Revista de neurologia最新文献

{"title":"[XVI Post-ECTRIMS Meeting: review of the new developments presented at the 2023 ECTRIMS Congress (II)].","authors":"O Fernández, X Montalbán, E Agüera, Y Aladro, A Alonso, R Arroyo, L Brieva, C Calles, L Costa-Frossard, S Eichau, J M García-Domínguez, M A Hernández, L Landete, M Llaneza, S Llufriu, J E Meca-Lallana, V Meca-Lallana, E Moral, J M Prieto, Ll Ramió-Torrentà, N Téllez, L Romero-Pinel, A Vilaseca, A Rodríguez-Antigüedad","doi":"10.33588/rn.7902.2024174","DOIUrl":"10.33588/rn.7902.2024174","url":null,"abstract":"<p><p>The XVI Post-ECTRIMS meeting was held in Seville on 20 and 21 October 2023, where expert neurologists in multiple sclerosis (MS) summarised the main new developments presented at the ECTRIMS 2023 congress, which took place in Milan from 11 to 13 October. The aim of this article is to summarise the content presented at the Post-ECTRIMS Meeting, in an article in two parts. This second part covers the health of women and elderly MS patients, new trends in the treatment of cognitive impairment, focusing particularly on meditation, neuroeducation and cognitive rehabilitation, and introduces the concept of fatigability, which has been used to a limited extent in MS. The key role of digitalization and artificial intelligence in the theoretically near future is subject to debate, along with the potential these technologies can offer. The most recent research on the various treatment algorithms and their efficacy and safety in the management of the disease is reviewed. Finally, the most relevant data for cladribine and evobrutinib are presented, as well as future therapeutic strategies currently being investigated.</p>","PeriodicalId":21281,"journal":{"name":"Revista de neurologia","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141559630","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}

{"title":"[XVI Post-ECTRIMS Meeting: review of the new developments presented at the 2023 ECTRIMS Congress (I)].","authors":"O Fernández, X Montalbán, E Agüera, Y Aladro, A Alonso, R Arroyo, L Brieva, C Calles, L Costa-Frossard, S Eichau, J M García-Domínguez, M A Hernández, L Landete, M Llaneza, S Llufriu, J E Meca-Lallana, V Meca-Lallana, E Moral, J M Prieto, Ll Ramió-Torrentà, N Téllez, L Romero-Pinel, A Vilaseca, A Rodríguez-Antigüedad","doi":"10.33588/rn.7901.2024170","DOIUrl":"10.33588/rn.7901.2024170","url":null,"abstract":"<p><p>The XVI Post-ECTRIMS meeting took place in Seville on 20 and 21 October 2023. This meeting was attended by neurologists specialising in multiple sclerosis (MS) from Spain, who shared a summary of the most interesting innovations at the ECTRIMS congress, which had taken place in Milan the previous week. The aim of this article is to summarise new developments related to the pathogenesis, diagnosis and prognosis of MS. The contributions of innate immunity and central nervous system resident cells, including macrophages and microglia in MS pathophysiology and as therapeutic targets were discussed. Compartmentalised intrathecal inflammation was recognised as central to understanding the progression of MS, and the relationship between inflammatory infiltrates and disease progression was highlighted. Perspectives in demyelinating pathologies were reviewed, focusing on neuromyelitis optica and myelin oligodendrocyte glycoprotein antibody-associated disease, highlighting their pathophysiological and diagnostic differences compared to MS. Advances in neuroimaging were also discussed, and especially the analysis of active chronic lesions, such as paramagnetic rim lesions. In the absence of clinical improvements in trials of remyelinating treatments, methodological strategies to optimise the design of future studies were proposed. Breakthroughs in detecting the prodromal phase of MS, the use of biomarkers in body fluids to assess activity, progression and treatment response, and research on progression independent of flares were addressed. The need to define criteria for radiologically isolated syndrome and to clarify the concept was also discussed.</p>","PeriodicalId":21281,"journal":{"name":"Revista de neurologia","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141459049","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}

{"title":"[Paresis of an upper extremity. Action observation and motor imagery in recovery of patients with chronic stroke].","authors":"G Valadez-Roque, J Cantillo-Negrete, R I Carino-Escobar, A Torres-Chávez","doi":"10.33588/rn.7811.2024017","DOIUrl":"10.33588/rn.7811.2024017","url":null,"abstract":"<p><strong>Introduction: </strong>Action observation (AO) and motor imagery (MI) are considered functionally equivalent forms of motor representation related to movement execution (ME). Because of their characteristics, AO and MI have been proposed as techniques to facilitate the recovery of post-stroke hemiparesis in the upper extremities.</p><p><strong>Patients and methods: </strong>An experimental, longitudinal, prospective, single-blinded design was undertaken. Eleven patients participated, and were randomly assigned to each study group. Both groups received 10 to 12 sessions of physical therapy. Five patients were assigned to the control treatment group, and six patients to the experimental treatment group (AO + MI). All were assessed before and after treatment for function, strength (newtons) and mobility (percentage) in the affected limb, as well as alpha desynchronisation (8-13 Hz) in the supplementary motor area, the premotor cortex and primary motor cortex while performing AO + MI tasks and action observation plus motor execution (AO + ME).</p><p><strong>Results: </strong>The experimental group presented improvement in function and strength. A negative correlation was found between desynchronisation in the supplementary motor area and function, as well as a post-treatment increase in desynchronisation in the premotor cortex of the injured hemisphere in the experimental group only.</p><p><strong>Conclusions: </strong>An AO + MI-based intervention positively impacts recovery of the paretic upper extremity by stimulating the supplementary motor area, a cortex involved in movement preparation and learning. AO + MI therapy can be used as adjunctive treatment in patients with upper extremity paresis following chronic stroke.</p>","PeriodicalId":21281,"journal":{"name":"Revista de neurologia","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141176256","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}

{"title":"Memory and language risk assessment with Wada test in patients candidates for epilepsy surgery.","authors":"E Jaramillo-Jiménez, J D Hoyos-Rubio, M E Jiménez-Jaramillo, M Torres-Bustamante, J F Zapata-Berruecos, J S Carvajal-Castrillón, J Yepes-Paz, J R Rincones-Pérez, A Arboleda-Ramírez","doi":"10.33588/rn.7811.2024029","DOIUrl":"10.33588/rn.7811.2024029","url":null,"abstract":"<p><strong>Aim: </strong>To determine post-surgical cognitive risk and associated factors according to lesion location in a sample of patients evaluated for epilepsy surgery with Wada test at the Fundacion Instituto Neurologico de Colombia.</p><p><strong>Materials and methods: </strong>An observational, retrospective, analytical study was completed in patients with drug-resistant temporal lobe epilepsy candidates for epilepsy surgery treated from 2001 to 2021, who completed the Wada test as part of the pre-surgical evaluation. A descriptive analysis of sociodemographic, clinical, imaging and neuropsychological variables was completed; a multivariate logistic regression was performed analyzing factors associated with resection risk in patients with left lesions. RESULTS A total of 369 patients were included, 54.74% of the cases were women, with a median age of seizure onset of 11 years. 92.66% of the cases had lesional epilepsy and 68.56% were secondary to hippocampal sclerosis. Left hemisphere was the most frequently affected (65.68%) being dominant for memory and language in most of the patients with a proportion of 42.82% and 81.3%, respectively. The median functional adequacy was 43.75 (IQR 0-75) and the functional reserve was 75 (IQR 25 -93.75). In 104 patients, the Wada test determined a resection risk. In patients with a left lesion, it was found that functional reserve (PRadjusted 0.99, CI 95% 0.9997-0.9998) and having a right hemispheric dominance for memory (PRadjusted 0.92, CI 95% 0.547-0.999) were protective factors for post-surgical resection risk.</p><p><strong>Conclusion: </strong>Wada test is a useful tool for surgical decision-making in patients with drug-resistant temporal lobe epilepsy. When considering cognitive risk, components such as memory dominance and functional reserve should be considered as protective factors for postsurgical cognitive function preservation in patients with left lesions.</p>","PeriodicalId":21281,"journal":{"name":"Revista de neurologia","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141176199","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}

{"title":"[X-linked intellectual disability syndrome with macrocephaly due to BRWD3 gene deletion].","authors":"I Arroyo-Carrera, R Romero-Peguero, R Martín-Fernández, A Ramajo-Polo, V García-Navas Núñez","doi":"10.33588/rn.7811.2024057","DOIUrl":"10.33588/rn.7811.2024057","url":null,"abstract":"<p><strong>Introduction: </strong>Pathogenic variants in BRWD3 gene have been described as a rare cause of syndromic X-linked intellectual disability. Its phenotype shows neurodevelopmental delay with intellectual disability in all reported patients, facial dysmorphic features, macrocephaly, overgrowth and obesity. The great majority of cases yield point variants in the gene, only three large deletions including only the BRWD3 gene have been reported. The BRWD3 protein is an epigenetic reader that regulates chromatin remodeling. We report a boy with a compatible phenotype and a deletion including only this gene.</p><p><strong>Case report: </strong>Boy, without family and perinatal pathological background, with neurodevelopmental delay: psychomotor delay, speech delay and intellectual disability, macrocephaly (p > 99) and obesity. Phenotype with facial dysmorphic features: wide forehead, deep set eyes, bulbous nose, prominent ears and pointed chin. The array-CGH analysis showed a 586 kb deletion at Xq21.1 including only one gene with associated disorder, BRWD3. Afterwards, the deletion was also identified in his asymptomatic mother and sister.</p><p><strong>Conclusions: </strong>Our patient confirms that the haploinsufficiency due to BRWD3 deletion is a causal genetic mechanism of the BRWD3-related syndromic X-linked intellectual disability. It is important to recognize the phenotype for the diagnosis and follow up of the patients, and also to carry out the family genetic analysis in order to identify and give genetic counselling to the women who also have the genetic defect, because the majority of them are asymptomatic, as the mother and sister of our patient.</p>","PeriodicalId":21281,"journal":{"name":"Revista de neurologia","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141176198","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}

{"title":"[Usefulness of the Beck depression inventory in the diagnosis of depressive disorders in multiple sclerosis].","authors":"E Aparicio-Castro, A Candeliere-Merlicco, C María Santa, R Villaverde-González","doi":"10.33588/rn.7811.2024092","DOIUrl":"10.33588/rn.7811.2024092","url":null,"abstract":"<p><strong>Introduction: </strong>Depression is one of the most prevalent psychiatric conditions in adulthood, reaching figures of around 20%. The methodologies used to study depression are varied, and range from a self-administered test to structured psychiatric assessment. Several studies of patients with multiple sclerosis (MS) have been conducted in the last 20 years, and figures of around 35% have been found for depressive symptoms, while depressive disorders are less frequent, at approximately 21%.</p><p><strong>Aims: </strong>The aim of this study is to evaluate the usefulness of patient self-reported scales such as the Beck depression inventory (BDI) for identifying depressive symptoms in patients with MS, and to analyse their correlation with the diagnosis of clinical depression or depressive disorder using the psychiatric clinical interview based on the criteria of the Diagnostic and statistical manual of mental disorders, fifth edition.</p><p><strong>Patients and methods: </strong>This is a multicentre descriptive cross-sectional study of patients with MS and depressive symptoms. The BDI and the Hamilton depression rating scale (HDRS) were used, and the patients with the highest scores underwent psychiatric assessment.</p><p><strong>Results: </strong>A total of 191 patients were included; 81 of these (40.5%) had depressive symptomatology in the pathological range according to the BDI (cut-off point of 14), and 20 had a severe score (above 28). Nineteen patients with severe depressive symptoms according to both scales were selected and finally evaluated by a psychiatrist, who also assessed five patients who according to the neurologist had severe depressive symptoms despite a BDI score of almost 28, but did not reach that level. The suspected major depressive disorder was confirmed in only four (21%) cases with BDI scores indicative of severe symptoms. There is no correlation between the severity score as evidenced by the BDI and the psychiatric assessment. A major depressive disorder was diagnosed in 16 (66.6%) of the 24 patients with BDI > 26 evaluated by psychiatry. A score above 26 on the BDI enables identification of 75% of cases of depressive disorder without subtyping. The correlation between the HDRS and the BDI was statistically significant (r = 0.8; p < 0).</p><p><strong>Conclusions: </strong>The BDI is a useful screening test for identifying patients with depressive symptoms; in specific terms, a score above 26 is probably indicative of a depressive disorder that may benefit from psychiatric assessment.</p>","PeriodicalId":21281,"journal":{"name":"Revista de neurologia","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141176197","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}

{"title":"Reduction of plasma CGRP levels in migraine patients treated with erenumab or galcanezumab.","authors":"D A García-Estévez, A Juanatey-García, J Rodríguez-Garrido, N Sabbagh-Casado, G Jaime-Sánchez, L Blanco-García","doi":"10.33588/rn.7810.2023317","DOIUrl":"10.33588/rn.7810.2023317","url":null,"abstract":"","PeriodicalId":21281,"journal":{"name":"Revista de neurologia","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140922994","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}

{"title":"Prevalence of basilar artery dolichoectasia in patients with acute ischemic stroke or transient ischemic attack in a single center of Spain.","authors":"A F Costa, A Peral, F Bravo, F Fernández, R Valverde","doi":"10.33588/rn.7810.2023298","DOIUrl":"https://doi.org/10.33588/rn.7810.2023298","url":null,"abstract":"<p><strong>Introduction: </strong>Basilar artery dolichoectasia (BADE) refers to abnormal enlargement or displacement of the basilar artery (BA). The previously reported prevalence of BADE among patients with stroke is 0.3 to 33.1%, however, it might vary among studied populations. We aim is to determine the prevalence of BADE in patients presenting with acute ischemic stroke (AIS) or transient ischemic attack (TIA) in a Stroke Unit in a single center in Spain.</p><p><strong>Patients and methods: </strong>Patients 50 years old or older presenting with AIS or TIA were eligible for inclusion. Demographic and clinical data were prospectively collected. Two neuroradiologists, blind to each other, assessed BA morphology.</p><p><strong>Results: </strong>Among 126 patients, 34.1% fulfilled the criteria for BADE (ectasia or dolichosis). BADE was associated with advanced age (p = 0.04). Patients with fetal-type circle of Willis presented smaller BA diameters (2.9 ± 0.1 vs. 3.5 ± 0.1; p < 0.001), whereas patients with lacunar strokes presented a greater diameter than other stroke subtypes (3.8 ± 0.3 mm vs. 3.3 ± 0.1 mm; p = 0.04).</p><p><strong>Discussion and conclusions: </strong>In this single-center study of patients presenting with AIS or TIA, the prevalence of BADE (ectasia or dolichosis) is high. Further studies focusing on Spaniards should confirm our results.</p>","PeriodicalId":21281,"journal":{"name":"Revista de neurologia","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140923080","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}

{"title":"[Phenotypic and genotypic spectrum of KMT2B dystonia. Description of three Colombian patients].","authors":"J L Ramón-Gómez, O Bernal-Pacheco, A M Zarante-Bahamón, N Martínez-Córdoba, I Lince-Rivera","doi":"10.33588/rn.7810.2023279","DOIUrl":"10.33588/rn.7810.2023279","url":null,"abstract":"<p><strong>Introduction: </strong>KMT2B-related dystonia is a childhood-onset movement disorder characterized by focal dystonia of the lower extremities progressing to generalized dystonia with predominant cervical, cranial, and laryngeal involvement. So far, fewer than 100 variants have been reported, the vast majority being de novo mutations. The presenting frame of KMT2B dystonia, with dysmorphology features and other complex neurologic symptoms shows the spectrum of KMT2B dystonia as a probable syndromic disease, rather than an isolated early-onset dystonia, which has been the classic view of the condition.</p><p><strong>Case reports: </strong>We report three patients who presented regression in their neurodevelopment, focal dystonia of the lower limbs with subsequent generalization, in whom two de novo variants were reported in the KMT2B gene, with a mean age of presentation lower than the average reported worldwide.</p><p><strong>Conclusions: </strong>We describe the largest local series of patients with KMT2B dystonia in Colombia (to our knowledge), which allows us to expand the genotype-phenotype relationship of this genetic dystonia. Although many affected individuals follow a similar disease course, it is important to determine clinical features that may be associated such as neurodevelopmental regression.</p>","PeriodicalId":21281,"journal":{"name":"Revista de neurologia","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140923061","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}

{"title":"[Risk of epilepsy after a first epileptic seizure with unknown etiology in elderly patients].","authors":"S López-Maza, L Abraira, E Bellido-Castillo, S Lallana, D Campos-Fernández, E Fonseca, M Quintana, E Santamarina, A Rovira, S Sarria-Estrada, M Toledo-Argany","doi":"10.33588/rn.7810.2024055","DOIUrl":"10.33588/rn.7810.2024055","url":null,"abstract":"<p><strong>Aim: </strong>Patients whose epilepsy begins with seizures with unknown etiology in old age have been studied to a limited extent. The aim is to clinically characterise these patients, and predict their risk of developing epilepsy in the long term.</p><p><strong>Materials and methods: </strong>This is a retrospective observational study of patients over 55 years old experiencing a first epileptic seizure with unknown etiology. The data were collected from their clinical history, including electroencephalogram (EEG) and brain magnetic resonance imaging (MRI) results.</p><p><strong>Results: </strong>Eighty-seven patients (58.6% male; 71.5 ± 8.1 years) were included. The mean follow-up was 7.3 ± 4.9 years. The most common vascular risk factor was arterial hypertension (77%; n = 67). Focal seizures with altered consciousness were the most frequent type of seizure (44.8%; n = 39), followed by focal seizures evolving to bilateral tonic-clonic seizures (39.1%; n = 34). Brain MRI showed cortical atrophy (50%; n = 42) and signs of small-vessel vascular disease (SVVD) (67.8%; n = 57). Interictal epileptiform EEG abnormalities were observed in 43.7% (n = 38) of the patients, mostly with temporal localisations (94.7%; n = 36). 44.8% (n = 39) had mild cognitive impairment at baseline. Recurrence of seizures, which was observed in 49 patients (56.1%), occurred after a median of 12 months (interquartile range: 4.4-25.9). Finally, 71 patients (81.6%) developed epilepsy.</p><p><strong>Conclusion: </strong>The risk of epilepsy in the long term following a single seizure of unknown etiology in elderly patients is greater than 80%. Arterial hypertension and mild cognitive impairment at baseline are the most common clinical features. Cortical atrophy and the presence of SVVD are frequent in MRI, and routine EEGs do not usually show epileptiform alterations.</p>","PeriodicalId":21281,"journal":{"name":"Revista de neurologia","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140923063","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}