Neurologia最新文献

{"title":"Heterogeneidad fenotípica y genotípica de una serie de casos con mutaciones asociadas a distonía que responde a la dopa","authors":"I. García Díaz ,&nbsp;E. Ortegón Aguilar ,&nbsp;G. Fernández Pajarín ,&nbsp;I. Cabo López ,&nbsp;D. Apolinar García Estevez ,&nbsp;B. Ares Pensado ,&nbsp;Á. Sesar Ignacio","doi":"10.1016/j.nrl.2023.09.003","DOIUrl":"10.1016/j.nrl.2023.09.003","url":null,"abstract":"<div><h3>Introduction</h3><div>Dopa-responsive dystonia (DRD) includes a group of neurological disorders that manifest with lower limb dystonia and an excellent response to levodopa. Parkinsonism is commonly associated with DRD, and many cases of <em>GCH1</em> gene mutations without dystonia but with evidence of nigrostriatal pathway degeneration, indistinguishable to idiopathic Parkinson's disease (PD), have been recently described. This phenotypic variability has been observed even among members of the same family.</div></div><div><h3>Method</h3><div>Clinical and genetic description of 14 patients from 4 different families with DRD associated mutations.</div></div><div><h3>Results</h3><div>The results showed <em>GCH1</em> mutations in three of the four families, while one family had a mutation in the <em>SPR</em> gene. Within patients with <em>GCH1</em> mutations, two showed DRD symptoms, five had PD phenotype, and four were asymptomatic. The only patient with <em>SPR</em> mutation clinically displayed symptoms of dystonia and parkinsonism. DaTscan® revealed degeneration of the nigroestriatal pathway in two PD patients. Furthermore, phenotypic variability of the same mutation was observed in two families.</div></div><div><h3>Conclusions</h3><div>DRD associated mutations have a heterogeneous clinical expression <em>GCH1</em> gene mutations can be manifested with PD phenotype along with the degeneration of the nigroestiatal pathway. Therefore, <em>GCH1</em> gene testing might be useful in cases of PD suggestive of genetic origin or with family history of dystonia.</div></div>","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"41 1","pages":"Article 101900"},"PeriodicalIF":3.1,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145886481","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":"Association between comorbidities and health-related quality of life in patients with multiple sclerosis","authors":"O. Mirmosayyeb ,&nbsp;M. Barzegar ,&nbsp;M. Rezaei ,&nbsp;S. Houshi ,&nbsp;A. Afshari-Safavi ,&nbsp;M. Falahatian ,&nbsp;N. Nehzat ,&nbsp;V. Shaygannejad","doi":"10.1016/j.nrl.2024.03.002","DOIUrl":"10.1016/j.nrl.2024.03.002","url":null,"abstract":"<div><h3>Purpose</h3><div>Multiple sclerosis (MS) is a debilitating disease accompanied by physical and mental comorbidities. Little is known about the relation between different comorbidities and health-related quality of life (HRQOL) in people with MS (pwMS). Therefore, we designed this study to assess the association between comorbidities and HRQOL.</div></div><div><h3>Methods</h3><div>In this cross-sectional study, of 976 pwMS attending the MS clinic of Kashani Hospital in Isfahan, Iran were assessed. The data on comorbidity were extracted from patients’ medical records. The 36-Item Short Form Survey (SF-36) was used to measure HRQOL. Firstly, the association between each comorbidity and HRQOL was assessed. Then, the comorbidities were categorized into physical, psychiatric, and autoimmune, and the association of each comorbidity group with HRQOL was evaluated.</div></div><div><h3>Results</h3><div>The mean (SD) age and disease duration were 37.58 (9.22) and 7.41 (5.24); most of them were female (82.8%) and had a relapsing course (77.1%). The most common comorbidity was migraine (13.6%), followed by hypothyroidism (13.5%), obsessive–compulsive disorder (OCD) (13.5%), and anemia (11.5%). There was a significant association between the physical component score (PCS) of HRQOL and reduced epilepsy, coronary artery disease, eye diseases, OCD, major depressive disorder (MDD), and borderline personality disorder. Regarding mental component (MCS), ovarian failure, polycystic ovary syndrome, OCD, and MDD had an association with low MCS. After categorization, both physical and psychiatric comorbidities were related to less PCS and MCS score. However, no significant association between autoimmune comorbidities and HRQOL was found.</div></div><div><h3>Conclusion</h3><div>Our results show a significant association between comorbidities and HRQOL in MS patients.</div></div>","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"41 1","pages":"Article 101901"},"PeriodicalIF":3.1,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145886482","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":"Impact of a perioperative protocol for Parkinson's disease patients on use of contraindicated drugs","authors":"P. Salgado-Cámara ,&nbsp;B. De la Casa-Fages ,&nbsp;A. Sánchez-Soblechero ,&nbsp;O. Mateo Sierra ,&nbsp;M.L. Martín-Barbero ,&nbsp;F. Grandas","doi":"10.1016/j.nrl.2023.11.011","DOIUrl":"10.1016/j.nrl.2023.11.011","url":null,"abstract":"<div><h3>Introduction</h3><div>During surgical admissions, the use of antidopaminergic drugs is associated with increased morbimortality and hospital stay in patients with Parkinson's disease (PD) and other parkinsonisms. We implemented a protocol to ensure adequate perioperative pharmacological management in our center, including educational sessions and complementary tools, such as an electronic Pharmacological Alert and a Patient Information Sheet.</div></div><div><h3>Objective</h3><div>The objective of this study was to analyze the changes in the prescription of contraindicated medications to PD or parkinsonism patients admitted for surgery, in the three years following implementation of the protocol, and to establish the compliance with the protocol among the medical staff involved in their hospital care over the same period.</div></div><div><h3>Methods</h3><div>This is an observational, analytical, prospective study with a before–after design.</div></div><div><h3>Results</h3><div>Prescription of contraindicated drugs decreased significantly over the study period (from 57.8% to 20.6%; <em>p</em> <!-->&lt;<!--> <!-->0.001). Patients without an activated Pharmacological Alert had a 13.31 times higher risk of being prescribed contraindicated drugs than patients with such an alert (<em>p</em> <!-->&lt;<!--> <!-->0.001). Neurologists and neurosurgeons used the protocol tools more than Emergency Department surgeons. There was very high compliance with the protocol in admissions for deep brain stimulation and related surgeries.</div></div><div><h3>Conclusions</h3><div>The protocol reduced the prescription of contraindicated drugs to PD and parkinsonism patients during their surgical admissions in our center. The Pharmacological Alert and Neurology clinics played a crucial role.</div></div>","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"41 1","pages":"Article 101897"},"PeriodicalIF":3.1,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145886406","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":"Sleep disturbances in patients with myasthenia gravis: A cross-sectional study","authors":"J. Yan ,&nbsp;K. Choi ,&nbsp;P. Fu ,&nbsp;J. Lin ,&nbsp;M. Gui ,&nbsp;Y. Li ,&nbsp;L. Luo ,&nbsp;Z. Hu ,&nbsp;B. Bu ,&nbsp;Z. Li","doi":"10.1016/j.nrl.2025.501925","DOIUrl":"10.1016/j.nrl.2025.501925","url":null,"abstract":"<div><h3>Objective</h3><div>To explore sleep dysfunction in clinically stable patients with myasthenia gravis (MG) and to identify sleep disturbances and uncover their associated risk factors.</div></div><div><h3>Methods</h3><div>A cross-sectional study was conducted, involving the recruitment of 306 patients with MG from three MG centers. Participants completed an online self-report questionnaire covering demographic variables, clinical characteristics, and assessments using the Pittsburgh Sleep Quality Index (PSQI) scale, STOP-Bang scale, Myasthenia Gravis Quality of Life 15 (MG-QOL 15) scale, Patient Health Questionnaire (PHQ-9), and Self-Rating Anxiety Scale (SAS), to evaluate sleep quality among patients with MG.</div></div><div><h3>Results</h3><div>Approximately 68% of patients with MG presented sleep disturbances (PSQI ≥6). Univariate analysis revealed that age, lower education level (≤12 years), being single, late disease onset (&gt;55 years old), generalized subtype, myasthenia crisis, positivity for AChR antibodies, thymoma, thymectomy, and type B thymoma were risk factors for sleep dysfunction in patients with MG. Within the sleep disturbances group, 51% of patients scored ≥3 on the STOP-Bang scale, indicating a higher risk of obstructive sleep apnea. PSQI global scores showed significant linear correlations with MG-QOL 15, STOP-Bang, PHQ-9, and SAS scores (<em>P</em> <!-->&lt;<!--> <!-->.001). Multivariate analysis revealed that sex, marital status, STOP-Bang score, SAS score, and MG-QOL 15 score were correlated with the PSQI score.</div></div><div><h3>Conclusion</h3><div>Sleep disturbances are prevalent among patients with MG, even in clinically stable cases. Psychological factors such as anxiety and health-related quality of life warrant increased attention in the management of these patients.</div></div>","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"41 1","pages":"Article 501925"},"PeriodicalIF":3.1,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145886483","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":"Brueghel syndrome: A missing entity. Case report","authors":"D. López Dominguez ,&nbsp;G. Álvarez Bravo","doi":"10.1016/j.nrl.2025.02.001","DOIUrl":"10.1016/j.nrl.2025.02.001","url":null,"abstract":"","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"41 1","pages":"Article 101895"},"PeriodicalIF":3.1,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145886486","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":"Neuropatía del VI nervio craneal debido a ecchordosis physaliphora: revisión de la literatura a propósito de un caso","authors":"V. Fernández-Rodríguez,&nbsp;J.M. Losada Domingo,&nbsp;A. Moreno-Estébanez,&nbsp;A. Rebollo Pérez","doi":"10.1016/j.nrl.2023.07.003","DOIUrl":"10.1016/j.nrl.2023.07.003","url":null,"abstract":"","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"41 1","pages":"Article 101887"},"PeriodicalIF":3.1,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145886484","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":"Adaptación y baremación de la versión española del Attention, Memory, and Frontal Abilities Screening Test (AMFAST) en población mayor de 55 años","authors":"J. Oltra-Cucarella ,&nbsp;B. Bonete-López ,&nbsp;E. Sitges-Maciá ,&nbsp;C. Iñesta ,&nbsp;M. Sánchez San-Segundo ,&nbsp;M. Berbegal Bernabeu ,&nbsp;M. Tomé Fernández ,&nbsp;A. Zaragoza-Martí ,&nbsp;B. Freilich ,&nbsp;J.A. Hurtado Sánchez","doi":"10.1016/j.nrl.2023.03.010","DOIUrl":"10.1016/j.nrl.2023.03.010","url":null,"abstract":"<div><h3>Introduction</h3><div>Screening tests are useful to identify cognitive impairments during aging. However, they need to assess different cognitive abilities and be easily accessible to researchers and clinicians. The objective of this work is to develop normative data for the population 55 years of age or older for the Attention, Memory, and Frontal Abilities Screening Test (AMFAST).</div></div><div><h3>Method</h3><div>One-hundred and fifty-five cognitively healthy participants between 55 and 82 years old were assessed both with a comprehensive neuropsychological battery and the AMFAST. The ability of the AMFAST to identify objective cognitive impairment in the neuropsychological assessment was analyzed using binary logistic regression, and sensitivity, specificity, and positive and negative predictive values were calculated. Normative data were developed using linear regression, controlling for the effects of age, gender, and educational level.</div></div><div><h3>Results</h3><div>The AMFAST total score was statistically associated with age and education, but not with sex. Using four or more low scores as the criterion for objective cognitive impairment, the AMFAST total score was associated with the number of low scores on the neuropsychological battery (<em>r</em> <!-->=<!--> <!-->−.33, <em>p</em> <!-->&lt;<!--> <!-->.001), as well as with objective cognitive impairment (OR<!--> <!-->=<!--> <!-->0.95, 95% CI: 0.92–0.98, <em>p</em> <!-->=<!--> <!-->.003). A total score lower than 74 was associated with sensitivity<!--> <!-->=<!--> <!-->85.71%, specificity <!--> <!-->=<!--> <!-->71.63%, positive predictive value<!--> <!-->=<!--> <!-->23.08%, and negative predictive value<!--> <!-->=<!--> <!-->98.06%.</div></div><div><h3>Conclusions</h3><div>As a simple and quick test, the AMFAST could help identify early objective cognitive impairment. Normative data of the Spanish adaptation of the AMFAST for its use in clinical and research are provided.</div></div>","PeriodicalId":19300,"journal":{"name":"Neurologia","volume":"40 9","pages":"Pages 813-821"},"PeriodicalIF":3.1,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145425495","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":"Serie de casos de epilepsia con mioclonías palpebrales","authors":"M. Henao-Pérez ,&nbsp;D.C. López-Medina ,&nbsp;A. Arboleda-Ramírez ,&nbsp;N.L. Patiño-Jaramillo ,&nbsp;J.F. Zapata-Berruecos ,&nbsp;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}

{"title":"Diagnóstico neuropsicológico diferencial en enfermedad de Alzheimer y demencia por cuerpos de Lewy: una revisión sistemática","authors":"T. Julio-Ramos ,&nbsp;V. Mora-Castelleto ,&nbsp;C. Foncea-González ,&nbsp;C. Adames-Valencia ,&nbsp;I. Cigarroa ,&nbsp;C. Méndez-Orellana ,&nbsp;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}

{"title":"Complex dystonia in an adolescent male with a MECP2 variant","authors":"R. Baviera-Muñoz ,&nbsp;T. Jaijo ,&nbsp;M. Campins-Romeu ,&nbsp;I. Martínez-Torres ,&nbsp;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}