Revista de neurologia最新文献

Myasthenia gravis (MG) is an autoantibody-mediated, cellular immune-dependent and complement system-involved autoimmune disorder characterized by acquired neuromuscular junction transmission dysfunction driven by genetic and environmental factors. Approximately 10% therapies such as cholinesterase inhibitors, glucocorticoids, and immunosuppressants, resulting in the development of refractory MG (RMG). The current emergence of new therapeutic strategies such as targeted biologics (e.g., complement inhibitors, Fc receptor (FcRn) antagonists, etc.), B-cell depletion therapy, and Chimeric Antigen Receptor (CAR)-T cell therapy contribute to the significant improvement in the clinical management of RMG. Accordingly, the present study systematically reviewed the treatment progress of RMG, aiming to provide evidence-based individualized treatment decision-making clinically, alleviate patients' pain, and explore future research directions.

Background: Nodding syndrome is a childhood-onset epileptic encephalopathy described in onchocerciasis-endemic regions of sub-Saharan Africa. Although characterized by recurrent atonic seizures with repetitive head-nodding movements, increasing evidence suggests that the condition extends beyond a purely motor epilepsy and involves progressive cognitive, behavioral, and emotional impairment.

Methods: This study was designed as a narrative review with a specific neuropsychological focus. A literature search was conducted in PubMed, Scopus, and Google Scholar for publications between 2013 and 2025. Studies describing cognitive, behavioral, emotional, psychiatric, neuroimaging, or neuropathological findings in patients with nodding syndrome were included. Due to heterogeneity in study design and assessment methods, findings were synthesized narratively.

Results: Across studies, nodding syndrome is consistently associated with progressive cognitive decline affecting attention, processing speed, executive functions, memory, and global intellectual functioning. Behavioral disturbances such as irritability, aggression, and emotional lability are frequently reported, alongside depressive symptoms and social withdrawal. Neuroimaging findings commonly demonstrate cortical and cerebellar atrophy, while neuropathological studies report tau-protein deposition and neuronal loss, supporting diffuse cerebral involvement with possible neurodegenerative features.

Conclusions: Nodding syndrome represents a complex epileptic encephalopathy characterized not only by seizures but also by significant cognitive, behavioral, and emotional impairment. A clearer neuropsychological characterization may inform clinical assessment and guide future research aimed at improving supportive and rehabilitative interventions.

Introduction: Headaches are the main reason for visits to Neurology clinics, and migraine is the most common primary headache. with migraine being the most frequent. Our objective was to develop a computer application (app) that could empower Primary Health Care (PHC) physicians in decision-making regarding migraine.

Material and methods: A rule-based artificial intelligence system was designed to process patients' responses to the ID-Migraine screener and subsequently determine whether they met the diagnostic criteria for migraine or tension-type headache, according to the International Headache Society. The application, known as CefaleApp, is designed to generate a diagnosis of migraine, tension-type headache, or mixed headache.

Results: CefaleApp was validated in 152 patients referred from PHC clinics with a suspected diagnosis of migraine or tension-type headache. Patients were evaluated in the Neurology Department of a secondary-level hospital and in two regional hospitals. Agreement between the diagnosis generated by CefaleApp and that issued by an expert headache neurologist (gold standard) was estimated using Cohen's Kappa index and the Matthews correlation coefficient (MCC). Overall diagnostic accuracy was 90.8% (95% CI: 85.1-94.6%), Cohen's Kappa index was 0.73 (95% CI: 0.59-0.87), and the MCC value was 0.73.

Conclusions: The migraine diagnosis generated by CefaleApp shows substantial-high agreement with that provided by the expert headache neurologist.

Background: Unilateral microelectrode-guided pallidotomy has re-emerged as a therapeutic option for advanced Parkinson's disease (PD), particularly in resource-limited settings. This study evaluated motor and neuropsychological outcomes following radiofrequency ablation of the internal globus pallidus (GPi) using image fusion and intraoperative microelectrode recording. To assess the motor efficacy, cognitive impact, and safety profile of unilateral GPi pallidotomy guided by neurophysiological monitoring in patients with advanced idiopathic PD of the rigid-akinetic subtype.

Methods: This retrospective, single-center, observational case series included 12 patients with advanced PD who underwent unilateral radiofrequency pallidotomy targeting the internal segment of the GPi. Movement Disorder Society-Unified PD Rating Scale Part III (MDS-UPDRS-III), including both contralateral and ipsilateral domain sub scores. Levodopa-induced dyskinesias (UPDRS-IV) and cognitive performance (NEUROPSI Attention and Memory battery) were also assessed before and 12 months after surgery. Statistical analyses were conducted using paired t-tests or Wilcoxon signed-rank tests depending on data distribution, with significance set at p < 0.05.

Results: At 12-month follow-up, motor outcomes improved significantly. Mean MDS-UPDRS-III scores decreased from 64.1 ± 27.1 preoperatively (OFF medication) to 37.8 ± 24.4 postoperatively, and from 23.5 ± 17.0 to 10.6 ± 8.5 in the ON state. The overall OFF-state improvement was 44.4% ± 21.2%. Paired t-tests confirmed a highly significant reduction in motor scores (t = 6.19, p < 0.0001; mean change -26.3 points, 95% confidence intervals (CI) -34.7 to -18.0). Domain-specific analysis showed significant contralateral improvements in rigidity (-48%, p = 0.0006), bradykinesia (-49.5%, p < 0.0001), resting tremor (-81%, p = 0.004), gait (-27.8%, p = 0.013), postural stability (-39%, p = 0.021), and dyskinesias (-56%, p = 0.017). Ipsilateral changes were mild and not statistically significant for rigidity (-14.6%, p = 0.519), bradykinesia (-25.0%, p = 0.084), or rest tremor (-50.0%, p = 0.121). No major surgical complications occurred. Neuropsychological assessment revealed modest postoperative gains in executive functioning and working memory, with preservation of global cognition.

Conclusion: Unilateral GPi pallidotomy guided by imaging and microelectrode recording is a safe and effective procedure that significantly improves motor symptoms while preserving cognitive function in appropriately selected patients with advanced PD, as demonstrated in our Guatemalan cohort.

Background: To evaluate the association of the purinergic receptor P2Y, G-protein coupled, 12 (P2Y12) gene polymorphisms with susceptibility to different etiological stroke subtypes.

Methods: A total of 459 first-ever acute ischemic stroke patients were classified into large-artery atherosclerosis (LAA, n = 163), small-vessel occlusion (SVO, n = 204), and cardioembolism (CE, n = 92) based on the Trial of Org 10172 in Acute Stroke Treatment (TOAST) criteria. Direct sequencing was used to screen these three stroke subtypes and non-stroke controls for P2Y12 polymorphisms: a T→C transition at 744 nucleotides (nt) downstream of intron 5's start site (i-T744C) and a C→T transition at 34 nt downstream of exon 2's start site (C34T). Based on the results of multivariate logistic analyses, a prediction model was established via a nomogram that incorporated genomic and clinical variables to quantify the risk of LAA stroke.

Results: Significant differences in the P2Y12 i-T744C genotype and allele frequencies were observed between LAA patients and controls. After adjusting for confounding factors, the dominant model (p = 0.009) and additive model (p = 0.023) revealed that the i-T744C polymorphism was significantly associated with increased susceptibility to LAA. No significant associations were found for the SVO and CE stroke subtypes. Moreover, the C34T polymorphism was not an independent factor for any stroke subtype. We further constructed a nomogram prediction model for LAA stroke based on genomic and clinical variables, including age, hypertension, smoking, high-density lipoprotein cholesterol, and the i-T744C polymorphism. This nomogram exhibited satisfactory accuracy and predictive power for LAA stroke, as demonstrated by the area under the curve, calibration plot, and decision curve analysis.

Conclusion: The P2Y12 i-T744C polymorphism may serve as a predictor for LAA stroke. Furthermore, we constructed a genomic-clinical nomogram that may be valuable for predicting LAA stroke risk in the study population.

Background: The aim of this study was to determine the use and safety of triptans in a group of patients with migraine who had excessive dispensings of antimigraine drugs.

Methods: This was a cross-sectional study of patients with excessive dispensings of triptans identified by a pharmaceutical manager. The DrugBank database was used to determine rational amounts of triptans.

Results: A total of 9147 patients used triptans, 44.6% of whom received excessive dispensings. A sample of 355 patients was selected, 22.8% of whom received regular doses of triptans daily. Adverse events were common (41.1%), and some patients experienced chronic headache (32.4%) and medication-overuse headache (MOH) (8.2%). Increasing age [adjusted odds ratio (aOR): 1.042; 95% confidence interval (CI): 1.008-1.077], a history of migraine for more than 10 years (aOR: 3.73; 95% CI: 1.37-10.16), previous dispensings of simple analgesics (aOR: 2.463; 95% CI: 1.001-6.057), and concomitant psychiatric illnesses (aOR: 3.583; 95% CI: 1.452-8.844) were associated with a higher probability of MOH.

Conclusions: In this study conducted in a middle- to low-income Latin American country, triptans were commonly dispensed for patients with migraine, and their dosage did not comply with the recommendations of clinical practice guidelines for some patients. Increasing age, history of migraine ≥10 years, previous use of simple analgesics, and the presence of concomitant psychiatric disorders were associated with a higher probability of MOH. These findings reflect prescribing and dispensing patterns within the studied health-care context and may not fully represent the use of over-the-counter triptans or practices in other settings.

Introduction: Risdiplam is a pharmacological agent developed for the treatment of spinal muscular atrophy (SMA) associated with 5q deletion, with the therapeutic objective of increasing the concentration of the survival motor neuron 2 protein. Most clinical trials and real-world studies have focused on pediatric and young adult populations. Our aim was to assess the effectiveness of risdiplam treatment in adult patients with SMA type IIb and III.

Methods: We studied 8 adult patients with SMA (3 females/5 males). Patient functionality was assessed using the Egen Klassifikation version 2 (EK2) scale, upper limb function with the 9-hole peg test (9HPT, seconds), and respiratory function with peak flow (L/min) and sniff nasal inspiratory pressure (SNIP, cmH₂O). Plasma levels of neurofilament light chain (NFL, pg/mL) and glial fibrillary acidic protein (GFAP, pg/mL) were also measured. Patients were evaluated at baseline, and after 6 and 12 months of treatment.

Results: The median age was 55 years (range: 41-66). At 12 months, EK2 scores showed a trend toward improvement in swallowing [item 16] (p = 0.06), peak flow increased significantly (244 ± 112 vs. 259 ± 124 L/min, p = 0.036), and there was a trend toward decreased NFL levels (11.4 ± 4.9 vs. 9.4 ± 2.7 pg/mL, p = 0.093). Both NFL and GFAP concentrations were negatively correlated with peak flow and SNIP values.

Conclusions: In our series, treatment with risdiplam may stabilize adult patients with type IIb-III SMA.

Background: There is considerable interest in the underlying mechanisms of cryptogenic stroke, with hypercoagulable states being widely studied. An elevated level of Factor VIII has been proposed as a potential prothrombotic marker associated with ischemic stroke. The aim of this study was to investigate the association between elevated Factor VIII levels and ischemic stroke and etiological subtype.

Subjects and methods: This retrospective observational study was conducted on subjects treated for ischemic stroke in the stroke unit of our institute between October 2018 and October 2023. Coagulative Factor VIII levels outside the acute phase (≥3 months) were measured, with elevated levels defined as >150%. Stroke etiologies (cryptogenic and non-cryptogenic: atherothrombotic, cardioembolic, lacunar, unusual, and coexistent causes), main cardiovascular risk factors, and prothrombotic biomarkers (protein C, protein S, antithrombin, anticardiolipin antibodies, anti-beta2-glycoprotein, lupus anticoagulant, and D-dimer) were recorded. Patients were categorized based on their level of coagulation Factor VIII (>150% vs. ≤150%). A comparative analysis was then conducted to assess differences associated with Factor VIII level.

Results: A total of 68 patients were included, with a median age of 50.3 ± 12.2 years and a predominance of males (66.2%). The most frequent etiology was cryptogenic stroke (54.4%), followed by atherothrombotic (13.2%) and unusual causes (11.8%). Elevated Factor VIII levels were observed in 41.2% of patients. No significant associations were found between elevated Factor VIII and cryptogenic stroke (p = 0.27), stroke subtype (p = 0.38), comorbidities, or other thrombophilia biomarkers. However, a weak correlation was observed between elevated Factor VIII and antithrombin levels outside the normal range (p = 0.039), and a significant association was found between Factor VIII levels and prior atrial fibrillation (AF, p = 0.04).

Conclusions: Although a high coagulation Factor VIII level was frequently observed in patients with ischemic stroke, this was not associated with cryptogenic stroke in the present cohort. Further studies with a larger sample size are warranted to clarify whether elevated Factor VIII is independently associated with ischemic stroke subtype, and whether elevated levels are a secondary finding related to inflammatory or systemic factors.

Background: Parkinson's disease (PD) is increasingly being diagnosed in older adults. Despite this trend, the clinical features of geriatric patients with PD are not thoroughly defined. This study aimed to compare the clinical characteristics of geriatric patients (aged ≥75 years) with de novo PD against those of non-geriatric patients (aged <75 years) newly diagnosed with PD.

Methods: This retrospective analysis enrolled 110 patients aged 50 years or older with de novo PD from our hospital's Parkinsonism registry between 2017 and 2023. Clinical evaluations included motor assessment via the Unified Parkinson's Disease Rating Scale Part III and global cognitive function was measured using the Montreal Cognitive Assessment (MoCA). Nonmotor symptoms, including depression, anxiety, and fatigue, were assessed using other scales and autonomic dysfunction was assessed using the Scale for Outcomes in Parkinson's Disease-Autonomic (SCOPA-AUT).

Results: Geriatric patients with PD (n = 37) exhibited significantly lower cognitive performance (lower MoCA scores, p < 0.001) and more pronounced autonomic dysfunction (higher SCOPA-AUT scores, p = 0.0103) in comparison with non-geriatric PD patients (n = 73). In multivariate logistic regression analysis, lower MoCA scores (odds ratio [OR]: 0.7642, 95% confidence interval [CI]: 0.6712-0.8701, p < 0.001) and elevated SCOPA-AUT scores (OR: 1.0640, 95% CI: 1.0031-1.1286, p = 0.0391) emerged as significant independent predictors of geriatric PD.

Conclusions: These findings reveal a distinct clinical phenotype among geriatric patients with de novo PD, underscoring the value of early detection and proactive management of cognitive and autonomic impairments in this group. The results further emphasize the need for individualized assessment and therapeutic interventions tailored to the specific requirements of geriatric patients with PD.