Acta neurologica Belgica最新文献

Rasmussen encephalitis (RE) is a rare, immune-mediated disorder characterized by drug-resistant focal epilepsy, progressive unilateral hemispheric dysfunction, and cognitive and motor decline, with epilepsia partialis continua (EPC) as a particularly disabling feature. Hemispheric disconnection can control seizures in up to 80% of cases but carries high risk of severe deficits, particularly in dominant-hemisphere involvement. Responsive neurostimulation (RNS) is FDA-approved for medically intractable focal epilepsy, but experience in RE-related EPC remains limited. We describe a 13-year-old right-handed male with dominant-hemisphere RE and refractory EPC. He failed 10 antiseizure medications, steroids, IVIG, and rituximab. MRI revealed left basal ganglia, mesial temporal, insular, and frontal hyperintensities; fMRI confirmed left hemispheric language dominance. Intracranial EEG localized seizure onset to the left perisylvian region. Hemispheric disconnection was declined due to functional risk, and off-label RNS therapy was pursued. Three cortical strip electrodes were implanted over the left posterior frontal convexity, with two connected to the device. Initial RNS recordings demonstrated near-continuous epileptiform discharges. Lead-to-lead stimulation reduced EPC propagation to the right shoulder and neck by > 50% over 30 months, though facial EPC persisted. Long episode burden decreased from 4000-6000/day to ~ 600/day. Cognitive, speech, and motor function remained stable. No device- or stimulation-related adverse effects occurred despite ongoing rituximab-induced immunosuppression. Initiation of cenobamate correlated with further reduction in long episodes. This case demonstrates that RNS can provide meaningful seizure reduction and functional stabilization in RE patients who are not candidates for hemispheric disconnection, while preserving cognition and language. RNS also allows longitudinal monitoring of epileptiform activity, offering an objective biomarker to guide therapy. Literature reports similarly show 50-75% seizure reduction with RNS, status epilepticus control, and stabilization of cognitive function, while other neuromodulation approaches-including chronic cortical stimulation, thalamic DBS, GPi and zona incerta stimulation, rTMS, tDCS, and VNS-also show promise. Overall, neuromodulation represents a feasible and evolving strategy for managing RE-related EPC, especially in dominant-hemisphere cases where conventional surgery carries high risk.

Background: Multiple sclerosis (MS) is a chronic, immune-mediated neurological disorder that is frequently associated with psychiatric comorbidities, particularly obsessive-compulsive disorder (OCD). OCD may increase psychological burden, reduce quality of life, and exacerbate disease activity in people with MS (PwMS). However, the frequency of OCD in PwMS and its association with MS remain mostly uncertain. This review aimed to estimate the overall prevalence of OCD in PwMS and to evaluate the association between MS and OCD.

Methods: A comprehensive search of PubMed, Scopus, Embase, and Web of Science was conducted up to January 2025 to identify studies that assessed the frequency rate of OCD in PwMS or explored the relationship between MS and OCD. The meta-analysis was performed using a random-effects model in R version 4.4.0.

Results: Ten studies on 1024 PwMS and 172 healthy controls met the inclusion criteria. The pooled prevalence of OCD among PwMS was 10.7% (95% CI: 5.6% to 15.9%, I² = 67%). Meta-analysis on three studies indicated that the odds of OCD was significantly increased in PwMS (OR = 3.25, 95% CI: 1.13 to 9.36, p-value = 0.03). Although moderate to high heterogeneity was observed, sensitivity analyses confirmed the robustness of the results, and no significant evidence of publication bias was identified.

Conclusion: This review indicated that the overall frequency 10.7% of OCD increased risk (3.2-fold) of OCD among PwMS. Screening and targeted interventions for OCD may enhance clinical outcomes and quality of life of PwMS.

Gabriele-de Vries syndrome (GADEVS) is a rare genetic disorder caused by mutations in the YY1 gene. It often leads to developmental delay, cognitive difficulties, and congenital abnormalities. About half of affected individuals develop movement disorders, including dystonia. Evidence for effective treatment is still limited. We describe a 35-year-old male patient with juvenile-onset generalized dystonia. His symptoms did not improve with medication. Genetic testing showed a previously unreported de-novo YY1 nonsense variant. Because of the progression of symptoms, he underwent bilateral deep brain stimulation of the globus pallidus internus (DBS-GPi). After surgery, his condition improved. His dystonia became less severe, and his gait and speech also improved. The Burke-Fahn-Marsden motor score decreased from 100 to 50, and the disability score decreased from 20 to 14 at six months. Follow-up at four years, after implementing Brainlab software, showed further improvement in Burke-Fahn-Marsden dystonia motor score of 46 and a stable disability score of 14. Adjustments of stimulation parameters helped maintain good control of symptoms. Only one similar case treated with DBS has been reported so far. This case suggests that DBS-GPi may be a useful treatment option for dystonia caused by YY1 mutations.

Introduction: Neuroblastoma (NB) is the most common extracranial solid tumour in children, with low 5-year survival rates in high-risk cases. Identifying new tumour biomarkers is essential for risk stratification. This study investigated the potential of LC3B as a prognostic biomarker for high-risk NB.

Methods: Peripheral blood, tissue samples, and clinical data were collected from 53 children with NB. The expression rates of 16 biomarker antibodies in peripheral blood mononuclear cells were analysed using flow cytometry. NB mRNA expression profiles and clinical data from 282 tissue samples were obtained from the Gene Expression Omnibus database (GSE49710). Multivariate logistic regression assessed factors influencing high-risk NB, and a receiver operating characteristic curve (ROC) was plotted.

Results: Flow cytometry revealed that LC3B expression in peripheral blood mononuclear cells was significantly lower in the high-risk group compared to the low-intermediate-risk groups (P < 0.05). Analysis of the Gene Expression Omnibus database indicated that LC3B mRNA was highly expressed in low- to intermediate-risk patients but weakly in high-risk patients (P < 0.01). ROC analysis showed that LC3B expression has prognostic value for high-risk NB [AUC = 0.684, 95% CI: (0.541, 0.827)], which improves when combined with neuron-specific enolase (NSE) [AUC = 0.789, 95% CI: (0.667, 0.911)]. The expression level of LC3B mRNA in tumour tissues provided the best prognostic model for high-risk NB [AUC = 0.855, 95% CI: (0.808, 0.903)].

Conclusion: LC3B may be a novel prognostic biomarker for screening high-risk patients with NB, and combined detection with NSE could enhance prognostic accuracy.

Introduction and objectives: Multiple sclerosis (MS) is a chronic neurologic disease that primarily affects adults of working age. Symptoms related to the disease can lead to unemployment and challenges in the workplace. This study aims to review the challenges related to work life in actively working adult patients with MS, and investigate the relationship of these challenges with disease-related factors such as cognitive, emotional, and physical disability, as well as the coping strategies employed.

Methods: One hundred fifty patients with a definitive diagnosis of relapsing-remitting multiple sclerosis (RRMS) were included in the study. We evaluated fatigue, cognition, mood, extremity functions, disability, and coping strategies for difficulties at work.

Results: In our study, as patients' cognitive levels decreased, their scores on psychological/cognitive barriers, physical barriers, and total barriers increased. We found a negative correlation between work-related difficulties and patients' cognitive levels. As patients' scores on depression, fatigue, and hopelessness tests increased, their scores across all work-related barriers also increased.

Conclusion: This study highlights the importance of evaluating the clinical symptoms, work-related challenges, and coping strategies in the follow-up of working patients with MS. Therefore, we suggest prioritizing adaptive coping and vocational rehabilitation to mitigate work-related difficulties.

Background: Although fatigue is one of the most prevalent symptoms in patients with multiple sclerosis (MS), its underlying mechanisms remain insufficiently understood. Emerging evidence suggests that interoceptive sensibility and maladaptive metacognitive beliefs may play a central role in the development and maintenance of fatigue. The present study examined the interplay between interoceptive sensibility, maladaptive metacognitive beliefs, affective symptoms, and fatigue in individuals with MS.

Methods: In this cross-sectional study, 240 patients with relapsing-remitting MS completed validated self-report measures of interoceptive sensibility, metacognitive beliefs, fatigue, and affective symptoms. Symptom networks were estimated using EBICglasso regularization. Expected influence and bridge expected influence indices were calculated to identify central and bridging nodes, with network stability tested via non-parametric bootstrapping. Based on network results, serial mediation analyses were conducted to examine pathways linking interoceptive sensibility, metacognition, anxiety, and fatigue.

Results: In the network analysis, anxiety and general fatigue emerged as primary bridging symptoms, while the Multidimensional Assessment of Interoceptive Awareness subscale "Not Worrying" showed negative bridge values, suggesting potential protective effects. Cognitive confidence also displayed significant bridge connections with fatigue and affective symptoms. Mediation analyses demonstrated that the protective effect of Not Worrying on general fatigue was indirectly effected by reduced anxiety and increased cognitive confidence (total indirect effect: b = - 0.92, 95% CI [-1.24, - 0.61]).

Conclusion: Fatigue is a complex structure intertwined with interoceptive sensibility, metacognitive beliefs, and psychological symptoms. Approaches such as metacognitive therapy and mindfulness-based interventions may therefore be particularly effective in alleviating MS fatigue.