Journal of the Neurological Sciences最新文献

Background: Cognitive impairment occurs frequently in persons with multiple sclerosis (PwMS) at some point in the course of the disease. However, not all PwMS develop cognitive difficulties suggesting a role for important moderating factors. We examined baseline predictors of cross-sectional and longitudinal change in cognitive performance in PwMS.

Methods: 680 PwMS enrolled in the Comprehensive Longitudinal Investigation of Multiple Sclerosis at the Brigham and Women's Hospital who completed the Symbol Digit Modalities Test (SDMT), a brief measure of speed of information processing, at least twice during a 10-year period were identified. Potential baseline demographic (age, education, and sex), clinical (disability, disease duration, and disease category), and patient-reported outcome (PRO) (fatigue, depression, and quality of life) predictors were examined in cross-sectional analyses using linear regression and in longitudinal analyses using linear mixed effects models.

Results: In cross-sectional analyses, age, disease duration, and disability each showed associations with SDMT. Group differences were observed between females and males, subjects with and without college degrees, and subjects with relapsing and progressive MS. All PRO measures showed associations with SDMT, and the strongest association was with fatigue. In the longitudinal model, increased baseline age and increased baseline disability were each associated with a greater decline in SDMT performance. None of the baseline PROs were associated with longitudinal change in SDMT.

Conclusion: We observed strong associations between baseline demographic, clinical, and PRO measures and concurrent SDMT, but more limited associations between these measures and longitudinal change in SDMT.

Background: Motor neuron disease (MND) is a heterogeneous neurodegenerative disorder, with nearly 50 % of patients exhibiting cognitive and behavioral symptoms in addition to motor decline. Anxiety and depression, though frequently observed in this population, have been understudied in relation to motor and extra-motor profiles.

Objectives: Our study addresses this gap by validating the Hospital Anxiety and Depression Scale for Motor Neuron Disease (HADS-MND) and investigating the interplay between mood, clincial, and frontotemporal symptoms in a large sample of MND patients.

Methods: A total of 249 MND patients underwent clinical, genetic, and neuropsychological assessments. The validity, reliability, sensitivity, and specificity of the HADS-MND global score and subscores were explored. Correlation analyses and group comparisons tested the link between mood, motor and extra-motor profiles.

Results: The bidirectional structure of the HADS-MND was confirmed, but receiver operating characteristics analysis suggests caution for clinical use of the anxiety and depression subscales. The global HADS-MND score is recommended as a measure of psychological distress, with a cut-off point of 10 detecting 38 % of patients with altered scores. Moderate symptoms of anxiety and depression were present in 14 % and 11 % of cases, respectively. Depressive mood was higher in women, patients with frontotemporal symptoms, and severe motor-functional disabilities. Depressive and/or anxiety symptoms were linked to loneliness, behavioral changes, emotional dysregulation, and poor quality of life. Cognitive efficiency was not associated with mood.

Conclusion: Mood disorders appeared independent of cognitive profiles but related to behavioral changes. This is particularly relevant for clinicians discussing end-of-life decisions with patients.

Background: Acute encephalopathy is a severe condition predominantly affecting children with viral infections. The purpose of this study was to elucidate the epidemiology, treatment, and management of acute encephalopathy. The study also aimed to understand how the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic has affected epidemiological trends.

Methods: This retrospective study used the database of the Febrile Acute Convulsion and Encephalopathy registry, a prospective multicenter consecutive case registry for acute encephalopathy and febrile convulsive status epilepticus. Pediatric patients aged 0-18 years hospitalized and diagnosed with acute encephalopathy between January 2020 and August 2023 were included in this study.

Results: Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) was the most common syndrome (36 cases, 27.5 %). SARS-CoV-2 was the most common pathogen (19 cases, 14.5 %), followed by influenza virus type A (15 cases, 11.5 %). Targeted temperature management was performed for 25 (69.4 %) of 36 patients with AESD; 5 (50.0 %) of 10 patients with hemorrhagic shock and encephalopathy; and only 1 (5.9 %) of 17 patients with mild encephalitis or encephalopathy with a reversible splenial lesion (MERS). High-dose corticosteroids were administered to 9 (90.0 %) of 10 patients with hemorrhagic shock and encephalopathy and 11 (30.6 %) of 36 patients with AESD.

Conclusions: The primary causative pathogen of acute encephalopathy has changed to SARS-CoV-2. AESD remains the most common syndrome. Targeted temperature management is more, whereas high-dose corticosteroid therapy is less, frequently used. No specific treatment for mild encephalitis or encephalopathy with a reversible splenial lesion has been established.

Background: Critical life events challenge our competence to develop coping strategies. In people with multiple sclerosis (MS), the impact of genetics, disease-specific, and psychometric factors on coping strategies have not been explored to date.

Methods: In a unique cohort of 56 monozygotic twins discordant for MS, we applied comprehensive psychometric and clinical testing to measure factors influencing the psychosocial impact (including stressors and coping strategies) of a critical life event, exemplified by the COVID-19 pandemic (measured by the COVID-19 Pandemic Mental Health Questionnaire, CoPaQ). CoPaQ results were compared to an independent age- and sex-matched control cohort. We applied factor analysis, structural equation modeling, hypothesis testing, and regression models.

Results: We detected no differences in the perception of 14 CoPaQ subscales between MS and non-MS co-twins. However, compared to the independent control group, MS co-twins valued 5/14 CoPaQ subscales differently. Strong perception of pandemic-related stressors in MS co-twins was accompanied by higher HADS-Anxiety (ρ = 0.69, Hospital Anxiety and Depression Scale), HADS-Depression (ρ = 0.57), BDI-II (ρ = 0.74, Beck Depression Inventory), and MSIS-29-psychological scores (ρ = 0.58, Multiple Sclerosis Impact Scale 29). In a generalized linear mixed model, individuals who perceived pandemic-related stressors as more burdensome relied on inner resources, with a notable dependency on twinship.

Discussion: Using a unique twin approach, our study suggests that coping with critical life events is mainly driven by the genetic background. However, in people with MS, coping and the perception of stressors is further confounded by psychometric and disease-related factors.

Background: The glymphatic system, essential for brain waste clearance, has been implicated in neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS). Emerging imaging markers, such as the analysis along the perivascular space (ALPS) index and choroid plexus volume (CPV), may provide insights into glymphatic function, but their relevance to ALS remains unclear.

Objective: To assess glymphatic dysfunction in ALS patients using the ALPS index and CPV.

Methods: In this prospective single-center study, we analyzed 51 ALS patients and 51 age- and sex-matched healthy controls (HC). The ALPS index was calculated using diffusion tensor imaging, and 3D T1-weighted MRI was used for automated estimation of CPV and its fraction (CPV/total intracranial volume). Diagnostic performance was assessed using area under the receiver operating curve (AUC). Correlations between imaging markers and clinical parameters were also examined.

Results: ALS patients had a significantly lower ALPS index (ALS: 1.45 ± 0.15; HC: 1.55 ± 0.16; p = 0.002) and higher CPV fraction (ALS: 0.12 ± 0.04 %; HC: 0.10 ± 0.02 %; p < 0.001). The ALPS index and CPV fraction had AUCs of 0.70 and 0.72, respectively. A significant inverse correlation was observed between the ALPS index and CPV fraction (r = -0.31, p = 0.002). Both markers correlated with aging but not with clinical disability or progression rate.

Conclusion: This study identifies glymphatic dysfunction in ALS, as evidenced by changes in the ALPS index and CPV. Larger studies are warranted to validate these findings and assess their potential as biomarkers for ALS.

Background: Patients with connective tissue diseases (CTD) can have a wide range of neurological manifestations. Neurological complaints may be the presenting symptom of CTD. Therefore, screening for CTD using anti-nuclear antibodies (ANA) is a common practice. However, due to the abundance of positive ANA in a healthy population, interpretation of the results may be complex.

Methods: we retrospectively evaluated files of patients hospitalized for evaluation of neurological symptoms in Sheba Medical Center during the years 2007-2022. Data was collected regarding epidemiology, ANA status, and rheumatological diagnosis.

Results: 4723 patients' files were reviewed. Of them, 46.6 % were positive for ANA. 6.9 % of them were diagnosed with CTD. This population had significantly higher rates of positive ANA status (71.2 % vs 28.8 %, p < 0.001), was significantly older (59.4 vs 53.4 years, p < 0.001) and had a significantly higher ANA titer (1:484.8, 1:268 p < 0.001) compared to patients without CTD. Factors which were found predictive for CTD diagnosis included female gender, older age, ANA titer above 1:160, and the diagnosis of a non-vascular etiology for the neurological disease.

Conclusion: Females, older patients, patients with high ANA titer and with diagnosis of a non-vascular cause to their neurological complains may be more likely to harbor a CTD and should probably be further evaluated.

Facial onset sensory and motor neuronopathy (FOSMN) syndrome is a rare neurodegenerative disorder initially characterized by facial sensory deficits, which later progress to motor deficits in a rostral-caudal distribution. This study investigated the prevalence, clinical features, and prognosis of FOSMN syndrome and compared these aspects with those of bulbar-onset amyotrophic lateral sclerosis (ALS) within a single institutional cohort of motor neuron diseases. We identified four patients with FOSMN syndrome who had been misclassified as having bulbar-onset ALS, representing approximately 2 % of such ALS cases. The median age of onset for FOSMN syndrome was similar to that of bulbar-onset ALS. However, patients with FOSMN syndrome were often diagnosed at more advanced stages and had lower ALS Functional Rating Scale-revised (ALSFRS-R) scores. Despite the slower progression of FOSMN syndrome, therapeutic interventions such as gastrostomy or non-invasive ventilation were frequently required. In conclusion, this study provides detailed clinical profiles of patients with FOSMN syndrome and deepens our understanding of a heterogeneous group of neurodegenerative disorders.

Introduction: Early recognition and treatment of stroke is paramount for good outcome. Transport distance may result in delayed arrival for revascularization therapy. We investigated how transport time and distance to the revascularization unit affected the probability of receiving intravenous thrombolysis in Denmark between 2015 and 2020, for patients calling the Emergency Medical Services within three hours of symptom onset.

Methods: We obtained records from the Danish Stroke Registry (DanStroke) and the patient administrative computer-assisted dispatch system (CAD). All patients diagnosed with stroke from the Capital Region and Region Zealand, who contacted the EMS within three hours of symptom onset were included. The study population was analyzed using multivariate logistical regression models.

Results: For the Capital Region, longer transport time was associated with lower IVT rates, with an Odds-Ratio 0.91, 95 % CI [0.83;0.99], P-value 0.0386. There was no significant correlation between transport time and IVT rates for the Region of Zealand. However, fewer patients with >60 min estimated transport time received IVT than patients with 0-20 min estimated transport time in the Region of Zealand (Odds-ratio 0.63, 95 % CI [0.44;0.91], p-value 0.016).

Conclusions: Longer transport time to a revascularization unit is associated with significantly poorer IVT rates in the Capital Region of Denmark, despite calling in a timely manner for arrival within the 4.5-h treatment window. The same association was not established for the rural Region of Zealand; however, our findings do suggest that living >60 min from a revascularization unit is associated with a lower probability of receiving IVT in this region.

Neural networks (NNs) possess the capability to learn complex data relationships, recognize inherent patterns by emulating human brain functions, and generate predictions based on novel data. We conducted deep learning utilizing an NN to differentiate between Parkinson's disease (PD) and the parkinsonian variant (MSA-P) of multiple system atrophy (MSA). The distinction between PD and MSA-P in the early stages presents significant challenges. Considering the recently reported heterogeneity and random distribution of lesions in MSA, we performed an analysis employing an NN with voxel-based morphometry data from the entire brain as input variables. The NN's accuracy in distinguishing MSA-P from PD demonstrates sufficient practicality for clinical application.