Pub Date : 2025-11-01DOI: 10.1016/j.nrl.2023.04.009
M. Henao-Pérez , D.C. López-Medina , A. Arboleda-Ramírez , N.L. Patiño-Jaramillo , J.F. Zapata-Berruecos , R. Andrade
Introduction
Epilepsy with palpebral myoclonus is an idiopathic generalized childhood epilepsy, which is underdiagnosed because it is confused with tics or behavioral actions.
Patients and methods
Quantitative, observational, descriptive of 16 patients with epilepsy and myoclonic eyelids treated at an institution specialized in neurology, between the years 2017 and 2022. Clinical histories and videoelectroencephalograms were evaluated.
Results
Of 16 patients, 11 were women (68.8%), the median age was 17.5 years (IQR 12.5). The first diagnosis most frequently received by patients was idiopathic generalized epilepsy. Stressful situations were the most reported precipitant. 93.75% of the patients initially presented palpebral myoclonic seizures and after several years presented generalized tonic-clonic seizures. The time elapsed between the first seizure and the diagnosis varied between 1 and more than 40 years, being greater among patients with a subsidized health system. Men had a high frequency of family history of epilepsy in the first and second degrees of consanguinity, had a longer delay in diagnosis and reported greater drug resistance. In both women and men, the posterior regions (occipital, temporoccipital and parietoccipital) presented a greater focal epileptiform activity. The photoparoxysmal response occurred with greater predominance in women, with the Waltz type iii and iv responses being the most frequent.
Conclusion
The importance of suspecting this pathology before palpebral myoclonus in children should be highlighted, guaranteeing quality and timely management.
{"title":"Serie de casos de epilepsia con mioclonías palpebrales","authors":"M. Henao-Pérez , D.C. López-Medina , A. Arboleda-Ramírez , N.L. Patiño-Jaramillo , J.F. Zapata-Berruecos , R. Andrade","doi":"10.1016/j.nrl.2023.04.009","DOIUrl":"10.1016/j.nrl.2023.04.009","url":null,"abstract":"<div><h3>Introduction</h3><div>Epilepsy with palpebral myoclonus is an idiopathic generalized childhood epilepsy, which is underdiagnosed because it is confused with tics or behavioral actions.</div></div><div><h3>Patients and methods</h3><div>Quantitative, observational, descriptive of 16 patients with epilepsy and myoclonic eyelids treated at an institution specialized in neurology, between the years 2017 and 2022. Clinical histories and videoelectroencephalograms were evaluated.</div></div><div><h3>Results</h3><div>Of 16 patients, 11 were women (68.8%), the median age was 17.5 years (IQR 12.5). The first diagnosis most frequently received by patients was idiopathic generalized epilepsy. Stressful situations were the most reported precipitant. 93.75% of the patients initially presented palpebral myoclonic seizures and after several years presented generalized tonic-clonic seizures. The time elapsed between the first seizure and the diagnosis varied between 1 and more than 40 years, being greater among patients with a subsidized health system. Men had a high frequency of family history of epilepsy in the first and second degrees of consanguinity, had a longer delay in diagnosis and reported greater drug resistance. In both women and men, the posterior regions (occipital, temporoccipital and parietoccipital) presented a greater focal epileptiform activity. The photoparoxysmal response occurred with greater predominance in women, with the Waltz type <span>iii</span> and <span>iv</span> responses being the most frequent.</div></div><div><h3>Conclusion</h3><div>The importance of suspecting this pathology before palpebral myoclonus in children should be highlighted, guaranteeing quality and timely management.</div></div>","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 9","pages":"Pages 855-863"},"PeriodicalIF":3.1,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145425464","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-11-01DOI: 10.1016/j.nrl.2023.03.006
T. Julio-Ramos , V. Mora-Castelleto , C. Foncea-González , C. Adames-Valencia , I. Cigarroa , C. Méndez-Orellana , D. Toloza-Ramirez
Introduction
Alzheimer's disease (AD) reports heterogeneity of neuropsychological symptoms misleading the differential diagnosis with other forms of dementia, such as dementia with Lewy bodies (DLB). About 50% of DLB patients are misdiagnosed as AD cases. Likewise, the diagnosis of both diseases is mainly based on clinical characteristics. However, differentiating AD of those with DLB based on neuropsychological symptoms and anatomical and functional brain changes remains challenging.
Aim
To establish the main neuropsychological, anatomical, and functional similarities and differences in patients with AD and DLB.
Methods
The present study followed the PRISMA guidelines and included studies from the PubMed, Scopus, and Web of Sciences databases, published between January 2000 and July 2022.
Results
Forty-one articles were included in this systematic review for critical analysis. Our results suggest that the cognitive key domains to consider in the differential diagnosis are memory, executive function, attention, visuospatial/visuoconstructive skills, and verbal fluency (both semantic and phonological). The stage and severity of both diseases would be essential for differential diagnosis. On the other hand, the anatomical and functional changes suggest a similar atrophy pattern between AD and DLB in the frontal, parietal, temporal, hippocampal, and precuneus regions.
Conclusion
The differential diagnosis between AD and DLB is challenging in clinical practice. Therefore, our results suggest exploring cognitive linguistic markers along with correlating these markers with anatomical and functional brain changes.
阿尔茨海默病(AD)报告了神经心理症状的异质性,误导了与其他形式的痴呆(如路易体痴呆(DLB))的鉴别诊断。约50%的DLB患者被误诊为AD病例。同样,这两种疾病的诊断主要基于临床特征。然而,根据神经心理症状和大脑解剖和功能变化来区分DLB患者的AD仍然具有挑战性。目的探讨AD和DLB患者主要神经心理、解剖学和功能上的异同。方法本研究遵循PRISMA指南,纳入了2000年1月至2022年7月期间发表的PubMed、Scopus和Web of Sciences数据库中的研究。结果本系统综述纳入41篇文献进行批判性分析。我们的研究结果表明,在鉴别诊断中需要考虑的认知关键领域是记忆、执行功能、注意力、视觉空间/视觉构建技能和语言流畅性(包括语义和语音)。两种疾病的分期和严重程度对于鉴别诊断至关重要。另一方面,解剖和功能变化表明AD和DLB在额叶、顶叶、颞叶、海马和楔前叶区域有相似的萎缩模式。结论AD与DLB的鉴别诊断在临床实践中具有挑战性。因此,我们的研究结果建议探索认知语言标记,并将这些标记与大脑的解剖和功能变化联系起来。
{"title":"Diagnóstico neuropsicológico diferencial en enfermedad de Alzheimer y demencia por cuerpos de Lewy: una revisión sistemática","authors":"T. Julio-Ramos , V. Mora-Castelleto , C. Foncea-González , C. Adames-Valencia , I. Cigarroa , C. Méndez-Orellana , D. Toloza-Ramirez","doi":"10.1016/j.nrl.2023.03.006","DOIUrl":"10.1016/j.nrl.2023.03.006","url":null,"abstract":"<div><h3>Introduction</h3><div>Alzheimer's disease (AD) reports heterogeneity of neuropsychological symptoms misleading the differential diagnosis with other forms of dementia, such as dementia with Lewy bodies (DLB). About 50% of DLB patients are misdiagnosed as AD cases. Likewise, the diagnosis of both diseases is mainly based on clinical characteristics. However, differentiating AD of those with DLB based on neuropsychological symptoms and anatomical and functional brain changes remains challenging.</div></div><div><h3>Aim</h3><div>To establish the main neuropsychological, anatomical, and functional similarities and differences in patients with AD and DLB.</div></div><div><h3>Methods</h3><div>The present study followed the PRISMA guidelines and included studies from the PubMed, Scopus, and Web of Sciences databases, published between January 2000 and July 2022.</div></div><div><h3>Results</h3><div>Forty-one articles were included in this systematic review for critical analysis. Our results suggest that the cognitive key domains to consider in the differential diagnosis are memory, executive function, attention, visuospatial/visuoconstructive skills, and verbal fluency (both semantic and phonological). The stage and severity of both diseases would be essential for differential diagnosis. On the other hand, the anatomical and functional changes suggest a similar atrophy pattern between AD and DLB in the frontal, parietal, temporal, hippocampal, and precuneus regions.</div></div><div><h3>Conclusion</h3><div>The differential diagnosis between AD and DLB is challenging in clinical practice. Therefore, our results suggest exploring cognitive linguistic markers along with correlating these markers with anatomical and functional brain changes.</div></div>","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 9","pages":"Pages 884-914"},"PeriodicalIF":3.1,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145425492","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-11-01DOI: 10.1016/j.nrl.2023.03.007
R. Baviera-Muñoz , T. Jaijo , M. Campins-Romeu , I. Martínez-Torres , I. Sastre-Bataller
{"title":"Complex dystonia in an adolescent male with a MECP2 variant","authors":"R. Baviera-Muñoz , T. Jaijo , M. Campins-Romeu , I. Martínez-Torres , I. Sastre-Bataller","doi":"10.1016/j.nrl.2023.03.007","DOIUrl":"10.1016/j.nrl.2023.03.007","url":null,"abstract":"","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 9","pages":"Pages 924-925"},"PeriodicalIF":3.1,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145425494","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-11-01DOI: 10.1016/j.nrl.2023.06.010
L. Busteed , A. Horta-Barba , A. Reig , C. García-Sánchez , B. Pascual-Sedano , I. Gich , P. Roy Ciffone , J. Kulisevsky , J. Pagonabarraga
Introduction
Speech and language disturbances are very frequent in progressive supranuclear palsy (PSP). Therefore, they are part of the diagnostic criteria set forth by the International Parkinson and Movement Disorder Society (MDS) for the disease and are considered a core clinical feature. However, more studies are needed to characterize the linguistic profile of PSP, thus being able to assist in the differential diagnosis. Additionally, studies assessing linguistic differences among PSP phenotypes are needed. The objective of this study is to analyze the language alterations presented by patients with PSP, as well as its different phenotypes, and differentiate them from those presented in patients with Parkinson's disease (PD).
Methods
An extensive cognitive and linguistic assessment was administered to 13 PSP patients, 19 PD patients and 19 healthy controls (HC) with similar sociodemographic features. Language assessment included evaluation of: syntactic processing, object naming, and phonetic and semantic fluencies. We included a subgroup of 6 PSP patients, 19 PD patients and 19 HC for further analysis of language. This analysis included, in addition to the general evaluation, the assessment of alternating fluency, comprehension, naming, automatic speech, repetition, object recognition, verbal and written instructions, writing to dictation, and oral expression.
Results
We found greater impairment on phonetic, semantic, and alternating fluencies, following verbal instructions, repetition, syntactic processing and writing (without phonetic paragraphia) in the PSP group compared to patients with PD and HC. Distinguishing linguistic features of PSP with a less marked reduction than the previously mentioned features were automatic speech, fluency of speech, and naming. Language analysis did not distinguish between PSP phenotypes.
Conclusions
Language disturbances distinguish PSP from PD and HC but were not able to discriminate PSP phenotypes.
{"title":"The discriminative linguistic profiles of progressive supranuclear palsy and Parkinson's disease","authors":"L. Busteed , A. Horta-Barba , A. Reig , C. García-Sánchez , B. Pascual-Sedano , I. Gich , P. Roy Ciffone , J. Kulisevsky , J. Pagonabarraga","doi":"10.1016/j.nrl.2023.06.010","DOIUrl":"10.1016/j.nrl.2023.06.010","url":null,"abstract":"<div><h3>Introduction</h3><div>Speech and language disturbances are very frequent in progressive supranuclear palsy (PSP). Therefore, they are part of the diagnostic criteria set forth by the International Parkinson and Movement Disorder Society (MDS) for the disease and are considered a core clinical feature. However, more studies are needed to characterize the linguistic profile of PSP, thus being able to assist in the differential diagnosis. Additionally, studies assessing linguistic differences among PSP phenotypes are needed. The objective of this study is to analyze the language alterations presented by patients with PSP, as well as its different phenotypes, and differentiate them from those presented in patients with Parkinson's disease (PD).</div></div><div><h3>Methods</h3><div>An extensive cognitive and linguistic assessment was administered to 13 PSP patients, 19 PD patients and 19 healthy controls (HC) with similar sociodemographic features. Language assessment included evaluation of: syntactic processing, object naming, and phonetic and semantic fluencies. We included a subgroup of 6 PSP patients, 19 PD patients and 19 HC for further analysis of language. This analysis included, in addition to the general evaluation, the assessment of alternating fluency, comprehension, naming, automatic speech, repetition, object recognition, verbal and written instructions, writing to dictation, and oral expression.</div></div><div><h3>Results</h3><div>We found greater impairment on phonetic, semantic, and alternating fluencies, following verbal instructions, repetition, syntactic processing and writing (without phonetic paragraphia) in the PSP group compared to patients with PD and HC. Distinguishing linguistic features of PSP with a less marked reduction than the previously mentioned features were automatic speech, fluency of speech, and naming. Language analysis did not distinguish between PSP phenotypes.</div></div><div><h3>Conclusions</h3><div>Language disturbances distinguish PSP from PD and HC but were not able to discriminate PSP phenotypes.</div></div>","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 9","pages":"Pages 830-839"},"PeriodicalIF":3.1,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145425462","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-11-01DOI: 10.1016/j.nrl.2023.07.002
I. Rivera , N. Fontanillas , L. Cadelo , J. Pascual
Objectives
To prospectively study the rate of consultation, diagnoses, burden and historical management patterns of those patients attending due to primary headache in Primary Care.
Patients and methods
We included 200 patients with primary headache in a semi-urban health center. To study the consultation impact, 100 patients were consecutively recruited in one Primary Care quota. For every patient we obtained demographic data, comorbidities, rate of consultation, absenteeism, impact in quality of life (MIDAS and HIT-6 scales) and previous patterns of referral and treatment.
Results
A total of 2.2% of the demand consultations were due to primary headache. Migraine (60%) was the most frequent reason, followed by tension-type headache (38.5%) and trigeminal autonomic headaches (1.5%). In 58% of cases the diagnosis was incomplete or incorrect. Between 33% (MIDAS) and 50.8% (HIT-6) of cases showed at least a moderate decrease in their quality of life, which was higher for migraine (40.8% and 72.5%, respectively). There was absenteeism in 12% of patients the last year (in 87.5% of cases due to migraine). More than half (57%) of cases had been referred to neurology and preventive treatments had been initiated in Primary Care in only 5.5% of patients.
Conclusions
Primary headaches, and mainly migraine, are a frequent reason for consultation in Primary Care. Even though migraine induces a significant absenteeism and damages quality of life, there is a clear room for improvement in their management. Primary headaches should be included in the health plans of Primary Care.
{"title":"Las cefaleas primarias como motivo de consulta en Atención Primaria: un estudio prospectivo","authors":"I. Rivera , N. Fontanillas , L. Cadelo , J. Pascual","doi":"10.1016/j.nrl.2023.07.002","DOIUrl":"10.1016/j.nrl.2023.07.002","url":null,"abstract":"<div><h3>Objectives</h3><div>To prospectively study the rate of consultation, diagnoses, burden and historical management patterns of those patients attending due to primary headache in Primary Care.</div></div><div><h3>Patients and methods</h3><div>We included 200 patients with primary headache in a semi-urban health center. To study the consultation impact, 100 patients were consecutively recruited in one Primary Care quota. For every patient we obtained demographic data, comorbidities, rate of consultation, absenteeism, impact in quality of life (MIDAS and HIT-6 scales) and previous patterns of referral and treatment.</div></div><div><h3>Results</h3><div>A total of 2.2% of the demand consultations were due to primary headache. Migraine (60%) was the most frequent reason, followed by tension-type headache (38.5%) and trigeminal autonomic headaches (1.5%). In 58% of cases the diagnosis was incomplete or incorrect. Between 33% (MIDAS) and 50.8% (HIT-6) of cases showed at least a moderate decrease in their quality of life, which was higher for migraine (40.8% and 72.5%, respectively). There was absenteeism in 12% of patients the last year (in 87.5% of cases due to migraine). More than half (57%) of cases had been referred to neurology and preventive treatments had been initiated in Primary Care in only 5.5% of patients.</div></div><div><h3>Conclusions</h3><div>Primary headaches, and mainly migraine, are a frequent reason for consultation in Primary Care. Even though migraine induces a significant absenteeism and damages quality of life, there is a clear room for improvement in their management. Primary headaches should be included in the health plans of Primary Care.</div></div>","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 9","pages":"Pages 849-854"},"PeriodicalIF":3.1,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145425490","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-11-01DOI: 10.1016/j.nrl.2023.04.007
M. Guasch-Jiménez , P. Camps-Renom , C. Toscano-Prat , D. Guisado-Alonso , A. Martínez-Domeño , L. Prats-Sánchez , A. Ramos-Pachón , I. Fernández-Cadenas , J.P. Martínez-González , I. Fernández-Pérez , C. Avellaneda-Gómez , E. de Celis-Ruiz , J. Rodríguez-Pardo , M. del Mar Freijo , A. Luna , F. Moniche , B. Pardo-Galiana , J. Ortega-Quintanilla , J.F. Arenillas , E. Cortijo , J. Martí-Fàbregas
Introduction
Dehydration in patients with acute ischemic stroke (AIS) is associated with poor outcome. Our aim is to investigate whether dehydration is associated with collateral circulation (CC) and functional outcome in patients with AIS treated with mechanical thrombectomy (MT).
Method
Prospective multicenter study of patients with anterior circulation AIS treated with MT (January 2020–June 2021). Dehydration was assessed with two formulas: plasma osmolarity and urea/creatinine (U/C) ratio. CC was quantified with an automated software (Brainomix Ltd.) on baseline computed tomography angiography. The primary outcome was the association between CC (expressed numerically as the percentage of change between hemispheres) and dehydration (osmolarity ≥295 mmol/L, U/C ≥80). Secondary outcomes included disability at discharge and at three months of follow-up, assessed using the modified Rankin scale (poor outcome: 3–6). Multivariable logistic and ordinal regression analyses were performed.
Results
Two hundred sixty patients were included. 65.8% were dehydrated according to osmolarity and 2.9% according to U/C. There was no association between CC score and dehydration [71% in dehydrated vs 73% in non-dehydrated; p = 0.875]. 64.3% of dehydrated patients vs. 46.7% of non-dehydrated patients had a poor outcome at discharge (p = 0.026). In multivariable logistic regression analysis, dehydration was an independent predictor of poor outcome at discharge (OR 2.50; p = 0.011) and at three months of follow-up (OR 2.27; p = 0.046).
Conclusions
Dehydration on admission is associated with poor outcome in patients with AIS treated with MT, but it is not related to CC.
急性缺血性卒中(AIS)患者脱水与不良预后相关。我们的目的是研究机械取栓(MT)治疗AIS患者的脱水是否与侧支循环(CC)和功能结局相关。方法对接受MT治疗的前循环AIS患者进行前瞻性多中心研究(2020年1月- 2021年6月)。脱水评估采用血浆渗透压和尿素/肌酐(U/C)比两种公式。在基线计算机断层血管造影上,使用自动化软件(Brainomix Ltd.)对CC进行量化。主要结局是CC(以半球间变化百分比表示)与脱水(渗透压≥295 mmol/L, U/C≥80)之间的关系。次要结局包括出院时和随访3个月时的残疾,使用改进的Rankin量表进行评估(差结局:3-6)。进行了多变量逻辑回归和有序回归分析。结果共纳入260例患者。渗透压脱水率为65.8%,U/C脱水率为2.9%。CC评分与脱水无关联[脱水71% vs非脱水73%;p = 0.875]。64.3%的脱水患者和46.7%的非脱水患者出院时预后较差(p = 0.026)。在多变量logistic回归分析中,脱水是出院时不良预后的独立预测因子(OR 2.50, p = 0.011)和随访3个月时(OR 2.27, p = 0.046)。结论接受MT治疗的AIS患者入院时脱水与预后不良相关,但与CC无关。
{"title":"Deshidratación, circulación colateral y pronóstico funcional en pacientes con ictus isquémico tratados mediante trombectomía mecánica","authors":"M. Guasch-Jiménez , P. Camps-Renom , C. Toscano-Prat , D. Guisado-Alonso , A. Martínez-Domeño , L. Prats-Sánchez , A. Ramos-Pachón , I. Fernández-Cadenas , J.P. Martínez-González , I. Fernández-Pérez , C. Avellaneda-Gómez , E. de Celis-Ruiz , J. Rodríguez-Pardo , M. del Mar Freijo , A. Luna , F. Moniche , B. Pardo-Galiana , J. Ortega-Quintanilla , J.F. Arenillas , E. Cortijo , J. Martí-Fàbregas","doi":"10.1016/j.nrl.2023.04.007","DOIUrl":"10.1016/j.nrl.2023.04.007","url":null,"abstract":"<div><h3>Introduction</h3><div>Dehydration in patients with acute ischemic stroke (AIS) is associated with poor outcome. Our aim is to investigate whether dehydration is associated with collateral circulation (CC) and functional outcome in patients with AIS treated with mechanical thrombectomy (MT).</div></div><div><h3>Method</h3><div>Prospective multicenter study of patients with anterior circulation AIS treated with MT (January 2020–June 2021). Dehydration was assessed with two formulas: plasma osmolarity and urea/creatinine (U/C) ratio. CC was quantified with an automated software (Brainomix Ltd.) on baseline computed tomography angiography. The primary outcome was the association between CC (expressed numerically as the percentage of change between hemispheres) and dehydration (osmolarity ≥295<!--> <!-->mmol/L, U/C ≥80). Secondary outcomes included disability at discharge and at three months of follow-up, assessed using the modified Rankin scale (poor outcome: 3–6). Multivariable logistic and ordinal regression analyses were performed.</div></div><div><h3>Results</h3><div>Two hundred sixty patients were included. 65.8% were dehydrated according to osmolarity and 2.9% according to U/C. There was no association between CC score and dehydration [71% in dehydrated vs 73% in non-dehydrated; <em>p</em> <!-->=<!--> <!-->0.875]. 64.3% of dehydrated patients vs. 46.7% of non-dehydrated patients had a poor outcome at discharge (<em>p</em> <!-->=<!--> <!-->0.026). In multivariable logistic regression analysis, dehydration was an independent predictor of poor outcome at discharge (OR 2.50; <em>p</em> <!-->=<!--> <!-->0.011) and at three months of follow-up (OR 2.27; <em>p</em> <!-->=<!--> <!-->0.046).</div></div><div><h3>Conclusions</h3><div>Dehydration on admission is associated with poor outcome in patients with AIS treated with MT, but it is not related to CC.</div></div>","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 9","pages":"Pages 822-829"},"PeriodicalIF":3.1,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145425461","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-11-01DOI: 10.1016/j.nrl.2023.04.010
F. Martínez-Valle , C. Casasnovas-Pons , M. Romero-Acebal , L. Galán-Dávila
Background
Autonomic dysfunction is a common manifestation of hereditary transthyretin (ATTRv) amyloidosis that frequently appears early and has a major impact on disease severity, survival, and quality of life. Early detection of autonomic symptoms is paramount to avoid delayed diagnosis or misdiagnosis of ATTRv amyloidosis and thereby achieve timely interventions with novel therapies. We thus require a better understanding and recognition of the warning signs of autonomic nervous system involvement in patients with ATTRv amyloidosis.
Development
According to the literature and the expertise of key opinion leaders on ATTRv amyloidosis, early signs and symptoms of autonomic dysfunction often include orthostatic hypotension, gastrointestinal disturbances, and cardiac and sudomotor sympathetic denervation. Assessment methods for a rapid and accurate diagnostic thus comprise blood pressure monitoring, nutritional status evaluation, cardiac imaging techniques, and pathological and neurophysiological tests assessing small fiber function. The COMPASS-31 and Norfolk QOL-DN tests allow assessment of the severity of autonomic dysfunction and its impact on quality of life, respectively.
Conclusion
The screening strategy for autonomic dysfunction should involve diverse neurological and non-neurological tests to encompass the wide variety of potential manifestations of autonomic dysfunction in ATTRv amyloidosis. Further studies addressing the correlations among different tests and their prognostic value in different TTR variants are required to establish a single standardized method or the minimum set of tests needed to assess autonomic dysfunction in ATTRv amyloidosis patients.
{"title":"Evaluation of autonomic dysfunction in hereditary transthyretin amyloidosis","authors":"F. Martínez-Valle , C. Casasnovas-Pons , M. Romero-Acebal , L. Galán-Dávila","doi":"10.1016/j.nrl.2023.04.010","DOIUrl":"10.1016/j.nrl.2023.04.010","url":null,"abstract":"<div><h3>Background</h3><div>Autonomic dysfunction is a common manifestation of hereditary transthyretin (ATTRv) amyloidosis that frequently appears early and has a major impact on disease severity, survival, and quality of life. Early detection of autonomic symptoms is paramount to avoid delayed diagnosis or misdiagnosis of ATTRv amyloidosis and thereby achieve timely interventions with novel therapies. We thus require a better understanding and recognition of the warning signs of autonomic nervous system involvement in patients with ATTRv amyloidosis.</div></div><div><h3>Development</h3><div>According to the literature and the expertise of key opinion leaders on ATTRv amyloidosis, early signs and symptoms of autonomic dysfunction often include orthostatic hypotension, gastrointestinal disturbances, and cardiac and sudomotor sympathetic denervation. Assessment methods for a rapid and accurate diagnostic thus comprise blood pressure monitoring, nutritional status evaluation, cardiac imaging techniques, and pathological and neurophysiological tests assessing small fiber function. The COMPASS-31 and Norfolk QOL-DN tests allow assessment of the severity of autonomic dysfunction and its impact on quality of life, respectively.</div></div><div><h3>Conclusion</h3><div>The screening strategy for autonomic dysfunction should involve diverse neurological and non-neurological tests to encompass the wide variety of potential manifestations of autonomic dysfunction in ATTRv amyloidosis. Further studies addressing the correlations among different tests and their prognostic value in different TTR variants are required to establish a single standardized method or the minimum set of tests needed to assess autonomic dysfunction in ATTRv amyloidosis patients.</div></div>","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 9","pages":"Pages 915-923"},"PeriodicalIF":3.1,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145425493","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-11-01DOI: 10.1016/j.nrl.2023.07.004
A. Rivero-de-Aguilar , M. Mascareñas-García , M. Pérez-Ríos , M.A. Llaneza-Gonzalez , P. Mulero , M. Mendibe , À. Rovira , V. Meca-Lallana , A.J. García-Ruiz , L. Landete , J.R. Vizoso Hermida , P. Carrascal Rueda , A. Ruano-Raviña , M. Puente-Hernandez , L. Varela-Lema
Introduction
In recent years there has been an increase in the number of disease-modifying drugs (DMDs) approved for multiple sclerosis (MS). The evidence of their safety and efficacy has been obtained through several phase III and IV clinical trials. Acquiring the skills for their appraisal is indispensable for clinicians to assess the most pertinent treatment for patients. The objective of this study is to provide guidance in the critical reading of these trials.
Methods
A three-round e-Delphi study was carried out. In the preparatory phase, a multidisciplinary expert panel was established. Panel members were selected based on their scientific credentials and experience, seeking to include people involved in MS diagnosis, treatment and research. A semi-open questionnaire was developed based on key generic and MS-specific methodological instruments identified through a scoping bibliographic search. The experts were required to identify essential aspects for critically appraising clinical trials on DMDs for MS.
Results
The expert panel consisted of nine independent leading Spanish experts with long-standing experience with MS (five neurologists, a neuroradiologist, a pharmacologist, a research methodologist and an MS community representative). The e-Delphi study resulted in consensus recommendations intended to help readers in answering five major questions: “Is the study free of bias?”; “Are the included patients adequate?”; “Are the outcome measures appropriate?”; “Are the results relevant?”; and “Is the study transparent?”.
Conclusion
This study proposes consensus recommendations intended to guide neurologists in the critical reading of phase III and IV clinical trials on DMDs for MS.
{"title":"Recommendations for the critical reading of clinical trials on disease-modifying drugs for multiple sclerosis","authors":"A. Rivero-de-Aguilar , M. Mascareñas-García , M. Pérez-Ríos , M.A. Llaneza-Gonzalez , P. Mulero , M. Mendibe , À. Rovira , V. Meca-Lallana , A.J. García-Ruiz , L. Landete , J.R. Vizoso Hermida , P. Carrascal Rueda , A. Ruano-Raviña , M. Puente-Hernandez , L. Varela-Lema","doi":"10.1016/j.nrl.2023.07.004","DOIUrl":"10.1016/j.nrl.2023.07.004","url":null,"abstract":"<div><h3>Introduction</h3><div>In recent years there has been an increase in the number of disease-modifying drugs (DMDs) approved for multiple sclerosis (MS). The evidence of their safety and efficacy has been obtained through several phase III and IV clinical trials. Acquiring the skills for their appraisal is indispensable for clinicians to assess the most pertinent treatment for patients. The objective of this study is to provide guidance in the critical reading of these trials.</div></div><div><h3>Methods</h3><div>A three-round e-Delphi study was carried out. In the preparatory phase, a multidisciplinary expert panel was established. Panel members were selected based on their scientific credentials and experience, seeking to include people involved in MS diagnosis, treatment and research. A semi-open questionnaire was developed based on key generic and MS-specific methodological instruments identified through a scoping bibliographic search. The experts were required to identify essential aspects for critically appraising clinical trials on DMDs for MS.</div></div><div><h3>Results</h3><div>The expert panel consisted of nine independent leading Spanish experts with long-standing experience with MS (five neurologists, a neuroradiologist, a pharmacologist, a research methodologist and an MS community representative). The e-Delphi study resulted in consensus recommendations intended to help readers in answering five major questions: “Is the study free of bias?”; “Are the included patients adequate?”; “Are the outcome measures appropriate?”; “Are the results relevant?”; and “Is the study transparent?”.</div></div><div><h3>Conclusion</h3><div>This study proposes consensus recommendations intended to guide neurologists in the critical reading of phase III and IV clinical trials on DMDs for MS.</div></div>","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 9","pages":"Pages 875-883"},"PeriodicalIF":3.1,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145425491","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-11-01DOI: 10.1016/j.nrl.2023.06.011
R. Piñar-Morales , P.A. Guirado Ruíz , F.J. Barrero Hernández
Introduction
Fatigue in multiple sclerosis (MS) is defined as the lack of physical and/or mental energy perceived by the individual that interferes with normal activities. It is the most common symptom in MS, present up to 90% of people with MS. Fatigue along with disability, depression, cognitive impairment, and disease-modifying therapy (DMT) affect quality of life (QoL).
Method
We designed a prospective observational study in patients with MS and DMT of moderate efficacy to assess the association between fatigue and the epidemiological, clinical, and pharmacological aspects that influence in the QoL. We analyzed variables related to patients, disability, fatigue (MFIS), clinical and radiological activity, depression (BDI), cognitive impairment (SDMT), and QoL (EQ-5D).
Results
We included 91 people, 65.9% women, mean age 43.9 years. The DMT were: 27.4% interferon-β, 15.38% glatiramer acetate, 9.89% teriflunomide, and 47.25% dimethyl fumarate. The median of the EDSS was 1.5 points. 40.9% have presented fatigue, 36.3% cognitive deterioration and 30.7% of the patients depression.
Conclusions
Patients with fatigue are older, more disabled, have a higher prevalence of depression and worse QoL. Evolution time, relapses, MRI lesion load, and DMTs are not associated with fatigue. Fatigue is a frequent symptom in patients with MS that influences in the QoL, hence the importance of its diagnosis and treatment.
{"title":"Impacto de la fatiga en la calidad de vida en los adultos con esclerosis múltiple remitente recurrente","authors":"R. Piñar-Morales , P.A. Guirado Ruíz , F.J. Barrero Hernández","doi":"10.1016/j.nrl.2023.06.011","DOIUrl":"10.1016/j.nrl.2023.06.011","url":null,"abstract":"<div><h3>Introduction</h3><div>Fatigue in multiple sclerosis (MS) is defined as the lack of physical and/or mental energy perceived by the individual that interferes with normal activities. It is the most common symptom in MS, present up to 90% of people with MS. Fatigue along with disability, depression, cognitive impairment, and disease-modifying therapy (DMT) affect quality of life (QoL).</div></div><div><h3>Method</h3><div>We designed a prospective observational study in patients with MS and DMT of moderate efficacy to assess the association between fatigue and the epidemiological, clinical, and pharmacological aspects that influence in the QoL. We analyzed variables related to patients, disability, fatigue (MFIS), clinical and radiological activity, depression (BDI), cognitive impairment (SDMT), and QoL (EQ-5D).</div></div><div><h3>Results</h3><div>We included 91 people, 65.9% women, mean age 43.9 years. The DMT were: 27.4% interferon-β, 15.38% glatiramer acetate, 9.89% teriflunomide, and 47.25% dimethyl fumarate. The median of the EDSS was 1.5 points. 40.9% have presented fatigue, 36.3% cognitive deterioration and 30.7% of the patients depression.</div></div><div><h3>Conclusions</h3><div>Patients with fatigue are older, more disabled, have a higher prevalence of depression and worse QoL. Evolution time, relapses, MRI lesion load, and DMTs are not associated with fatigue. Fatigue is a frequent symptom in patients with MS that influences in the QoL, hence the importance of its diagnosis and treatment.</div></div>","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 9","pages":"Pages 864-874"},"PeriodicalIF":3.1,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145425489","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-11-01DOI: 10.1016/j.nrl.2023.04.008
J. Arriagada Opazo , V. Farah González , M. González Delgadillo , L. Núñez-Franz , C. Morales Garcia , P. Jiménez Rodríguez
Background
An increasing trend has been observed in the prevalence of Multiple Sclerosis (MS) globally. It is estimated that a total of 2.8 million people live with MS worldwide. In 2008, Chile started a pilot program for the Modifying Therapy of MS, and its clinical practice guideline.
Aim
This study aims to analyze the trend of the MS mortality rate in Chile from 1997 to 2019 disaggregated by sex and latitude.
Methods
MS mortality data (ICD-10, G35) from 1997-2019 were extracted from the Department of Health Statistical Information and population data from the National Institute of Statistics. Standardized mortality rates (SMRs) by age were calculated. The trend of the SMR was analyzed using Joinpoint and with RiskDiff the effect of the risk of dying, the structure, and the size of the population on the crude mortality rate was evaluated.
Results
The trend of the TME has been decreasing significantly since 2005. When disaggregating by sex the decrease was not significant. According to latitude, the north and center south have a significant decreasing trend; in the south, the decreasing trend is not significant. There is an increase of 25% in the crude mortality rate due to the change in the structure of the population and a decrease of 25.46% is attributed to the risk of dying.
Conclusion
The SMR due to MS in Chile during 1997-2019 has decreased, in addition, a decreasing SMR is evidenced only in the northern zone. The crude rate has increased as a consequence of changes in the population, however, the risk of dying has decreased, especially in men.
{"title":"Tendencia de la mortalidad por esclerosis múltiple según sexo: Chile 1997-2019","authors":"J. Arriagada Opazo , V. Farah González , M. González Delgadillo , L. Núñez-Franz , C. Morales Garcia , P. Jiménez Rodríguez","doi":"10.1016/j.nrl.2023.04.008","DOIUrl":"10.1016/j.nrl.2023.04.008","url":null,"abstract":"<div><h3>Background</h3><div>An increasing trend has been observed in the prevalence of Multiple Sclerosis (MS) globally. It is estimated that a total of 2.8 million people live with MS worldwide. In 2008, Chile started a pilot program for the Modifying Therapy of MS, and its clinical practice guideline.</div></div><div><h3>Aim</h3><div>This study aims to analyze the trend of the MS mortality rate in Chile from 1997 to 2019 disaggregated by sex and latitude.</div></div><div><h3>Methods</h3><div>MS mortality data (ICD-10, G35) from 1997-2019 were extracted from the Department of Health Statistical Information and population data from the National Institute of Statistics. Standardized mortality rates (SMRs) by age were calculated. The trend of the SMR was analyzed using Joinpoint and with RiskDiff the effect of the risk of dying, the structure, and the size of the population on the crude mortality rate was evaluated.</div></div><div><h3>Results</h3><div>The trend of the TME has been decreasing significantly since 2005. When disaggregating by sex the decrease was not significant. According to latitude, the north and center south have a significant decreasing trend; in the south, the decreasing trend is not significant. There is an increase of 25% in the crude mortality rate due to the change in the structure of the population and a decrease of 25.46% is attributed to the risk of dying.</div></div><div><h3>Conclusion</h3><div>The SMR due to MS in Chile during 1997-2019 has decreased, in addition, a decreasing SMR is evidenced only in the northern zone. The crude rate has increased as a consequence of changes in the population, however, the risk of dying has decreased, especially in men.</div></div>","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 9","pages":"Pages 840-848"},"PeriodicalIF":3.1,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145425463","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}