Acta Neurologica Scandinavica最新文献

Objective: The association between cerebral small vessel disease (CSVD) and postischemic stroke outcomes has been reported in observational studies. This study is aimed at clarifying the causal relationship between genetic predispositions to CSVD phenotypes and functional recovery after ischemic stroke using Mendelian randomization (MR).

Methods: We employed instrumental variables derived from genome-wide association studies (GWAS) of individuals of European ancestry to represent magnetic resonance imaging (MRI)-detected CSVD phenotypes, including white matter hyperintensities, cerebral microbleeds, and perivascular spaces. Data on functional outcomes after ischemic stroke were obtained from the Genetics of Ischemic Stroke Functional Outcome (GISCOME) network. The primary analysis, conducted as a two-sample MR study, utilized the inverse-variance weighted approach, which was further supplemented by additional MR techniques in sensitivity analyses to validate the robustness of our findings. The Steiger directionality test was applied to evaluate the direction of the causal relationship.

Results: In the primary analysis, no significant causal associations were found between genetic markers for CSVD phenotypes and poor functional outcomes (modified Rankin Scale ≥ 3) following ischemic stroke. The odds ratios (95% confidence intervals) for the different phenotypes were as follows: 0.90 (0.49–1.64) for white matter hyperintensity volume, 1.12 (0.85–1.49) for cerebral microbleeds, 3.42 (0.79–14.85) for white matter perivascular spaces, 0.02 (0.01–6.08) for basal ganglia perivascular spaces, and 1.02 (0.01–249.21) for hippocampal perivascular spaces. Sensitivity analyses supported the reliability of these results, showing no evidence of statistical heterogeneity or directional pleiotropy. Furthermore, the Steiger directionality test confirmed the accuracy of the inferred causal directions between CSVD phenotypes and functional outcomes.

Conclusion: This MR study does not support a causal effect of genetic liability to CSVD phenotypes on functional outcomes after ischemic stroke. These findings suggest that current genetic evidence does not support a direct cause effect of CSVD phenotypes on recovery after ischemic stroke.

Background: Malnutrition is a frequent but underrecognized factor influencing prognosis in acute ischemic stroke (AIS) patients, particularly in intensive care settings. This study is aimed at evaluating the prognostic value of the controlling nutritional status (CONUT) score and the blood urea nitrogen/albumin (BUN/ALB) ratio on neurological outcomes and in-hospital mortality.

Methods: This retrospective cohort study included 208 AIS patients admitted to a neurology intensive care unit between 2020 and 2022. Nutritional status was assessed within 24–48 h using the CONUT score, calculated from serum albumin, total lymphocyte count, and cholesterol. The BUN/ALB ratio was used as an additional marker. Neurological outcomes were evaluated on day 60 using the modified Rankin Scale (mRS). Statistical analyses included univariate and multivariate logistic regression, Cox regression, ROC curve analysis, and Kaplan–Meier survival analysis.

Results: Higher CONUT scores and BUN/ALB ratios were significantly associated with poor neurological outcomes and increased in-hospital mortality. In multivariate analysis, both markers remained independent predictors of poor prognosis (CONUT OR = 3.8, p = 0.013; BUN/ALB OR = 7.4, p = 0.014). ROC analysis showed strong predictive value, especially for the CONUT score (AUC = 0.898 for progression; AUC = 0.860 for mortality).

Conclusion: Early assessment of nutritional status using CONUT and BUN/ALB ratio may help identify AIS patients at higher risk of poor outcomes. These cost-effective and easily obtainable markers can support clinical decision-making and improve prognostic accuracy in intensive care management.

Background: The complexity of intracranial tumours, both primary (originating in the brain or its supporting tissues) and secondary (metastases from other organs), presents significant challenges for diagnostic pathways. In Denmark, specific referral criteria (RCs) guide the diagnostic process for suspected intracranial tumours. This study is aimed at evaluating adherence to and efficacy of these RCs in detecting intracranial tumours.

Materials and Methods: We conducted a single-center, retrospective cohort analysis of patients from the North Denmark region referred by the general practitioner to magnetic resonance imaging (MRI) due to suspected intracranial tumours from 2013 to 2022. Medical records were reviewed to assess adherence to the Danish RC and their effectiveness in detecting tumours.

Results and Discussion: Among 2055 patients, intracranial tumours were identified in 207 cases (10%). Of these, 157 patients (11%) met the RC, while 50 patients (9%) did not meet the criteria. In the adherence group, tumour detection rates were 25% in patients with monosymptomatic focal neurological deficits, 20% with personality changes, 11% with seizures, 20% with headaches, and 24% in those presenting with more than one symptom. Regardless of RC adherence, intracranial tumours were identified in 43 out of 833 patients with headaches (5%). A prior history of cancer was documented in 253 cases, with a 12% tumour detection rate in these patients.

Conclusion: In summary, intracranial tumour was detected in about 1 out of 10 imaging studies when following the Danish RCs for the diagnostic pathway. Monosymptomatic headache was a frequent RC and intracranial tumour was found in 5% of these patients. A medical history of tumour slightly increased the detection rate of intracranial tumours.

Background: Cerebral small vessel disease (CSVD) often manifests with gait impairment, a critical yet overlooked aspect of early disease progression. Our study is aimed at leveraging wearable sensors and machine learning to analyse gait characteristics, providing a cost-effective and scalable method for early CSVD diagnosis.

Methods: We collected baseline and gait data from 115 individuals diagnosed with CSVD and 120 community healthy controls. All participants underwent a quantitative gait assessment utilizing the wearable device Ambulosono. The study applied an affordable digital 6-min walk test (6MWT) for standardized assessment, employing machine learning to build a prediction model.

Results: Traditional binary logistic regression statistical analysis revealed that the most distinguished gait thresholds during a 6-min walk were walking speed (≤ 70.34 m/min; sensitivity 0.625, specificity 0.791, AUC 0.760) and cadence (≤ 117.45; sensitivity 0.658, specificity 0.748, AUC 0.738). Gait variability was not statistically significantly different. Compared with traditional statistics, the machine learning model greatly improved the ability of gait characteristics to predict CSVD. We used a random forest model to train the selected features, and the AUC of the CSVD prediction mode increased from 0.83 to 0.94 (p = 0.006 DeLong’s test), with 82% accuracy, 78% specificity, 86% sensitivity, 79% precision, and an F1-score of 0.82.

Conclusions: Our findings underscore the innovative application of gait features and machine learning in CSVD diagnosis. The integration of the affordable digital 6MWT gait tool with machine learning represents a promising approach for early detection and large-scale population screening.

Introduction: Stroke is a condition demanding prompt treatment. Differentiating stroke cases from mimics poses a challenge in the prehospital setting. An optimal prehospital scale to identify stroke is still not available. The aims of the study were to (i) explore whether dysphagia, visual impairment, skin sensory loss, or combinations of these symptoms could improve diagnostic stroke accuracy beyond FAST (face, arm, speech, and time) scale and (ii) identify sex differences in stroke diagnostic models.

Materials and Methods: We included 319 patients with stroke or transient ischemic attack (TIA) and 119 stroke mimics in a 1-year period in 2013–2014 and 258 stroke/TIA cases and 90 mimics in a validation cohort in 2023, admitted to the Stroke Unit at the University Hospital of North Norway. Retrospective data on clinical presentations were collected from patient records.

Results: Stroke cases were older than mimics and a larger proportion were men. Age explained 7.5% of the variance in odds ratio (OR) for stroke in women and 1.7% in men, while hypertension or coronary heart disease explained 10.2% in women and 3.7% in men. Adding dysphagia to FAST increased OR for stroke from 3.95 (95% confidence interval (CI) 2.00–7.81) to 4.30 (95% CI 2.14–8.64) and explained variance in OR for stroke by 0.5% in women. Adding visual impairment to FAST increased OR from 5.72 (95% CI 2.74–12.0) to 7.69 (95% CI 3.50–16.9) and explained variance in OR for stroke by 1.9% in men. In the validation cohort, the explained variance in OR for stroke did not increase by adding any more clinical presentations to FAST. Stroke mimics accounted for 27.2% and 25.9% in the two cohorts.

Conclusions: By adding clinical presentations to FAST, no meaningful change in diagnostic performance was gained. An optimal scale for prehospital stroke identification is still needed.

Background: Focal hand dystonia (FHD) has a significant impact on the hand motor function, especially for writers and musicians. Recently, many neurosurgeons have used thalamotomy to treat refractory FHD; this systematic review is aimed at assessing the efficacy and safety of thalamotomy for FHD.

Methods: PubMed, Medline, and Embase were searched to select relevant studies concerning thalamotomy for FHD. Demographic characteristics, surgical parameters, efficacy, and safety were extracted.

Results:A systematic review was performed including 254 patients among 15 studies. The writer’s cramp rating scale (WCRS), writing movement scores (WMS), and symptom severity scores (SSS) were assessed for hand dystonia disability. Besides, Tubiana musician’s dystonia scale (TMDS) and task-specific focal hand dystonia’s scale (TSFD) were assessed for hand motor performance. Transient complications were reported in 48 patients (18.9%) with permanent complications occurring in nine cases (3.5%).

Conclusion: Thalamotomy is an alternative option for FHD. Thalamotomy can alleviate hand dystonia disability and improve hand motor function. Although thalamotomy has certain complications, the incidence of permanent complications is relatively low. Thalamotomy needs to be fully evaluated before surgery to ensure safety.

Sleep disorders are common in patients with epilepsy, affecting their quality of life. In this study, we aimed to explore the sleep structure of adult patients with epilepsy and determine its correlation with different degrees of obstructive sleep apnea-hypopnea syndrome (OSAHS). We also examined the impact of intermittent hypoxemia on nocturnal sleep structure, respiratory-related events, and excessive daytime sleepiness (EDS). This case–control polysomnography study included 81 patients with epilepsy and 86 healthy controls. Polysomnography combined with video electroencephalography was used to assess sleep structure, respiratory-related events, and factors related to EDS. Patients with epilepsy had a higher prevalence of sleep disorders, hypoxemia, and EDS than controls. Comorbid moderate-to-severe OSAHS was associated with increased risk of severe hypoxemia and awakening. Intermittent and mean hypoxemia worsened with increasing apnea-hypopnea index. The incidence of EDS increased drastically in patients with comorbid moderate-to-severe OSAHS. The total sleep period time was a significant independent predictor of the occurrence of EDS in patients with comorbid moderate-to-severe OSAHS. The study findings indicate that patients with epilepsy experience changes in sleep structure, and the coexistence of OSAHS increases the risk of hypoxemia and EDS. These findings are useful in clinical prognostication of patients with epilepsy comorbid with OSAHS.

Background: Vertigo is a highly prevalent symptom with wide-ranging causes and adverse consequences. While common risk factors for vertigo have been identified, their causal relationship with vertigo remains not fully known. Thus, identifying the modifiable factors causally related to vertigo is crucial for preventing vertigo.

Methods: A comprehensive Mendelian randomization study was employed to investigate the causal effects of vertigo among more than 40 genetically predicted modifiable risk factors, categorized into lifestyle traits, blood parameters, and metabolic comorbidities. This study used two different vertigo summary statistics from the deCODE and FinnGen consortia. Estimates were calculated using the inverse-variance weighted method and validated through alternative approaches.

Results: The results indicated that genetically predicted higher educational level was significantly associated with a decreased risk of vertigo (deCODE: odds ratio (OR) = 0.757, 95% CI = 0.697–0.822, p_{FDR[false discover rate]} < 0.001; FinnGen: OR = 0.796, 95%CI = 0.703–0.901, p_FDR = 0.007), while genetically predicted longer television watching was significantly associated with an increased risk of vertigo (deCODE: OR = 1.193, 95%CI = 1.076–1.323, p_FDR = 0.011; FinnGen: OR = 1.269, 95%CI = 1.085–1.483, p_FDR = 0.030). Additionally, genetically predicted elevated levels of alanine transaminase (ALT) were positively associated with the risk of vertigo. Genetically predicted increased physical activity was suggestively related to a reduced risk of vertigo, while higher triglyceride, body mass index (BMI), and diastolic blood pressure (DBP) were suggestively associated with an increased risk of vertigo (p_raw < 0.05).

Conclusions: Our findings indicate that genetically predicted increased educational levels and physical activity were associated with a decreased risk of vertigo, while higher levels of ALT and triglycerides, television watching time, BMI, and DBP were positively associated with the risk of vertigo. Thus, modifying these factors would decrease the risk of vertigo.

Background: Dysregulation of microRNA expression emerges as a crucial factor in the pathogenesis of autoimmune diseases, and their importance in modulating immune responses and disease progression is evident.

Methods: This study investigated the expression patterns of miRNAs in the brain tissues of C57BL/6J mice using the experimental autoimmune encephalomyelitis (EAE) model, which mimics multiple sclerosis (MS). The model was treated with Oenothera biennis oil, a potential therapeutic agent.

Results: Our research has revealed a novel and significant likelihood of association between miR-182-5p, miR-200c-3p, miR-206-3p, miR-429-3p, miR-1298-5p, and diseases resembling the EAE model, such as MS. This groundbreaking discovery could have profound implications in diagnosing and treating autoimmune diseases that mimic the EAE animal model.

Conclusions: These miRNAs, identified in our study, might serve as potential therapeutic targets in MS, potentially leading to more effective treatments and improved patient outcomes.

Objective: This study is aimed at elucidating the prognostic utility of somatosensory evoked potentials (SEPs) N20 in the recovery of upper limb functionality among stroke patients with varying cerebral lesions.

Methods: A cohort of 60 stroke patients enrolled in this study and stratified into two groups: 30 patients with strokes affecting the basal ganglia and 30 with thalamic involvement. Each patient underwent an SEP test after admission and participated in rehabilitation training for 3 months. Assessments were carried out using the Fugl–Meyer Assessment for Upper Extremity (FMA-UE), the Modified Ashworth Scale (MAS), and the Modified Barthel Index (MBI) at admission and 3 months after treatment to analyze the correlation between SEP-N20 indices and the function assessment scales in the two groups.

Results: (1) SEP in stroke patients revealed notable abnormalities, in which a more pronounced reduction of the amplitude ratio of the N20 (SEPAR-N20) wave between the affected and unaffected sides was observed in the thalamus group (p < 0.05). (2) After 3 months, a significant positive correlation was established between the improvement rate of FMA-UE scores and SEPAR-N20 in the basal ganglia group (r = 0.696, p < 0.0001). Conversely, this correlation was not evident within the thalamus group (r = −0.157, p > 0.05). (3) There was no significant correlation between MAS or MBI scores and SEPAR-N20 in either group (p > 0.05).

Conclusion: The extent of SEP abnormality poststroke is associated with the location of the lesion. Strokes involving the thalamus exhibited more pronounced changes in the N20 component. SEPAR-N20 might serve as a valuable predictor for the recovery of upper limb functionality, particularly in cases of basal ganglia strokes.

Trial Registration: Chinese Clinical Trial Registry: ChiCTR2300075570