Pub Date : 2025-09-01DOI: 10.1016/j.nrleng.2025.07.007
P. Carbonell-Corvillo , E. Rivas , M. Cabrera , A. García-Redondo , A. Fernández , C. Paradas
Introduction
Muscle MRI and electrophysiological exercise testing have been reported as useful techniques in hypokalemic periodic paralysis (HypoPP). Striking clinical differences between men and women with this disorder are well known; however, little information is available on complementary tests in the asymptomatic population.
Methods
We recruited 11 individuals with HypoPP from 4 independent families, carrying the frequent p.R528H mutation in the calcium channel gene CACNA1S; the sample included 8 symptomatic men and 3 asymptomatic women, together with 9 controls recruited from the same families. Muscle MRI and electrophysiological long exercise test results were evaluated in this homogeneous cohort.
Results
Muscle MRI showed a consistent pattern of atrophy and fatty infiltration mainly involving posterior compartment muscles of the thigh, with first involvement of the adductor magnus and semimembranosus, both in symptomatic and all the asymptomatic carriers, associated with age. The long exercise test showed a delayed decrement in compound muscle action potential amplitude and area in all carriers, regardless of the symptoms, with results becoming 100% sensitive after 35 min.
Conclusions
Our findings redefine the exercise test and muscle imaging findings in HypoPP due to the p.R528H CACNA1S mutation, with a particular focus on asymptomatic carriers, who displayed the same alterations as those described in symptomatic patients, thus highlighting their value as screening tools.
{"title":"Redefining periodic paralysis with CACNA1S mutation in a Spanish cohort","authors":"P. Carbonell-Corvillo , E. Rivas , M. Cabrera , A. García-Redondo , A. Fernández , C. Paradas","doi":"10.1016/j.nrleng.2025.07.007","DOIUrl":"10.1016/j.nrleng.2025.07.007","url":null,"abstract":"<div><h3>Introduction</h3><div>Muscle MRI and electrophysiological exercise testing have been reported as useful techniques in hypokalemic periodic paralysis (HypoPP). Striking clinical differences between men and women with this disorder are well known; however, little information is available on complementary tests in the asymptomatic population.</div></div><div><h3>Methods</h3><div>We recruited 11 individuals with HypoPP from 4 independent families, carrying the frequent p.R528H mutation in the calcium channel gene <em>CACNA1S</em>; the sample included 8 symptomatic men and 3 asymptomatic women, together with 9 controls recruited from the same families. Muscle MRI and electrophysiological long exercise test results were evaluated in this homogeneous cohort.</div></div><div><h3>Results</h3><div>Muscle MRI showed a consistent pattern of atrophy and fatty infiltration mainly involving posterior compartment muscles of the thigh, with first involvement of the adductor magnus and semimembranosus, both in symptomatic and all the asymptomatic carriers, associated with age. The long exercise test showed a delayed decrement in compound muscle action potential amplitude and area in all carriers, regardless of the symptoms, with results becoming 100% sensitive after 35<!--> <!-->min.</div></div><div><h3>Conclusions</h3><div>Our findings redefine the exercise test and muscle imaging findings in HypoPP due to the p.R528H <em>CACNA1S</em> mutation, with a particular focus on asymptomatic carriers, who displayed the same alterations as those described in symptomatic patients, thus highlighting their value as screening tools.</div></div>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"40 7","pages":"Pages 630-640"},"PeriodicalIF":0.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144922237","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 : 2025-09-01DOI: 10.1016/j.nrleng.2025.07.002
M. Torrente , M. Pino , J. Peña-Casanova
Introduction
The assessment of activities of daily living (ADL) is considered essential in the evaluation of mild cognitive impairment (MCI), dementia and for its correct differential diagnosis. There are many scales for the functional assessment of these entities, although they are not exempt from drawbacks. The Barcelona Test ADL scale was published in 2019 with the aim of having a retrogenetic instrument that could overcome most of the problems encountered by its predecessors.
Method
A study was carried out to evaluate the properties of this scale. A total sample of 68 subjects (healthy controls, patients with amnestic-type MCI, and patients with Alzheimer's-type dementia) stratified according to the Global Cognitive Impairment Scale -Global Deterioration Scale- completed with the Functional Assessment Staging- Scale (GDS-FAST). The scores of each group on the scale, as well as on other cognitive tests, were studied to obtain the descriptive and internal consistency, concurrent validity, and discriminative capacity indices.
Results
The scale means differed significantly between all stratification groups. A high internal consistency index was obtained (Cronbach’s α 0.975), excellent concurrent validity (Spearman’s ρ of 0.95) and very good discriminative capacity, especially between the GDS-FAST 3 and 4 groups, and the GDS-FAST 4 and 5 groups.
Conclusions
The Barcelona Test ADL scale allows adequately evaluating the retrogenetic functional level of patients and discriminating between the different phases of the GDS-FAST, positioning itself as a very complete and useful scale in our sociocultural environment.
{"title":"Development and concurrent validation of a retrogenetic instrument for the assessment of activities of daily living: the functional assessment scale of the Barcelona test","authors":"M. Torrente , M. Pino , J. Peña-Casanova","doi":"10.1016/j.nrleng.2025.07.002","DOIUrl":"10.1016/j.nrleng.2025.07.002","url":null,"abstract":"<div><h3>Introduction</h3><div>The assessment of activities of daily living (ADL) is considered essential in the evaluation of mild cognitive impairment (MCI), dementia and for its correct differential diagnosis. There are many scales for the functional assessment of these entities, although they are not exempt from drawbacks. The Barcelona Test ADL scale was published in 2019 with the aim of having a retrogenetic instrument that could overcome most of the problems encountered by its predecessors.</div></div><div><h3>Method</h3><div>A study was carried out to evaluate the properties of this scale. A total sample of 68 subjects (healthy controls, patients with amnestic-type MCI, and patients with Alzheimer's-type dementia) stratified according to the Global Cognitive Impairment Scale -Global Deterioration Scale- completed with the Functional Assessment Staging- Scale (GDS-FAST). The scores of each group on the scale, as well as on other cognitive tests, were studied to obtain the descriptive and internal consistency, concurrent validity, and discriminative capacity indices.</div></div><div><h3>Results</h3><div>The scale means differed significantly between all stratification groups. A high internal consistency index was obtained (Cronbach’s α 0.975), excellent concurrent validity (Spearman’s ρ of 0.95) and very good discriminative capacity, especially between the GDS-FAST 3 and 4 groups, and the GDS-FAST 4 and 5 groups.</div></div><div><h3>Conclusions</h3><div>The Barcelona Test ADL scale allows adequately evaluating the retrogenetic functional level of patients and discriminating between the different phases of the GDS-FAST, positioning itself as a very complete and useful scale in our sociocultural environment.</div></div>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"40 7","pages":"Pages 651-660"},"PeriodicalIF":0.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144669209","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 : 2025-09-01DOI: 10.1016/j.nrleng.2025.07.004
M. Suárez-Calvet , C. Abdelnour , D. Alcolea , M. Mendióroz-Iriarte , M. Balasa , E. Morenas-Rodríguez , A. Puig-Pijoan , P. Sánchez-Juan , A. Villarejo , R. Sánchez-Valle , por el Grupo de trabajo en biomarcadores en sangre del Grupo de Estudio de Conducta y Demencias de la Sociedad Española de Neurología
Introduction
The development of blood biomarkers for detecting Alzheimer's disease (AD) represents one of the most significant recent advances, and some are already available for clinical practice. Therefore, the Grupo de Estudio de Conducta y Demencias de la Sociedad Española de Neurología has formed a working group to review the current status and develop consensus recommendations for their clinical implementation.
Development
This document was prepared by neurologists from the Grupo de Estudio de Conducta y Demencias de la Sociedad Española de Neurología in two phases. First, a coordinating group defined the basic guidelines of the document, agreed on initial recommendations based on a literature review, and drafted a preliminary version. Subsequently, the proposal was reviewed by the entire working group, all comments were considered, and the coordinating group adjusted the recommendations until consensus was achieved among the participants.
Conclusions
The consensus document highlights the importance of early diagnosis of AD. It recommends interpreting blood biomarkers in the patient's clinical context, not in isolation. Specialized units can start using them, but this should be accompanied by ongoing research. More data are needed for their use in general neurology and primary care. Their use is not recommended in asymptomatic individuals, population screenings, or as direct-to-consumer tests. Public health systems should facilitate their implementation through appropriate funding to ensure equitable access. This document should be understood as an initial framework subject to periodic updates as new data emerge.
用于检测阿尔茨海默病(AD)的血液生物标志物的开发是最近最重要的进展之一,其中一些已经可用于临床实践。因此,社会老年痴呆症研究小组Española de Neurología成立了一个工作组,审查目前的状况,并为其临床实施制定共识建议。发展:本文件是由社会痴呆症研究小组Española de Neurología的神经学家分两个阶段编写的。首先,一个协调小组确定了文件的基本准则,在文献审查的基础上就初步建议达成一致,并起草了初步版本。随后,整个工作组对提案进行了审查,审议了所有意见,协调小组对建议进行了调整,直到与会者达成共识为止。结论:共识文件强调了早期诊断AD的重要性。它建议在患者的临床背景下解释血液生物标志物,而不是孤立地。专业单位可以开始使用它们,但这应该伴随着正在进行的研究。它们在普通神经病学和初级保健中的应用需要更多的数据。不建议在无症状个体、人群筛查或直接面向消费者的检测中使用。公共卫生系统应通过提供适当资金以确保公平获取来促进其实施。本文档应被理解为一个初始框架,随着新数据的出现,需要定期更新。
{"title":"Blood-based biomarkers for Alzheimer's disease: positioning document and usage recommendations from the Behavioral Neurology and Dementia Study Group of the Spanish Society of Neurology","authors":"M. Suárez-Calvet , C. Abdelnour , D. Alcolea , M. Mendióroz-Iriarte , M. Balasa , E. Morenas-Rodríguez , A. Puig-Pijoan , P. Sánchez-Juan , A. Villarejo , R. Sánchez-Valle , por el Grupo de trabajo en biomarcadores en sangre del Grupo de Estudio de Conducta y Demencias de la Sociedad Española de Neurología","doi":"10.1016/j.nrleng.2025.07.004","DOIUrl":"10.1016/j.nrleng.2025.07.004","url":null,"abstract":"<div><h3>Introduction</h3><div>The development of blood biomarkers for detecting Alzheimer's disease (AD) represents one of the most significant recent advances, and some are already available for clinical practice. Therefore, the Grupo de Estudio de Conducta y Demencias de la Sociedad Española de Neurología has formed a working group to review the current status and develop consensus recommendations for their clinical implementation.</div></div><div><h3>Development</h3><div>This document was prepared by neurologists from the Grupo de Estudio de Conducta y Demencias de la Sociedad Española de Neurología in two phases. First, a coordinating group defined the basic guidelines of the document, agreed on initial recommendations based on a literature review, and drafted a preliminary version. Subsequently, the proposal was reviewed by the entire working group, all comments were considered, and the coordinating group adjusted the recommendations until consensus was achieved among the participants.</div></div><div><h3>Conclusions</h3><div>The consensus document highlights the importance of early diagnosis of AD. It recommends interpreting blood biomarkers in the patient's clinical context, not in isolation. Specialized units can start using them, but this should be accompanied by ongoing research. More data are needed for their use in general neurology and primary care. Their use is not recommended in asymptomatic individuals, population screenings, or as direct-to-consumer tests. Public health systems should facilitate their implementation through appropriate funding to ensure equitable access. This document should be understood as an initial framework subject to periodic updates as new data emerge.</div></div>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"40 7","pages":"Pages 700-712"},"PeriodicalIF":0.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144677074","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 : 2025-09-01DOI: 10.1016/j.nrleng.2025.07.008
J.A. Gil-Montoya , M.J. Gerez-Muñoz , E. Triviño-Ibáñez , I. Carrera-Muñoz , M. Bravo , M. Rashki , P. Solis-Urra , I. Esteban-Cornejo , M. Gómez-Río
Introduction
Increases in brain β-amyloid protein (Aβ) levels have been demonstrated in animal models following oral inoculation of periodontopathogens or their enzyme gingipain. We investigated the association between periodontitis and brain Aβ protein levels in mild cognitive impairment (MCI).
Methods
An observational study was designed. All participants underwent a periodontal examination and an amyloid-PET scan. Subsequently, the following groups were established: MCI and suspected Alzheimer disease (AD) (MCI/Aβ+ group) (n = 45); MCI and suspected non-AD pathology (MCI/Aβ– group) (n = 59); cognitively healthy elderly individuals with negative PET-amyloid scan results (non-MCI/Aβ– group) (n = 60).
Results
Patients with moderate-severe periodontitis had a higher risk of abnormal accumulation of Aβ in the brain, with an odds ratio (OR) of 3.30 (95% confidence interval [CI], 1.30–8.26) when comparing patients from the MCI/Aβ+ and MCI/Aβ– groups, and an OR of 4.94 (95% CI, 1.65–14.84) when comparing the MCI/Aβ+ group against the non-MCI/Aβ– group.
Conclusions
Our findings suggest that periodontal disease may be associated with anomalous accumulation of cerebral Aβ protein in older people, independently of cognitive impairment.
在动物模型中,口腔接种牙周病病原体或其酶牙龈蛋白酶后,脑β-淀粉样蛋白(Aβ)水平升高。我们研究了轻度认知障碍(MCI)患者牙周炎与脑Aβ蛋白水平之间的关系。方法设计观察性研究。所有参与者都接受了牙周检查和淀粉样蛋白pet扫描。随后,建立以下组:MCI和疑似阿尔茨海默病(AD) (MCI/Aβ+组)(n = 45);MCI和疑似非ad病理(MCI/Aβ -组)(n = 59);认知健康老年人pet -淀粉样蛋白扫描结果阴性(非mci /Aβ -组)(n = 60)。结果中重度牙周炎患者发生脑内a β异常积聚的风险较高,MCI/ a β+组和MCI/ a β -组的比值比(OR)为3.30(95%可信区间[CI], 1.30 ~ 8.26), MCI/ a β+组与非MCI/ a β -组的比值比(OR)为4.94 (95% CI, 1.65 ~ 14.84)。结论牙周病可能与老年人大脑Aβ蛋白异常积累有关,与认知障碍无关。
{"title":"Periodontal disease and brain amyloid pathology in mild cognitive impairment","authors":"J.A. Gil-Montoya , M.J. Gerez-Muñoz , E. Triviño-Ibáñez , I. Carrera-Muñoz , M. Bravo , M. Rashki , P. Solis-Urra , I. Esteban-Cornejo , M. Gómez-Río","doi":"10.1016/j.nrleng.2025.07.008","DOIUrl":"10.1016/j.nrleng.2025.07.008","url":null,"abstract":"<div><h3>Introduction</h3><div>Increases in brain β-amyloid protein (Aβ) levels have been demonstrated in animal models following oral inoculation of periodontopathogens or their enzyme gingipain. We investigated the association between periodontitis and brain Aβ protein levels in mild cognitive impairment (MCI).</div></div><div><h3>Methods</h3><div>An observational study was designed. All participants underwent a periodontal examination and an amyloid-PET scan. Subsequently, the following groups were established: MCI and suspected Alzheimer disease (AD) (MCI/Aβ+ group) (<em>n</em> <!-->=<!--> <!-->45); MCI and suspected non-AD pathology (MCI/Aβ– group) (<em>n</em> <!-->=<!--> <!-->59); cognitively healthy elderly individuals with negative PET-amyloid scan results (non-MCI/Aβ– group) (<em>n</em> <!-->=<!--> <!-->60).</div></div><div><h3>Results</h3><div>Patients with moderate-severe periodontitis had a higher risk of abnormal accumulation of Aβ in the brain, with an odds ratio (OR) of 3.30 (95% confidence interval [CI], 1.30–8.26) when comparing patients from the MCI/Aβ+ and MCI/Aβ– groups, and an OR of 4.94 (95% CI, 1.65–14.84) when comparing the MCI/Aβ+ group against the non-MCI/Aβ– group.</div></div><div><h3>Conclusions</h3><div>Our findings suggest that periodontal disease may be associated with anomalous accumulation of cerebral Aβ protein in older people, independently of cognitive impairment.</div></div>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"40 7","pages":"Pages 641-650"},"PeriodicalIF":0.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144922238","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 : 2025-09-01DOI: 10.1016/j.nrleng.2025.07.005
J. García-de Soto , G. Fernández-Pajarín , D.A. García Estévez , Á. Sesar
{"title":"Dopa-responsive dystonia and young-onset parkinsonism in a patient with heterozygous mutation in SPR and PRKN treated with pallidal stimulation","authors":"J. García-de Soto , G. Fernández-Pajarín , D.A. García Estévez , Á. Sesar","doi":"10.1016/j.nrleng.2025.07.005","DOIUrl":"10.1016/j.nrleng.2025.07.005","url":null,"abstract":"","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"40 7","pages":"Pages 713-715"},"PeriodicalIF":0.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144683912","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 : 2025-09-01DOI: 10.1016/j.nrleng.2025.07.010
M. Marín-Gracia , N.L. Ciano-Petersen , P. Cabezudo-García , V. Fernández-Sánchez , J.A. Salazar-Benítez , R. Muñoz-Zea , M. Vidal-Denis , G. García-Martín , M.J. Postigo-Pozo , N. García-Casares , A. Gutierrez-Cardo , P.J. Serrano-Castro
Introduction
Late-onset Rasmussen encephalitis (LORE) is a rare, unihemispheric, progressive, inflammatory disorder causing severe neurological dysfunction and drug-resistant epilepsy with onset during late adolescence or adulthood. Due to the scarcity of available evidence, this study aims to improve its clinical characterization and summarize the distinctive features.
Development
Three illustrative cases are presented, including the clinical, neurophysiological, and neuroimaging work-up. Our findings are discussed with reference to previous evidence gathered through a comprehensive search.
The reported patients presented adult onset within a wide age range. The initial clinical manifestation was variable, including refractory focal epilepsy, progressive hemiparesis, and epilepsia partialis continua, in line with previous findings. Progressive hemiatrophy with frontal or posterior predominance in MRI and extensive hypometabolism in functional neuroimaging were documented. Unihemispheric slow background activity and epileptiform discharges progressively developed during the long-term follow-up, as described in the literature. According to the European consensus diagnostic criteria, 2 patients met the Part A and one the Part B criteria. As reported in previous publications, slower neurological decline was observed with immunotherapy.
Conclusions
Despite the wide range of clinical manifestations at onset, overall, LORE presents milder neurological deterioration and responds favorably to immunotherapy, which implies a better prognosis. Further studies are needed to establish the best strategy.
{"title":"Late-onset Rasmussen encephalitis: 3 illustrative cases and a review of the literature","authors":"M. Marín-Gracia , N.L. Ciano-Petersen , P. Cabezudo-García , V. Fernández-Sánchez , J.A. Salazar-Benítez , R. Muñoz-Zea , M. Vidal-Denis , G. García-Martín , M.J. Postigo-Pozo , N. García-Casares , A. Gutierrez-Cardo , P.J. Serrano-Castro","doi":"10.1016/j.nrleng.2025.07.010","DOIUrl":"10.1016/j.nrleng.2025.07.010","url":null,"abstract":"<div><h3>Introduction</h3><div>Late-onset Rasmussen encephalitis (LORE) is a rare, unihemispheric, progressive, inflammatory disorder causing severe neurological dysfunction and drug-resistant epilepsy with onset during late adolescence or adulthood. Due to the scarcity of available evidence, this study aims to improve its clinical characterization and summarize the distinctive features.</div></div><div><h3>Development</h3><div>Three illustrative cases are presented, including the clinical, neurophysiological, and neuroimaging work-up. Our findings are discussed with reference to previous evidence gathered through a comprehensive search.</div><div>The reported patients presented adult onset within a wide age range. The initial clinical manifestation was variable, including refractory focal epilepsy, progressive hemiparesis, and epilepsia partialis continua, in line with previous findings. Progressive hemiatrophy with frontal or posterior predominance in MRI and extensive hypometabolism in functional neuroimaging were documented. Unihemispheric slow background activity and epileptiform discharges progressively developed during the long-term follow-up, as described in the literature. According to the European consensus diagnostic criteria, 2 patients met the Part A and one the Part B criteria. As reported in previous publications, slower neurological decline was observed with immunotherapy.</div></div><div><h3>Conclusions</h3><div>Despite the wide range of clinical manifestations at onset, overall, LORE presents milder neurological deterioration and responds favorably to immunotherapy, which implies a better prognosis. Further studies are needed to establish the best strategy.</div></div>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"40 7","pages":"Pages 686-699"},"PeriodicalIF":0.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144922103","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 : 2025-09-01DOI: 10.1016/j.nrleng.2025.07.006
A. Murueta-Goyena , R. Del Pino , M. Carmona-Abellán , B. Tijero , M. Ruiz-Lopez , M. Acera , T. Morera-Herreras , C. Miguelez , O. Sáez-Atxukarro , T. Fernández-Valle , I. Gabilondo , J.C. Gómez-Esteban
Introduction
Differences in the trajectory of non-motor symptoms (NMS) between male and female Parkinson's disease (PD) patients over the course of the disease are not well-understood.
Methods
PD patients were rated with Non-Motor Symptom Scale (NMSS) at two time points with a median follow-up of 3.8 years (IQR 2.1–5.6 years). Sex, age, disease duration, Unified Parkinson's Disease Rating Scale and doses of PD-related medication were registered. Linear mixed models (LMMs) and multinomial logistic regression (MLR) models were fitted to explore the association of sex with changes in NMSS domains over time.
Results
Eighty-seven PD patients (30 females and 57 males) were enrolled. Baseline demographic and clinical characteristics were similar between female and male PD patients. The mean increase in NMS frequency and severity over time was non-significant, as well as the interaction term for disease duration × sex. However, gastrointestinal symptoms worsened in both males and females. According to the minimal detectable change of NMSS, <50% of PD patients experienced changes at follow-up beyond measurement error of the scale. Male sex predicted sexual function worsening (adjusted OR = 10.1, p = 0.038). Also, PD patients with more severe symptoms at baseline had increased odds of improving over time. However, high initial scores in attention/memory and cardiovascular domains also posed individuals at a higher risk of symptom worsening (OR [95% CI] = 1.4 [1.0-1.8], p = 0.034 and OR [95% CI] = 2.1 [1.2-3.7], p = 0.01, respectively).
Conclusion
NMS progression over the disease course in PD shows large inter-individual variability without observable effect of sex.
男性和女性帕金森病(PD)患者在病程中的非运动症状(NMS)轨迹差异尚不清楚。方法spd患者在两个时间点采用非运动症状量表(NMSS)进行评分,中位随访3.8年(IQR 2.1-5.6年)。登记性别、年龄、病程、统一帕金森病评定量表和pd相关药物剂量。采用线性混合模型(lmm)和多项逻辑回归模型(MLR)探讨性别与NMSS域随时间变化的关系。结果共纳入87例PD患者,其中女性30例,男性57例。女性和男性PD患者的基线人口学和临床特征相似。NMS频率和严重程度随时间的平均增加不显著,疾病持续时间×性别的相互作用项也不显著。然而,男性和女性的胃肠道症状都恶化了。根据NMSS最小可检出变化,50%的PD患者随访时出现超出量表测量误差的变化。男性预测性功能恶化(校正OR = 10.1, p = 0.038)。此外,在基线时症状更严重的PD患者随着时间的推移改善的几率增加。然而,注意/记忆和心血管领域的高初始得分也使个体具有更高的症状恶化风险(OR [95% CI] = 1.4 [1.0-1.8], p = 0.034, OR [95% CI] = 2.1 [1.2-3.7], p = 0.01)。结论PD患者nms在病程中的进展具有较大的个体差异,无明显的性别影响。
{"title":"Effect of sex on the progression of non-motor symptoms in Parkinson's disease: A registry-based cohort study","authors":"A. Murueta-Goyena , R. Del Pino , M. Carmona-Abellán , B. Tijero , M. Ruiz-Lopez , M. Acera , T. Morera-Herreras , C. Miguelez , O. Sáez-Atxukarro , T. Fernández-Valle , I. Gabilondo , J.C. Gómez-Esteban","doi":"10.1016/j.nrleng.2025.07.006","DOIUrl":"10.1016/j.nrleng.2025.07.006","url":null,"abstract":"<div><h3>Introduction</h3><div>Differences in the trajectory of non-motor symptoms (NMS) between male and female Parkinson's disease (PD) patients over the course of the disease are not well-understood.</div></div><div><h3>Methods</h3><div>PD patients were rated with Non-Motor Symptom Scale (NMSS) at two time points with a median follow-up of 3.8 years (IQR 2.1–5.6 years). Sex, age, disease duration, Unified Parkinson's Disease Rating Scale and doses of PD-related medication were registered. Linear mixed models (LMMs) and multinomial logistic regression (MLR) models were fitted to explore the association of sex with changes in NMSS domains over time.</div></div><div><h3>Results</h3><div>Eighty-seven PD patients (30 females and 57 males) were enrolled. Baseline demographic and clinical characteristics were similar between female and male PD patients. The mean increase in NMS frequency and severity over time was non-significant, as well as the interaction term for <em>disease duration</em> <!-->×<!--> <em>sex</em>. However, gastrointestinal symptoms worsened in both males and females. According to the minimal detectable change of NMSS, <50% of PD patients experienced changes at follow-up beyond measurement error of the scale. Male sex predicted sexual function worsening (adjusted OR<!--> <!-->=<!--> <!-->10.1, <em>p</em> <!-->=<!--> <!-->0.038). Also, PD patients with more severe symptoms at baseline had increased odds of improving over time. However, high initial scores in attention/memory and cardiovascular domains also posed individuals at a higher risk of symptom worsening (OR [95% CI] = 1.4 [1.0-1.8], <em>p</em> <!-->=<!--> <!-->0.034 and OR [95% CI] = 2.1 [1.2-3.7], <em>p</em> <!-->=<!--> <!-->0.01, respectively).</div></div><div><h3>Conclusion</h3><div>NMS progression over the disease course in PD shows large inter-individual variability without observable effect of sex.</div></div>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"40 7","pages":"Pages 620-629"},"PeriodicalIF":0.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144922236","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 : 2025-07-01DOI: 10.1016/j.nrleng.2025.06.011
I. Otero-Luis , A. Saz-Lara , I. Cavero-Redondo , C. Pascual-Morena , I. Martínez-García , S. Nuñez de Arenas-Arroyo
Objective
To analyze the effectiveness of intrathecal baclofen in the treatment of spasticity of different aetiologies in the upper limbs, lower limbs, and both children and adults.
Design
Meta-analysis.
Subjects/Patients
People with spasticity of different aetiologies in treatment with intrathecal baclofen.
Methods
A systematic search was performed in the PubMed, Scopus, Cochrane Library, and Web of Science databases with the earliest data available up to November 1, 2022. Random-effects models were used to calculate pooled mean difference estimates and their respective 95% CIs to assess the effectiveness of intrathecal baclofen treatment on spasticity of different aetiologies using the modified Ashworth scale. All statistical analyses were performed with STATA 15 software.
Results
Finally, 11 studies were included in the meta-analysis. The effect of baclofen treatment administered by an intrathecal pump on spasticity measured by the modified Ashworth scale led to a significant decrease in spasticity in both adults (MD: −1.54; 95% CI: −1.80, −1.27) and children (MD: −0.70; 95% CI: −0.91, −0.49), with greater effectiveness for lower limb spasticity (MD: −1.45; 95% CI: −1.93, −0.97). The results should be interpreted with caution since there is heterogeneity due to differences between populations (age or types of diseases).
Conclusion
These findings are important for clinical practice, as they demonstrate the efficacy of intrathecal baclofen in treatment of spasticity, thus improving patient quality of life, being more effective at a younger age and longer duration of treatment, always taking into account statistical limitations.
{"title":"Effectiveness of the intrathecal baclofen pump in the treatment of spasticity of different aetiologies: A systematic review and meta-analysis","authors":"I. Otero-Luis , A. Saz-Lara , I. Cavero-Redondo , C. Pascual-Morena , I. Martínez-García , S. Nuñez de Arenas-Arroyo","doi":"10.1016/j.nrleng.2025.06.011","DOIUrl":"10.1016/j.nrleng.2025.06.011","url":null,"abstract":"<div><h3>Objective</h3><div>To analyze the effectiveness of intrathecal baclofen in the treatment of spasticity of different aetiologies in the upper limbs, lower limbs, and both children and adults.</div></div><div><h3>Design</h3><div>Meta-analysis.</div></div><div><h3>Subjects/Patients</h3><div>People with spasticity of different aetiologies in treatment with intrathecal baclofen.</div></div><div><h3>Methods</h3><div>A systematic search was performed in the PubMed, Scopus, Cochrane Library, and Web of Science databases with the earliest data available up to November 1, 2022. Random-effects models were used to calculate pooled mean difference estimates and their respective 95% CIs to assess the effectiveness of intrathecal baclofen treatment on spasticity of different aetiologies using the modified Ashworth scale. All statistical analyses were performed with STATA 15 software.</div></div><div><h3>Results</h3><div>Finally, 11 studies were included in the meta-analysis. The effect of baclofen treatment administered by an intrathecal pump on spasticity measured by the modified Ashworth scale led to a significant decrease in spasticity in both adults (MD: −1.54; 95% CI: −1.80, −1.27) and children (MD: −0.70; 95% CI: −0.91, −0.49), with greater effectiveness for lower limb spasticity (MD: −1.45; 95% CI: −1.93, −0.97). The results should be interpreted with caution since there is heterogeneity due to differences between populations (age or types of diseases).</div></div><div><h3>Conclusion</h3><div>These findings are important for clinical practice, as they demonstrate the efficacy of intrathecal baclofen in treatment of spasticity, thus improving patient quality of life, being more effective at a younger age and longer duration of treatment, always taking into account statistical limitations.</div></div>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"40 6","pages":"Pages 577-585"},"PeriodicalIF":0.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144767069","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 : 2025-07-01DOI: 10.1016/j.nrleng.2025.06.012
A. Bartos , S. Diondet
Background and purpose
We report the development and validation of a unique, easily administered, but cognitively demanding 3-min test that does not require aids and can detect mild cognitive deficits (MCD).
Methods
The innovative Amnesia Light and Brief Assessment (ALBA) consists of 4 tasks: encoding the 6-word sentence “Indian summer brings first morning frost,” sequential demonstration of 6 gestures and their immediate recall, and final recall of the original sentence. The memory ALBA score is the sum of all correctly recalled sentence words and gestures. The ALBA was performed in 590 persons older than 50 years, including 60 individuals who completed a neuropsychological battery, equally divided into patients with MCD (Montreal Cognitive Assessment [MoCA] score of 21 ± 3 points) and matched cognitively normal (CN) individuals (MoCA of 27 ± 2).
Results
Compared to CN individuals, the patients with MCD recalled fewer correct sentence words (median, 5 vs 2) and gestures (4 vs 3), and had lower memory ALBA scores (10 vs 6) (all comparisons, P < .00001). The cut-off point for the memory ALBA score was ≤8, with 90% sensitivity, 77% specificity, and an AUC of 0.90. Memory ALBA score correlated significantly with all neuropsychological tests except the Digit Span forward. The ALBA was minimally associated with education and age in the normative sample.
Conclusions
The novel and efficient ALBA test was confirmed to have high discriminant and convergent validity, even in patients with mild cognitive deficits. The ALBA is an ultra-brief and universal cognitive test suitable for assessing cognitive impairment, dementia, and other conditions. It can easily be adapted to other cultures and administered under various conditions and settings in clinical practice and research.
{"title":"The sensitive Amnesia Light and Brief Assessment (ALBA) is a valid 3-min test of 4 tasks indicative of mild cognitive deficits","authors":"A. Bartos , S. Diondet","doi":"10.1016/j.nrleng.2025.06.012","DOIUrl":"10.1016/j.nrleng.2025.06.012","url":null,"abstract":"<div><h3>Background and purpose</h3><div>We report the development and validation of a unique, easily administered, but cognitively demanding 3-min test that does not require aids and can detect mild cognitive deficits (MCD).</div></div><div><h3>Methods</h3><div>The innovative Amnesia Light and Brief Assessment (ALBA) consists of 4 tasks: encoding the 6-word sentence “Indian summer brings first morning frost,” sequential demonstration of 6 gestures and their immediate recall, and final recall of the original sentence. The memory ALBA score is the sum of all correctly recalled sentence words and gestures. The ALBA was performed in 590 persons older than 50 years, including 60 individuals who completed a neuropsychological battery, equally divided into patients with MCD (Montreal Cognitive Assessment [MoCA] score of 21<!--> <!-->±<!--> <!-->3 points) and matched cognitively normal (CN) individuals (MoCA of 27<!--> <!-->±<!--> <!-->2).</div></div><div><h3>Results</h3><div>Compared to CN individuals, the patients with MCD recalled fewer correct sentence words (median, 5 vs 2) and gestures (4 vs 3), and had lower memory ALBA scores (10 vs 6) (all comparisons, <em>P</em> <!--><<!--> <!-->.00001). The cut-off point for the memory ALBA score was ≤8, with 90% sensitivity, 77% specificity, and an AUC of 0.90. Memory ALBA score correlated significantly with all neuropsychological tests except the Digit Span forward. The ALBA was minimally associated with education and age in the normative sample.</div></div><div><h3>Conclusions</h3><div>The novel and efficient ALBA test was confirmed to have high discriminant and convergent validity, even in patients with mild cognitive deficits. The ALBA is an ultra-brief and universal cognitive test suitable for assessing cognitive impairment, dementia, and other conditions. It can easily be adapted to other cultures and administered under various conditions and settings in clinical practice and research.</div></div>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"40 6","pages":"Pages 586-598"},"PeriodicalIF":0.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144767070","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 : 2025-07-01DOI: 10.1016/j.nrleng.2025.06.001
R.C. Braña Miranda , N.E. Quintanal Cordero , N. Pavón Fuentes , I. Pedroso Ibáñez , R. Macías González , J. Teijeiro Amador , A. Abreu Duque , R. Garbey Fernández
Introduction
Functional Neurosurgery constitutes a therapeutic alternative for patients with Parkinson's Disease (PD). It is known that both bilateral subthalamotomy and bilateral pallidotomy cause neurological complications, so in ablative techniques a bilateral approach to the GPi is not recommended in PD and caution is suggested with the indication of bilateral subthalamotomy. Our group has refined the surgical technique for the ablation of the subthalamic nucleus seeking to reduce the appearance of dyskinesias induced by surgery and obtain a better therapeutic effect, so the approach to the NST in a second surgical procedure in the opposite hemisphere to the one performed previously pallidotomy, would avoid the complications derived from bilateral pallidotomy and can be a safe alternative for patients even when they present symptoms of dyskinesias. We set out to evaluate the effect and safety of the combination of GPi and NST lesion in opposite cerebral hemispheres in PD patients.
Method
A retrospective study was carried out that included all patients operated on at the CIREN in a period of 22 years, who underwent a pallidotomy contralateral to the most affected hemibody; followed by a subthalamotomy of the opposite hemisphere in a second surgical procedure. The effect on the neurological condition was evaluated using section III of the MDS-UPDRS scale. Safety was evaluated according to the adverse effects scale and the Clavien and Dindo scale.
Results
Both surgical interventions had a positive impact on the patients' pharmacological treatment, significantly reducing the doses of L-dopa. A significant improvement was observed in the motor condition of the patients in relation to dyskinesias, as well as rigidity, bradykinesia and tremor.
Conclusions
The pallidotomy/subthalamotomy combination showed to be an effective alternative for the treatment of complicated PD, capable of allowing better motor control and a reduction in the dose of L-Dopa with a low rate of complications; it also allows to avoid complications derived from bilateral pallidotomy and subthalamotomy, proving to be a safe alternative for patients even when they present symptoms of dyskinesias.
{"title":"Effect of the combination pallidotomy-subthalamotomy performed in opposite cerebral hemispheres for the treatment of motor signs in Parkinson's disease","authors":"R.C. Braña Miranda , N.E. Quintanal Cordero , N. Pavón Fuentes , I. Pedroso Ibáñez , R. Macías González , J. Teijeiro Amador , A. Abreu Duque , R. Garbey Fernández","doi":"10.1016/j.nrleng.2025.06.001","DOIUrl":"10.1016/j.nrleng.2025.06.001","url":null,"abstract":"<div><h3>Introduction</h3><div>Functional Neurosurgery constitutes a therapeutic alternative for patients with Parkinson's Disease (PD). It is known that both bilateral subthalamotomy and bilateral pallidotomy cause neurological complications, so in ablative techniques a bilateral approach to the GPi is not recommended in PD and caution is suggested with the indication of bilateral subthalamotomy. Our group has refined the surgical technique for the ablation of the subthalamic nucleus seeking to reduce the appearance of dyskinesias induced by surgery and obtain a better therapeutic effect, so the approach to the NST in a second surgical procedure in the opposite hemisphere to the one performed previously pallidotomy, would avoid the complications derived from bilateral pallidotomy and can be a safe alternative for patients even when they present symptoms of dyskinesias. We set out to evaluate the effect and safety of the combination of GPi and NST lesion in opposite cerebral hemispheres in PD patients.</div></div><div><h3>Method</h3><div>A retrospective study was carried out that included all patients operated on at the CIREN in a period of 22 years, who underwent a pallidotomy contralateral to the most affected hemibody; followed by a subthalamotomy of the opposite hemisphere in a second surgical procedure. The effect on the neurological condition was evaluated using section III of the MDS-UPDRS scale. Safety was evaluated according to the adverse effects scale and the Clavien and Dindo scale.</div></div><div><h3>Results</h3><div>Both surgical interventions had a positive impact on the patients' pharmacological treatment, significantly reducing the doses of L-dopa. A significant improvement was observed in the motor condition of the patients in relation to dyskinesias, as well as rigidity, bradykinesia and tremor.</div></div><div><h3>Conclusions</h3><div>The pallidotomy/subthalamotomy combination showed to be an effective alternative for the treatment of complicated PD, capable of allowing better motor control and a reduction in the dose of L-Dopa with a low rate of complications; it also allows to avoid complications derived from bilateral pallidotomy and subthalamotomy, proving to be a safe alternative for patients even when they present symptoms of dyskinesias.</div></div>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"40 6","pages":"Pages 518-532"},"PeriodicalIF":0.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144478375","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}