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Redefining periodic paralysis with CACNA1S mutation in a Spanish cohort 重新定义西班牙队列中CACNA1S突变的周期性麻痹
Pub Date : 2025-09-01 DOI: 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.
据报道,肌肉MRI和电生理运动测试是低钾性周期性麻痹(HypoPP)的有用技术。患有这种疾病的男性和女性之间的显著临床差异是众所周知的;然而,关于在无症状人群中进行补充检测的信息很少。方法我们从4个独立的家族中招募了11例HypoPP患者,他们携带钙通道基因CACNA1S的p.R528H突变;样本包括8名有症状的男性和3名无症状的女性,以及来自同一家庭的9名对照组。在这一同质队列中评估肌肉MRI和电生理长时间运动测试结果。结果在有症状和无症状携带者中,肌肉MRI表现为萎缩和脂肪浸润,主要累及大腿后隔肌,首先累及大收肌和半膜肌,与年龄有关。长时间运动试验显示,无论症状如何,所有携带者的复合肌肉动作电位振幅和面积都有延迟性下降,35分钟后结果100%敏感。结论我们的研究结果重新定义了p.R528H CACNA1S突变引起的HypoPP的运动试验和肌肉成像结果,特别关注无症状携带者,他们表现出与有症状患者相同的改变,从而突出了它们作为筛查工具的价值。
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引用次数: 0
Development and concurrent validation of a retrogenetic instrument for the assessment of activities of daily living: the functional assessment scale of the Barcelona test 日常生活活动评估的逆向仪器的开发和同步验证:巴塞罗那测试的功能评估量表。
Pub Date : 2025-09-01 DOI: 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.
日常生活活动(ADL)的评估被认为是评估轻度认知障碍(MCI),痴呆及其正确鉴别诊断的必要条件。这些实体的功能评估有许多尺度,尽管它们也有缺点。巴塞罗那测试ADL量表于2019年发布,目的是拥有一种可以克服其前身遇到的大部分问题的逆向工具。方法:对该标度进行性能评价。共有68名受试者(健康对照、遗忘型轻度认知损伤患者和阿尔茨海默氏型痴呆患者)根据全球认知障碍量表-全球恶化量表进行分层,并完成功能评估分期量表(GDS-FAST)。研究各组在量表以及其他认知测试上的得分,以获得描述性和内部一致性、并发效度和判别能力指标。结果:各分层组间量表均值差异显著。内部一致性指数高(Cronbach’s α 0.975),并发效度好(Spearman’s ρ为0.95),区分能力好,特别是GDS-FAST 3、4组和GDS-FAST 4、5组之间。结论:巴塞罗那测试ADL量表可以充分评估患者的逆行功能水平,并区分GDS-FAST的不同阶段,在我们的社会文化环境中,它将自己定位为一个非常完整和有用的量表。
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引用次数: 0
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 阿尔茨海默病的血液生物标志物:来自西班牙神经病学学会行为神经病学和痴呆研究组的定位文件和使用建议。
Pub Date : 2025-09-01 DOI: 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。
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引用次数: 0
Periodontal disease and brain amyloid pathology in mild cognitive impairment 轻度认知障碍的牙周病和脑淀粉样蛋白病理
Pub Date : 2025-09-01 DOI: 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。
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引用次数: 0
Dopa-responsive dystonia and young-onset parkinsonism in a patient with heterozygous mutation in SPR and PRKN treated with pallidal stimulation SPR和PRKN杂合突变患者的多巴反应性肌张力障碍和年轻发作的帕金森病接受pallial刺激。
Pub Date : 2025-09-01 DOI: 10.1016/j.nrleng.2025.07.005
J. García-de Soto , G. Fernández-Pajarín , D.A. García Estévez , Á. Sesar
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引用次数: 0
Late-onset Rasmussen encephalitis: 3 illustrative cases and a review of the literature 迟发性拉斯穆森脑炎:3例说明性病例及文献回顾
Pub Date : 2025-09-01 DOI: 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.
迟发性拉斯穆森脑炎(late -onset Rasmussen encephalitis, LORE)是一种罕见的单半球进行性炎性疾病,可导致严重的神经功能障碍和耐药性癫痫,发病时间为青春期晚期或成年期。由于现有证据不足,本研究旨在完善其临床特征,总结其特点。三个说明性病例被提出,包括临床,神经生理和神经影像学检查。我们的研究结果与之前通过全面搜索收集到的证据进行了讨论。报告的患者在广泛的年龄范围内呈现成人发病。最初的临床表现是多变的,包括难治性局灶性癫痫、进行性偏瘫和持续部分性癫痫,与先前的研究结果一致。MRI显示进行性半萎缩以额部或后部为主,功能性神经影像学显示广泛的低代谢。如文献所述,在长期随访期间,单脑慢背景活动和癫痫样放电逐渐发展。根据欧洲共识诊断标准,2例患者符合A部分标准,1例符合B部分标准。正如以前的出版物所报道的那样,免疫治疗观察到神经功能下降较慢。结论尽管起病时临床表现广泛,但总体而言,LORE神经功能恶化较轻,免疫治疗反应良好,预后较好。需要进一步的研究来确定最佳策略。
{"title":"Late-onset Rasmussen encephalitis: 3 illustrative cases and a review of the literature","authors":"M. Marín-Gracia ,&nbsp;N.L. Ciano-Petersen ,&nbsp;P. Cabezudo-García ,&nbsp;V. Fernández-Sánchez ,&nbsp;J.A. Salazar-Benítez ,&nbsp;R. Muñoz-Zea ,&nbsp;M. Vidal-Denis ,&nbsp;G. García-Martín ,&nbsp;M.J. Postigo-Pozo ,&nbsp;N. García-Casares ,&nbsp;A. Gutierrez-Cardo ,&nbsp;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}
引用次数: 0
Effect of sex on the progression of non-motor symptoms in Parkinson's disease: A registry-based cohort study 性别对帕金森病非运动症状进展的影响:一项基于登记的队列研究
Pub Date : 2025-09-01 DOI: 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 ,&nbsp;R. Del Pino ,&nbsp;M. Carmona-Abellán ,&nbsp;B. Tijero ,&nbsp;M. Ruiz-Lopez ,&nbsp;M. Acera ,&nbsp;T. Morera-Herreras ,&nbsp;C. Miguelez ,&nbsp;O. Sáez-Atxukarro ,&nbsp;T. Fernández-Valle ,&nbsp;I. Gabilondo ,&nbsp;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, &lt;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}
引用次数: 0
Effectiveness of the intrathecal baclofen pump in the treatment of spasticity of different aetiologies: A systematic review and meta-analysis 鞘内巴氯芬泵治疗不同病因痉挛的有效性:系统回顾和荟萃分析
Pub Date : 2025-07-01 DOI: 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.
目的分析鞘内注射巴氯芬治疗上肢、下肢及儿童和成人不同病因痉挛的疗效。不同病因的痉挛患者使用鞘内巴氯芬治疗。方法系统检索PubMed、Scopus、Cochrane Library和Web of Science数据库,检索到2022年11月1日的最早数据。采用随机效应模型计算汇总均差估计值及其各自的95% ci,采用改良Ashworth量表评估鞘内巴氯芬治疗不同病因痉挛的有效性。所有统计分析均采用STATA 15软件进行。结果最终有11项研究被纳入meta分析。经鞘内泵给予巴氯芬治疗对经改良Ashworth量表测量的痉挛的影响导致两名成人的痉挛显著降低(MD: - 1.54;95% CI: - 1.80, - 1.27)和儿童(MD: - 0.70;95% CI: - 0.91, - 0.49),对下肢痉挛更有效(MD: - 1.45;95% ci:−1.93,−0.97)。由于人群之间的差异(年龄或疾病类型),结果存在异质性,因此应谨慎解释。结论这些发现对临床实践具有重要意义,因为它们证明了鞘内巴氯芬治疗痉挛的有效性,从而改善了患者的生活质量,在考虑到统计局限性的情况下,更年轻、更长的治疗时间更有效。
{"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 ,&nbsp;A. Saz-Lara ,&nbsp;I. Cavero-Redondo ,&nbsp;C. Pascual-Morena ,&nbsp;I. Martínez-García ,&nbsp;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}
引用次数: 0
The sensitive Amnesia Light and Brief Assessment (ALBA) is a valid 3-min test of 4 tasks indicative of mild cognitive deficits 灵敏遗忘轻与短暂评估(ALBA)是一种有效的3分钟4个任务的测试,表明轻度认知缺陷
Pub Date : 2025-07-01 DOI: 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.
背景和目的我们报告了一种独特的,易于管理的,但对认知要求高的3分钟测试的开发和验证,该测试不需要辅助,可以检测轻度认知缺陷(MCD)。方法创新的遗忘轻简评估(ALBA)由4个任务组成:对6个单词的句子“印度的夏天带来了第一个早晨的霜冻”进行编码,顺序演示6个手势及其即时记忆,最后回忆原句子。记忆ALBA分数是所有正确回忆的句子、单词和手势的总和。在590名50岁以上的老年人中进行了ALBA,其中60人完成了神经心理学测试,平均分为MCD患者(蒙特利尔认知评估[MoCA]评分21±3分)和匹配的认知正常(CN)患者(MoCA评分27±2分)。结果与CN个体相比,MCD患者回忆起的正确句子单词(中位数,5比2)和手势(中位数,4比3)较少,记忆ALBA评分(10比6)较低(所有比较,P <;.00001)。记忆ALBA评分的截止点≤8,灵敏度90%,特异性77%,AUC为0.90。记忆ALBA得分与除数字跨距外的所有神经心理测试均显著相关。在规范样本中,ALBA与教育程度和年龄的关系最小。结论ALBA测试具有较高的判别效度和收敛效度,适用于轻度认知障碍患者。ALBA是一种超简短和通用的认知测试,适用于评估认知障碍、痴呆和其他疾病。它可以很容易地适应其他培养,并在临床实践和研究中的各种条件和设置下进行管理。
{"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 ,&nbsp;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> <!-->&lt;<!--> <!-->.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}
引用次数: 0
Effect of the combination pallidotomy-subthalamotomy performed in opposite cerebral hemispheres for the treatment of motor signs in Parkinson's disease 在对侧大脑半球进行白球切开术-丘脑下切开术联合治疗帕金森病运动体征的效果
Pub Date : 2025-07-01 DOI: 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.
功能神经外科是帕金森病(PD)患者的一种治疗选择。众所周知,双侧丘脑下切开术和双侧pallidotomy都会引起神经系统并发症,因此在PD的消融技术中不推荐双侧入路GPi,建议谨慎使用双侧丘脑下切开术。本小组已经改进了丘脑下核消融的手术技术,以减少手术引起的运动障碍的出现,并获得更好的治疗效果,因此,与之前进行的苍白球切开术相比,在对半球进行第二次手术进入NST,可以避免双侧苍白球切开术引起的并发症,即使患者出现运动障碍症状,也可以是一种安全的选择。我们开始评估PD患者对侧大脑半球GPi和NST病变联合治疗的效果和安全性。方法:回顾性研究纳入了22年来在CIREN手术的所有患者,这些患者在最严重的身体对侧进行了苍白球切开术;然后在第二次手术中对对半球进行丘脑下切开术。使用MDS-UPDRS量表第III节评估对神经系统状况的影响。根据不良反应量表和Clavien和Dindo量表进行安全性评价。结果:两种手术干预均对患者的药物治疗产生积极影响,显著减少左旋多巴的剂量。在与运动障碍、强直、运动迟缓和震颤相关的患者的运动状况中观察到显著的改善。结论:苍白球切开术/丘脑下切开术联合治疗复杂性帕金森病是一种有效的替代方法,能够更好地控制运动,减少左旋多巴的剂量,并发症发生率低;它还可以避免双侧苍白球切开术和丘脑下切开术引起的并发症,即使患者出现运动障碍症状,也是一种安全的选择。
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Neurologia
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