59), 9 months (n = 60), 12 months (n = 68), or 24 months (n = 70). Longitudinal data were analyzed, and reliable change indices were calculated.

Results

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.

Conclusions

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.

{"title":"Reliable change indices for 16 neuropsychological tests at six different time points","authors":"O. Sáez-Atxukarro , J. Peña , R. del Pino , N. Ibarretxe-Bilbao , N. Ojeda","doi":"10.1016/j.nrleng.2025.03.007","DOIUrl":"10.1016/j.nrleng.2025.03.007","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>  =64), 6 months (<em>n</em>  =60), 12 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":94155,"journal":{"name":"Neurologia","volume":"40 3","pages":"Pages 256-278"},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143859905","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}

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 : 2025-04-01 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 , 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.

简介Charcot-Marie-Tooth (CMT) 病是根据神经生理学和组织学检查结果、遗传模式和潜在基因缺陷进行分类的。近年来，随着新一代测序技术的出现，遗传复杂性呈指数级增长，扩大了对疾病路径的了解，并对临床管理产生了影响。本指南旨在为西班牙该疾病的诊断、预后、监测和治疗提供建议：本共识指南由一个多学科小组制定，小组成员包括神经科医生、神经儿科医生、遗传学家、康复师和矫形外科医生等众多专业人士：诊断以临床特征为基础，通常表现为共同的表型。随后应进行适当的神经生理学研究，以便进行正确的分类，并就应包括的参数提出具体建议。基因诊断必须按顺序进行，一旦排除了 PMP22 复制，就应考虑进行下一代测序，同时考虑到现有技术的局限性。迄今为止，还没有药物治疗方法可以改变疾病的进程，但对症治疗以及康复和矫形方面的考虑都很重要。后者应及早开始，以识别并改善患者的功能障碍，包括个体化的锻炼指南、矫形器适应以及对肌腱转位等保守手术的评估。CMT 患者的随访完全是临床随访，在常规临床实践中无需进行辅助检查。

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引用次数: 0

Molecular dynamics of amyloid-β transport in Alzheimer's disease: Exploring therapeutic plasma exchange with albumin replacement – Current insights and future perspectives

Neurologia

Pub Date : 2025-04-01 DOI: 10.1016/j.nrleng.2025.03.008

R. Mondal , S. Deb , G. Shome , V. Sarkar , D. Lahiri , S.S. Datta , J. Benito-León

Introduction

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.

Methodology

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.

Results/Discussion

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.

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