Acta neurologica Belgica最新文献

Background: The Prechtl's General Movement Assessment (GMA) is a widely accepted tool for predicting neurodevelopmental outcomes in infants. However, access to formal training in GMA is limited in low- and middle-income countries, such as Mexico. This study aimed to validate the Spanish version of the General Movement checklist (GMC), a tool designed to facilitate the evaluation of general movements, particularly for clinicians with limited experience.

Methods: An observational, cross-sectional study was conducted on infants with high neurological risk. The inter- and intra-observer reliability of GMC in its original version was analyzed using Cohen's kappa test. The checklist was translated and cross-cultural adapted to Spanish following international guidelines. Its internal consistency was assessed using Cronbach's alpha test. Content validity was determined by a panel of experts (the content validity index (CVI)), criterion and predictive validity were determined using the General Movement Optimality Score-Revised (GMOS-R) and the clinical diagnosis at 2 years corrected age. Receiver Operating Characteristic (ROC) curves were generated to identify the cut-off points on the GMC.

Results: Intra-observer reliability (Kappa = 0.91) and inter-observer reliability (Kappa = 0.75-1.0) demonstrated excellent agreement. Cronbach's alpha was 0.8579. Content validity was strong, with all items achieving a CVI > 0.7. Predictive validity showed high sensitivity (90%) and specificity (92%) when comparing checklist results with the clinical diagnosis.

Conclusions: The Spanish version of the GMC was validated as a reliable and valid tool to guide the early assessment of neurodevelopmental disorders in Mexican infants. Further studies are recommended to confirm these findings.

Objectives: Creutzfeldt-Jakob disease (CJD) is a transmissible neurodegenerative disorder with a fatal outcome. The present study investigated the difference on demographic, clinical and laboratory data between the patients with sporadic CJD (sCJD) and genetic CJD (gCJD).

Methods: Thirty-eight patients with CJD were enrolled in this study, including 28 patients with sCJD and 10 patients with gCJD. All patients were administered cognitive tests, brain magnetic resonance imaging (MRI), electroencephalogram (EEG), cerebrospinal fluid (CSF) 14-3-3 protein.

Results: The patients with sCJD had similar onset age, mean death and survival time to the patients with gCJD. There were slightly more males in the patients with sCJD than in the patients with gCJD (p = 0.095). The percentages of onset symptoms were similar between sCJD and gCJD groups. Patients with sCJD had more parkinsonism than patients with gCJD on neurological examinations (p = 0.037). The patients with gCJD also had slightly more disinhibitation than the patients with sCJD (p = 0.090). There were similar abnormalities percentages on MRI, EEG, and CSF 14-3-3 protein. The gCJD patients had more widespread cortex abnormalities involving the frontal, temporal, parietal and occipital lobe, compared with the sCJD patients (p = 0.012).

Conclusion: The patients with sCJD had similar epidemiological and clinical characteristics to the patients with gCJD, except more parkinsonism signs and less widespread cortex abnormalities on MRI.

Traumatic brain injury (TBI) is a leading cause of death and disability throughout the world. Despite significant advances in medical care, many TBI survivors continue to have cognitive, physical, and psychological deficits that have a significant impact on their quality of life. Neuromodulation techniques, which use electrical or magnetic stimulation to modulate brain activity, have shown promise in the treatment of TBI symptoms. The purpose of this narrative review is to provide an overview of the current state of neuromodulation techniques for TBI, such as transcranial magnetic stimulation, transcranial direct current stimulation, deep brain stimulation, and vagus nerve stimulation. This review summarizes the evidence for using these techniques, as well as their potential mechanisms of action and limitations. Additionally, the review discusses future research directions in this field, as well as the possibility of combining neuromodulation techniques with other interventions to improve outcomes for TBI patients.

Background: This study aimed to investigate the potential presence of brain disorders, particularly hypoxia, via magnetic resonance imaging (MRI) in patients misusing methadone, with a comparison to regular opium users and a control group.

Methods: Conducted as a cross-sectional comparative study at Kamali Hospital in Karaj, Iran, the research included male participants comprising methadone users, opium users, and controls. Inclusion criteria were stringent, focusing on substance use duration and absence of brain structural disorders. MRI scans were performed using a 1.5T MRI scanner. Qualitative MRI assessments and chi-square tests analyzed associations between substance use and hypoxia, while logistic regression examined potential confounding variables.

Results: Significant hypoxia was observed in the methadone group (16.7%, 5/24; p = 0.00057), with no cases in the opium or control groups. Logistic regression analysis showed no significant predictors of hypoxia regarding dose and duration of use. MRI findings in methadone users with hypoxia included varied ADC intensities, high signal intensities on T2-weighted and diffusion-weighted imaging (DWI) sequences, and angiogenesis patterns on TOF sequences. The co-use of methadone and alcohol was noted in three of the five hypoxia cases.

Conclusion: Methadone misuse, particularly with alcohol, poses a significant risk of hypoxia, detectable via MRI. This study underscores the need for routine MRI monitoring, stricter regulation of non-prescribed methadone, and enhanced public health education to mitigate misuse risks. Future research should expand sample sizes and incorporate advanced imaging techniques to further elucidate methadone's neurological impact.

Autonomic function is an integral part of the assessment of neurological disorders. However, pragmatically, it is often the most neglected part of neurological examination and is often limited to testing for orthostatic hypotension. Testing the autonomic nervous system may aid in the early diagnosis of neurodegenerative disorders, thereby enabling the initiation of neuroprotective strategies and resulting in improved quality of life in this group of patients. It may also enable differentiation between certain atypical parkinsonisms, such as Multiple System Atrophy and Dementia with Lewy Bodies, in which autonomic dysfunction is early and usually profound compared to Parkinson's disease. Our review focusses on the "first-line" autonomic function tests which can be done at the bedside and require use of minimal equipment and provide insights into cardiovascular, pupillary and sudomotor function. The use of minimal equipment underscores the value of these tests in resource-constrained settings as a major unmet need, thereby saving resources and avoiding delays in diagnosis and treatment.

Introduction: Myasthenia gravis (MG) can be classified according to clinical features into ocular MG (OMG) and generalised MG (GMG). However, OMG carries the risk of conversion to GMG. In this study, we aimed to determine the predictive factors for the secondary generalisation of OMG patients.

Methods: OMG patients followed-up in our hospital from January 1999 to November 2023 were retrospectively reviewed. Demographic and clinical characteristics data were collected from medical records. OMG patients with follow-up of < 2 years were excluded.

Results: Of the 122 patients included, 87 (71.3%) remained as OMG and 35 (28.7%) had converted to GMG. The median time taken for generalisation was 12 months (IQR 6-30). 73.5% of patients had converted to GMG within 2 years. In univariate analysis, a significantly higher proportion of patients with positive anti-AChR antibodies (94.1% vs. 67.1%, p = 0.002), higher antibody titre (8.0 vs. 1.6 nmol/L, p < 0.001), positive repetitive nerve stimulation (RNS) (54.5% vs. 15.9%, p < 0.001), positive single-fibre electromyography (96.7% vs. 76.0%, p = 0.013) and the presence of thymic abnormalities (35.3% vs. 3.5%, p < 0.001), specifically thymoma (29.4% vs. 1.2%, p < 0.001) were associated with secondary generalisation. Conversely, higher percentage of patients who were treated with corticosteroid remained as OMG (37.9% vs. 17.1%, p = 0.026). However, in multivariate analysis, only positive anti-AChR antibodies (OR_adj 9.6, 95% CI 1.7-56.1), positive RNS (OR_adj 4.0, 95% CI 1.3-12.5) and the presence of thymoma (OR_adj 29.5, 95% CI 2.5-351.1) were independently associated with secondary generalisation.

Conclusion: The presence of anti-AChR antibodies and thymoma with positive RNS were the predictive factors of secondary generalisation in OMG.

Foreign Accent Syndrome (FAS) is a rare and complex speech disorder characterized by the sudden emergence of a foreign accent, typically following neurological events such as strokes, traumatic brain injuries, or neurodegenerative diseases. This comprehensive review explores the pathophysiology, neuroimaging findings, and prevalence of FAS. Neuroimaging studies, including MRI and fMRI, reveal significant brain reorganization predominantly in the left hemisphere, involving regions such as the superior temporal gyrus and medial frontal structures. Functional connectivity disruptions and the phenomenon of dynamic diaschisis are discussed as potential mechanisms. Additionally, the review addresses the psychogenic aspects of FAS, highlighting the role of psychological factors and functional neurological disorders. The high comorbidity of FAS with other conditions underscores the need for a multidisciplinary diagnostic and therapeutic approach. This paper aims to enhance the understanding of FAS and contribute to the development of effective treatment strategies for this unique speech disorder.

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder characterized by loss of motor neurons and progressive muscle weakness. We aimed to identify the pathogenic genetic variants in familial ALS (fALS) pedigrees and to elucidate their impact on the disease phenotype. Through the analysis of whole-genome sequencing data of 34 fALS probands that screened negative for mutations in the most common ALS-causing genes, we identified a rare missense variant in APEX1 (NM_001641.4: c.22G > A, p.Gly8Arg) associated with ALS in one pedigree. Fluorescence microscopy images using green fluorescent protein (GFP)-fusion proteins suggested that this amino acid substitution could cause an impairment in nuclear localization of the protein. We described the clinical characteristics of this cohort analyzed and found that patients carrying this variant exhibit lower motor neuron onset and prolonged survival. The relation between APEX1 and ALS occurrence has been elusive despite evidence of a neuroprotective role for the gene. This study provides evidence linking an APEX1 variant with fALS and information on the distinct clinical manifestation. This study contributes to the understanding of the genetic basis of ALS, as well as a potential mechanism leading to loss of neurons, highlighting possible opportunities of targeted treatment harnessing the DNA repair process or ameliorating the oxidative stress.