Neurologia最新文献

{"title":"Neuropsychological performance and disease burden in individuals at risk of developing Huntington disease","authors":"F. Paz-Rodríguez ,&nbsp;M. Chávez-Oliveros ,&nbsp;A. Bernal-Pérez ,&nbsp;A. Ochoa-Morales ,&nbsp;L. Martínez-Ruano ,&nbsp;A. Camacho-Molina ,&nbsp;Y. Rodríguez-Agudelo","doi":"10.1016/j.nrleng.2024.01.006","DOIUrl":"10.1016/j.nrleng.2024.01.006","url":null,"abstract":"<div><h3>Introduction</h3><p>Huntington disease (HD) is a hereditary neurodegenerative disorder. Thanks to predictive diagnosis, incipient clinical characteristics have been described in the prodromal phase.</p></div><div><h3>Objective</h3><p>To compare performance in cognitive tasks of carriers (HDC) and non-carriers (non-HDC) of the huntingtin gene and to analyse the variability in performance as a function of disease burden and proximity to the manifest stage (age of symptom onset).</p></div><div><h3>Method</h3><p>A sample of 146 participants in a predictive diagnosis of HD programme were divided into the HDC (41.1%) and non-HDC groups (58.9%). Mathematical formulae were used to calculate disease burden and proximity to the manifest stage in the HDC group; these parameters were correlated with neuropsychological performance.</p></div><div><h3>Results</h3><p>Significant differences were observed between groups in performance on the Mini–Mental State Examination (MMSE), Stroop-B, Symbol-Digit Modalities Test (SDMT), and phonological fluency. In the HDC group, correlations were observed between disease burden and performance on the MMSE, Stroop-B, and SDMT. The group of patients close to the manifest stage scored lowest on the MMSE, Stroop-B, Stroop-C, SDMT, and semantic verbal fluency. According to the multivariate analysis of covariance, the MMSE effect shows statistically significant differences in disease burden and proximity to onset of symptoms.</p></div><div><h3>Conclusions</h3><p>Members of the HDC group close to the manifest phase performed more poorly on tests assessing information processing speed and attention. Prefrontal cognitive dysfunction appears early, several years before the motor diagnosis of HD.</p></div>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"39 2","pages":"Pages 127-134"},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2173580824000221/pdfft?md5=dbd1293899d67f78ab166d37589a4bf4&pid=1-s2.0-S2173580824000221-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139565361","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Visual snow syndrome and its relationship with migraine","authors":"O. Barrachina-Esteve ,&nbsp;I. Hidalgo-Torrico ,&nbsp;C. Acero ,&nbsp;S. Aranceta ,&nbsp;D. Cánovas-Vergé ,&nbsp;G. Ribera","doi":"10.1016/j.nrleng.2021.05.012","DOIUrl":"10.1016/j.nrleng.2021.05.012","url":null,"abstract":"<div><h3>Introduction</h3><p>Visual snow syndrome (VSS) is a central nervous system disorder that consists of the constant perception of small black and white dots throughout the entire visual field.</p></div><div><h3>Development</h3><p>VSS can present from infancy to old age, with greater prevalence in the young population, and shows no difference between sexes. The diagnostic criteria include the presence of visual snow and such other visual phenomena as palinopsia, photophobia, nyctalopia, and other persistent visual phenomena. The pathophysiology of VSS is unknown, but hyperexcitability of the visual cortex and a dysfunction in higher-order visual processing are postulated as potential mechanisms. The prevalence of migraine among patients with VSS is high, compared to the general population, and symptoms are more severe in patients presenting both conditions. No effective treatment is available, but the drug with the best results is lamotrigine, which is recommended only in selected cases with severe functional limitation.</p></div><div><h3>Conclusions</h3><p>VSS is a little-known and underdiagnosed entity, but the increasing number of studies in recent years has made it possible to establish diagnostic criteria and begin studying its pathophysiology. This entity is closely related to migraine, with overlapping symptoms and probably shared pathophysiological mechanisms.</p></div>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"39 2","pages":"Pages 190-195"},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2173580823000469/pdfft?md5=44bcdbff71126e2fa4919286cebc67d5&pid=1-s2.0-S2173580823000469-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9836647","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Euthanasia and assisted suicide in neurological diseases: a systematic review","authors":"J.M. Trejo-Gabriel-Galán","doi":"10.1016/j.nrleng.2024.01.007","DOIUrl":"10.1016/j.nrleng.2024.01.007","url":null,"abstract":"<div><h3>Objective</h3><p>To identify the neurological diseases for which euthanasia and assisted suicide are most frequently requested in the countries where these medical procedures are legal and the specific characteristics of euthanasia in some of these diseases, and to show the evolution of euthanasia figures.</p></div><div><h3>Methods</h3><p>We conducted a systematic literature review.</p></div><div><h3>Results</h3><p>Dementia, motor neuron disease, multiple sclerosis, and Parkinson’s disease are the neurological diseases that most frequently motivate requests for euthanasia or assisted suicide. Requests related to dementia constitute the largest group, are growing, and raise additional ethical and legal issues due to these patients’ diminished decision-making capacity. In some countries, the ratios of euthanasia requests to all cases of multiple sclerosis, motor neuron disease, or Huntington disease are higher than for any other disease.</p></div><div><h3>Conclusions</h3><p>After cancer, neurological diseases are the most frequent reason for requesting euthanasia or assisted suicide.</p></div>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"39 2","pages":"Pages 170-177"},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2173580824000233/pdfft?md5=210bad3894f165e0b740016646cd39f2&pid=1-s2.0-S2173580824000233-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139565356","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Consensus statement of the Spanish Society of Neurology on the treatment of multiple sclerosis and holistic patient management in 2023","authors":"J.E. Meca-Lallana ,&nbsp;S. Martínez Yélamos ,&nbsp;S. Eichau ,&nbsp;M.Á. Llaneza ,&nbsp;J. Martín Martínez ,&nbsp;J. Peña Martínez ,&nbsp;V. Meca Lallana ,&nbsp;A.M. Alonso Torres ,&nbsp;E. Moral Torres ,&nbsp;J. Río ,&nbsp;C. Calles ,&nbsp;A. Ares Luque ,&nbsp;L. Ramió-Torrentà ,&nbsp;M.E. Marzo Sola ,&nbsp;J.M. Prieto ,&nbsp;M.L. Martínez Ginés ,&nbsp;R. Arroyo ,&nbsp;M.Á. Otano Martínez ,&nbsp;L. Brieva Ruiz ,&nbsp;M. Gómez Gutiérrez ,&nbsp;C. Oreja-Guevara","doi":"10.1016/j.nrleng.2024.01.003","DOIUrl":"10.1016/j.nrleng.2024.01.003","url":null,"abstract":"<div><p>The last consensus statement of the Spanish Society of Neurology’s Demyelinating Diseases Study Group on the treatment of multiple sclerosis (MS) was issued in 2016. Although many of the positions taken remain valid, there have been significant changes in the management and treatment of MS, both due to the approval of new drugs with different action mechanisms and due to the evolution of previously fixed concepts. This has enabled new approaches to specific situations such as pregnancy and vaccination, and the inclusion of new variables in clinical decision-making, such as the early use of high-efficacy disease-modifying therapies (DMT), consideration of the patient’s perspective, and the use of such novel technologies as remote monitoring.</p><p>In the light of these changes, this updated consensus statement, developed according to the Delphi method, seeks to reflect the new paradigm in the management of patients with MS, based on the available scientific evidence and the clinical expertise of the participants.</p><p>The most significant recommendations are that immunomodulatory DMT be started in patients with radiologically isolated syndrome with persistent radiological activity, that patient perspectives be considered, and that the term “lines of therapy” no longer be used in the classification of DMTs (&gt; 90% consensus). Following diagnosis of MS, the first DMT should be selected according to the presence/absence of factors of poor prognosis (whether epidemiological, clinical, radiological, or biomarkers) for the occurrence of new relapses or progression of disability; high-efficacy DMTs may be considered from disease onset.</p></div>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"39 2","pages":"Pages 196-208"},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2173580824000191/pdfft?md5=3486490c52ce0f386b3bd1ab89ff01f1&pid=1-s2.0-S2173580824000191-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139492900","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Basilar web and basilar fenestration: a case report","authors":"J.M. Fernández-Vidal ,&nbsp;M. Guasch-Jiménez ,&nbsp;I. Ruiz-Barrio ,&nbsp;B. Gómez-Ansón ,&nbsp;M. Tecame ,&nbsp;J. Martí-Fàbregas","doi":"10.1016/j.nrleng.2024.01.010","DOIUrl":"10.1016/j.nrleng.2024.01.010","url":null,"abstract":"","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"39 2","pages":"Pages 209-210"},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2173580824000270/pdfft?md5=3b3c7f239cfde77a9fa49675407da144&pid=1-s2.0-S2173580824000270-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139673991","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Fatigue in patients with acquired brain damage","authors":"A. Juárez-Belaúnde ,&nbsp;E. Orcajo ,&nbsp;S. Lejarreta ,&nbsp;P. Davila-Pérez ,&nbsp;N. León ,&nbsp;A. Oliviero","doi":"10.1016/j.nrleng.2024.01.008","DOIUrl":"10.1016/j.nrleng.2024.01.008","url":null,"abstract":"<div><p>Fatigue is a complex, multidimensional syndrome that is prevalent in patients with acquired brain damage and has a negative impact on the neurorehabilitation process. It presents from early stages after the injury, and may persist over time, regardless of whether sequelae have resolved. Fatigue is conditioned by upper neuronal circuits, and is defined as an abnormal perception of overexertion. Its prevalence ranges from 29% to 77% after stroke, from 18% to 75% after traumatic brain injury, and from 47% to 97% after brain tumours. Fatigue is associated with factors including female sex, advanced age, dysfunctional families, history of specific health conditions, functional status (eg, fatigue prior to injury), comorbidities, mood, secondary disability, and the use of certain drugs. Assessment of fatigue is fundamentally based on such scales as the Fatigue Severity Scale (FSS). Advances have recently been made in imaging techniques for its diagnosis, such as in functional MRI. Regarding treatment, no specific pharmacological treatment currently exists; however, positive results have been reported for some conventional neurorehabilitation therapies, such as bright light therapy, neurofeedback, electrical stimulation, and transcranial magnetic stimulation. This review aims to assist neurorehabilitation professionals to recognise modifiable factors associated with fatigue and to describe the treatments available to reduce its negative effect on patients.</p></div>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"39 2","pages":"Pages 178-189"},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2173580824000245/pdfft?md5=e4fe402e9ee92c3e4127df31dc9c05ad&pid=1-s2.0-S2173580824000245-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139566999","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Spanish normative studies (NEURONORMA-Plus project): norms for the Delis Kaplan-Design Fluency Test, Color Trails Test, and Dual Task","authors":"G. García-Escobar ,&nbsp;C. Pérez-Enríquez ,&nbsp;C. Arrondo-Elizarán ,&nbsp;B. Pereira-Cuitiño ,&nbsp;L. Grau-Guinea ,&nbsp;M. Florido-Santiago ,&nbsp;J. Piqué-Candini ,&nbsp;R.M. Manero ,&nbsp;A. Puig-Pijoan ,&nbsp;J. Peña-Casanova ,&nbsp;G. Sánchez-Benavides","doi":"10.1016/j.nrleng.2021.05.013","DOIUrl":"10.1016/j.nrleng.2021.05.013","url":null,"abstract":"<div><h3>Introduction</h3><p>Complex attention and non-verbal fluency tasks are used in neuropsychological assessments with the aim of exploring subdomains of executive function. The purpose of this study is to provide norms and age-, education-, and sex-adjusted data for the Delis Kaplan-Design Fluency Test (DK-DFT), Color Trails Test (CTT), and Dual Task (DT) as part of the NEURONORMA-Plus project.</p></div><div><h3>Methods</h3><p>The sample included 308 cognitively unimpaired individuals aged between 18 and 92 years. Raw scores were converted to age-adjusted scaled scores. These were further converted into education- and sex-adjusted scaled scores by applying linear regression, with 2 age groups (&lt; 50 and ≥ 50 years).</p></div><div><h3>Results</h3><p>Overall, age had a negative impact on DK-DFT and CTT performance. We observed a positive effect of education on DK-DFT scores only in the older group (≥ 50 years). Moreover, younger men performed slightly better in the basic condition of this test. Education was positively associated with all CTT scores in both age groups, with the exception of the CTT-1 subtest in the younger group. Age and education did not influence DT performance, whereas sex did, with young women performing slightly better.</p></div><div><h3>Conclusions</h3><p>These normative data may be useful in the interpretation of neuropsychological assessments in the Spanish population.</p></div>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"39 2","pages":"Pages 160-169"},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2173580823000470/pdfft?md5=09409ffc0675d2f753a79095724f40a7&pid=1-s2.0-S2173580823000470-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9931368","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Osmotic demyelination syndrome amidst COVID-19: A case report with literature review","authors":"G. Dimitrov ,&nbsp;D. Naeva ,&nbsp;R. Duparinova ,&nbsp;S. Stratieva ,&nbsp;V. Manev ,&nbsp;K. Prinova","doi":"10.1016/j.nrleng.2023.11.001","DOIUrl":"https://doi.org/10.1016/j.nrleng.2023.11.001","url":null,"abstract":"","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"39 2","pages":"Pages 213-217"},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2173580824000294/pdfft?md5=9275149de6890ce325febcfdee45091a&pid=1-s2.0-S2173580824000294-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140051877","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Theory of mind in neurodevelopmental disorders: beyond autistic spectrum disorder","authors":"A. Pérez-Vigil ,&nbsp;D. Ilzarbe ,&nbsp;B. Garcia-Delgar ,&nbsp;A. Morer ,&nbsp;M. Pomares ,&nbsp;O. Puig ,&nbsp;S. Lera-Miguel ,&nbsp;M. Rosa ,&nbsp;M. Romero ,&nbsp;R. Calvo Escalona ,&nbsp;L. Lázaro","doi":"10.1016/j.nrleng.2024.01.005","DOIUrl":"10.1016/j.nrleng.2024.01.005","url":null,"abstract":"<div><h3>Introduction</h3><p>Theory of mind (ToM) is the human ability to perceive, interpret, and attribute the mental states of other people, and the alteration of this cognitive function is a core symptom of autistic spectrum disorder (ASD). In such other neurodevelopmental disorders as childhood-onset obsessive-compulsive disorder (OCD) and Tourette syndrome (TS) that can present with cognitive dysfunctions, ToM has been less extensively studied, especially in the young population. The aim of the study was to compare advanced ToM between groups of young people diagnosed with OCD, TS, or ASD and a control group.</p></div><div><h3>Methods</h3><p>Clinical interviews were conducted with male patients aged between 11 and 17 years with a main diagnosis of OCD (n = 19), TS (n = 14), or ASD (n = 18), and a control group (n = 20). We administered instruments for estimating intelligence quotient and severity of psychiatric symptoms, and tasks to evaluate ToM (the \"Stories from everyday life\" task and the \"Reading the mind in the eyes” test).</p></div><div><h3>Results</h3><p>Young people with TS and with ASD present similar difficulties in solving advanced ToM tasks, whereas patients with childhood-onset OCD present similar results to controls.</p></div><div><h3>Conclusions</h3><p>ToM is altered in other neurodevelopmental disorders beyond ASD, such as TS.</p></div>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"39 2","pages":"Pages 117-126"},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S217358082400021X/pdfft?md5=517afa6d5223152467181c7b7e48f553&pid=1-s2.0-S217358082400021X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139565368","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Benign episodic unilateral mydriasis: case report, topographic and clinical approach","authors":"Valeria Valencia-Cifuentes ,&nbsp;Jairo A. Quiñones","doi":"10.1016/j.nrleng.2024.01.009","DOIUrl":"10.1016/j.nrleng.2024.01.009","url":null,"abstract":"","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"39 2","pages":"Pages 211-213"},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2173580824000269/pdfft?md5=3d82f39db8ce3d44d83e43a24206434c&pid=1-s2.0-S2173580824000269-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139682230","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}