Acta neurologica Belgica最新文献

Background: Relapsing-remitting multiple sclerosis (RRMS) often necessitates treatment changes due to safety concerns, inadequate efficacy, or patient-specific factors. While second-line therapies (e.g., natalizumab, ocrelizumab) are effective, real-world evidence on outcomes after switching or discontinuing these therapies are limited, particularly in diverse healthcare settings.

Objective: This study aimed to evaluate treatment transition patterns, reasons for discontinuation, and six-month clinical/MRI outcomes in patients with RRMS switching between second-line therapies or discontinuing treatment.

Methods: A retrospective cohort study was conducted at Sina Hospital, Tehran, Iran, including 338 RRMS patients who switched or discontinued second-line therapies including fingolimod, natalizumab, ocrelizumab and rituximab. Clinical and MRI data were collected at baseline (therapy change/discontinuation) and six-month follow-up. Outcomes included relapse frequency, disability progression (Expanded Disability Status Scale [EDSS]), and MRI lesion activity. Statistical analysis was done using paired t-tests and descriptive statistics.

Results: Among 338 patients (83.1% female, mean age 33.9 years), treatment transitions occurred most frequently to ocrelizumab (42.3%) or rituximab (33.4%). Safety concerns (32.0%), inadequate efficacy (29.9%), tolerability issues (13.6%), and pregnancy planning (8.9%) were primary reasons for therapy changes. Overall paired analyses of EDSS scores showed a strong correlation between pre- and post-switch measurements (r = 0.944, p < 0.001), although the average change for the entire cohort was minimal and not statistically significant. Notably, the subgroup of patients who switched from fingolimod to ocrelizumab demonstrated a statistically significant reduction in EDSS scores, with a mean difference of 0.19 (p = 0.019). Furthermore, among 110 patients whose treatment change was driven solely by inadequate efficacy (e.g., ongoing relapses or poor symptom control), the mean EDSS improved significantly from 2.41 (± 1.74) at baseline to 2.16 (± 1.80) at six months, with a mean difference of 0.25 (p < 0.001) and a strong correlation between baseline and follow-up scores (r = 0.92, p < 0.001).

Conclusion: B-cell-depleting therapies, particularly ocrelizumab, may help lower disability in active RRMS, but longer follow-up is needed to confirm sustained benefits. Personalized strategies that balance efficacy, safety, and patient-specific factors (e.g., PML risk, pregnancy) are essential. Although most patients had low baseline disability, which may limit generalizability, these findings still offer real-world insight into treatment transitions. Longer prospective studies are needed to confirm long-term outcomes.

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.