Acta neurologica Belgica最新文献

Genetic variants can affect signaling pathways that are important in the pathophysiology of Parkinson’s disease (PD). Comprehending their relationship is crucial for the development of diagnostic instruments and preventative drugs for PD. We thoroughly analyzed data from 68 genome-wide association studies to uncover significant genetic variations and clarify the molecular pathways underlying the etiology of Parkinson’s disease (PD) resulting from genetic variants. Six common biomarkers linked to PD were found in all 68 investigations: SNCA, TMEM175, BST1, RIT2, LRRK2, and MCCC1. SNCA ((uparrow)rs5019538 and (uparrow)rs356182), LRRK2 ((uparrow)rs34637584 and (uparrow)rs76904798), and SH3GL2 ((uparrow)rs10756907 and (downarrow)rs13294100) were the main biomarkers associated with PD. The clinical traits of PD, such as age at onset, cognitive progression, motor progression, composite progression, tremor dominant, and postural instability gait difficulty, have been found to be underpinned by additional biomarkers, including APOE, NTRK2, SLCO1B3, SLC28A3, AQP10, SNCAIP, ANO2, CADM1, PTPRD, GPR32, GPR321, SQOR, SULT1C2, GABRG2, CYP4Z1, CDH13, and FANCF. Significant evidence was found linking genetic variants linked to an increased risk of PD to reduced dopamine production, receptor recycling, oxidoreductase activity, and increased amyloid-beta accumulation. Considerable evidence links genetic variations with a lower risk of PD due to improved synaptic vesicle signaling, neuron projection development, controlled histone methylation, and excitatory postsynaptic potential. Additionally, we found MYT1L and hsa-miR-20a-5p, which are essential for understanding the genetic variations linked to PD. These findings provide a solid underpinning for future therapeutic approaches aimed at PD, with a focus on the genetic variants and processes connected to the illness.

Graphic abstract

Background

Migraine is a prevalent neurovascular disorder affecting over one billion people globally, imposing significant daily life limitations. Migraine headaches are linked to the activation of trigeminal nerve endings. Glucagon-like peptide-1 (GLP-1) is a hormone involved in insulin regulation and plays neuroprotective roles in the central nervous system (CNS). Dipeptidyl peptidase-4 (DPP-4) is a protease enzyme that degrades GLP-1, rendering it inactive, and modulates metabolic and neurological pathways. This study investigates the association between serum GLP-1 and DPP-4 levels and migraine pathophysiology to propose a novel therapeutic approach for migraine.

Methods

The study included 42 migraine patients and 42 healthy controls. After fasting for at least 8 h, blood samples were collected. Serum GLP-1 and DPP-4 levels were measured using ELISA, and statistical analyses were conducted with SPSS 24.0.

Results

Serum GLP-1 and DPP-4 levels were significantly lower in migraine patients compared to controls (p < 0.001). Patients with migraine with aura had significantly lower GLP-1 levels compared to those with migraine without aura (p = 0.016). A significant decrease in GLP-1 levels was observed in patients experiencing pain localized in the occipital lobe (p = 0.01).

Conclusions

Serum GLP-1 and DPP-4 levels were lower in migraine patients. Given the role of GLP-1 in the central nervous system, reduced GLP-1 may contribute to migraine pain. Similarly, low DPP-4, which metabolizes GLP-1, may be linked to these findings and could trigger attacks by increasing blood CGRP levels.

Parkinson’s disease is the second most common neurodegenerative disease, characterized by both motor symptoms (MS) and non-motor symptoms (NMS). While MS have traditionally been the primary focus of treatment and research, NMS significantly contribute to disease burden. However, knowledge regarding NMS in Parkinson’s patients seems particularly lacking. Educational interventions have previously shown a positive effect on health outcomes in chronic illnesses such as Alzheimer’s disease and diabetes, warranting investigation into their impact on NMS in Parkinson’s disease. We conducted a systematic review to evaluate whether education interventions on non-motor symptoms (NMS) in Parkinson’s disease (PD) patients contribute to better disease outcomes. Education interventions showed significant effects on various patient-reported and physician-reported outcomes, including quality of life, motor symptoms, depression, fatigue, adherence to treatment, acceptance of diagnosis, satisfaction with care, psychosocial adjustment, and independence in activities of daily living. Some effects were temporary, implying the need for booster sessions in future education interventions. There was limited focus on the direct impact of education interventions on NMS other than depression and anxiety. No studies directly compared different education interventions, preventing conclusions on which type of intervention leads to the best outcome. In conclusion, education interventions on NMS in PD have significant effects on disease outcomes. Future research should determine the optimal timing for booster sessions and further investigate their impact on NMS beyond depression and anxiety. Direct comparisons between different education interventions are needed to identify the most effective approach.

Purpose

The present study evaluates the impact of virtual reality (VR) technology on balance function in patients with different neurological disorders, and explores the effects of diverse VR parameters on treatment efficacy.

Methods

A comprehensive search of PubMed, Cochrane Library, EMBASE, Web of Science, and Scopus databases was conducted up to December 15, 2024. Data from 44 studies Involving 2,019 patients were independently screened and extracted by two researchers. Risk of bias was assessed using the Cochrane Collaboration’s Risk of Bias Tool, and meta-analysis was performed using RevMan 5.4.1 software. The quality of evidence was evaluated using GRADE.

Results

VR significantly improved balance ability in patients with different neurological disorders (SMD = 0.75; 95% CI: 0.62–0.87; Z = 11.96; p < 0.001), with the most pronounced effect in Parkinson’s disease (SMD = 0.95; 95% CI: 0.67–1.22; Z = 6.75; p < 0.001). Significant improvements were also noted in static balance (SMD = 0.73; 95% CI: 0.42–1.04; Z = 4.59; p < 0.001), Berg Balance Scale (SMD = 0.76; 95% CI: 0.61–0.90; Z = 10.25; p < 0.001), Timed Up and Go (SMD = − 0.30; 95% CI: − 0.50 to − 0.09; Z = 2.87; p = 0.004), and Tinetti Scale (SMD = 0.53; 95% CI: 0.18–0.88; Z = 2.94; p = 0.003). However, improvements in the Activities-specific Balance Confidence scale (SMD = 0.29; 95% CI: − 0.04–0.61; Z = 1.72; p = 0.09) and Functional Reach Test scores (SMD = 0.17; 95% CI: − 0.30–0.63; Z = 0.70; p = 0.49) were not significant. Combining VR with other therapies yielded better results (SMD = 0.78; 95% CI: 0.63–0.93; Z = 10.29; p < 0.001). Treatments lasting no more than 30 min (SMD = 0.78; 95% CI: 0.63–0.94; Z = 9.73; p < 0.001) and Intervention periods not exceeding 6 weeks (SMD = 0.78; 95% CI: 0.61–0.95; Z = 9.02; p < 0.001) were more effective.

Conclusion

VR technology effectively improves balance In patients with neurological disorders. Optimal results are achieved with sessions under 30 min and intervention periods less than six weeks.

The prevalence of epilepsy is high in people with intellectual disability (ID) and increases with growing severity of the ID. People with epilepsy and ID are not only at risk of different types of seizure-related complications (such as injuries and sudden unexpected death) but also of different types of physical impairments and of psychiatric, cognitive and behavioral comorbidities. ID is also associated with drug-resistant epilepsy (OR 3.38). Polytherapy is frequent in this population and leads to (among others) psycho-behavioral and bone health adverse events. All these factors together complicate the care for these persons and cause a great deal of social dependency. They function at a lower level than the severity of the ID alone would predict. Due to the common intractability of the epilepsy, alternative treatments are needed such as ketogenic diet and in specific cases neurosurgery and neuromodulation. The behavioral disorder is mostly multifactorial and the treatment may be complex. The family burden and stress should be taken into account, as well as the transition from child to adult neurologist and the possibility of admission to institutes.

Objective

This study aimed to retrospectively evaluate the prevalence of COVID-19 infection among patients with Parkinson’s disease (PD), along with the clinical course and factors associated with mortality.

Methods

A total of 1,786 patients diagnosed with Parkinson’s disease and registered at our hospital were screened. Among these, 222 had undergone PCR testing for COVID-19, of whom 76 tested negative and 152 tested positive, indicating a COVID-19 prevalence of 8.51% in the PD population. Due to insufficient data, 63 of the COVID-19 positive patients were excluded. The final study cohort included 177 patients: 89 patients with PD (50.3%) and 88 age- and sex-matched controls (49.7%). Clinical, laboratory, and prognostic parameters were compared between groups.

Results

The prevalence of dementia was significantly higher in the PD group. Mortality at both 28 and 90 days was also significantly increased among patients with PD. Notably, those receiving combined therapy with dopamine agonists and levodopa had lower mortality rates at both time points. In patients who died within 28 or 90 days, levels of age, neutrophil count, lymphocyte count, D-dimer, ferritin, C-reactive protein (CRP), and troponin differed significantly compared to survivors.

Conclusion

Patients with Parkinson’s disease represent a vulnerable population at increased risk for adverse outcomes from COVID-19. Close clinical monitoring, continuous dopaminergic treatment, and a personalized approach are essential for optimizing management during COVID-19 infection.

Objectives

Patients diagnosed with amyotrophic lateral sclerosis (ALS) typically describe symptoms of fatigue. Despite this frequency, the underlying mechanisms of fatigue are poorly understood, and are likely multifactorial. To help clarify mechanisms, the present systematic review was undertaken to determine the risk factors related to fatigue in ALS.

Methods

A systematic review was conducted using PubMed and Google Scholar databases using key words. From a total of 40,014 articles, 18 articles were included in the final review, following PRISMA guidelines. Meta-regression and subgroup analyses were conducted to study the relationship between fatigue in ALS and different covariates.

Results

Eighteen studies were included in the analysis. A number of factors were investigated, including age, sex, disease severity and duration, site of disease onset, neurophysiological parameters, and respiratory symptoms, depression and anxiety, sleep disorders, and pain. Combined analyses established that participants with ALS who reported fatigue had more severe disease, as confirmed by lower functional rating scores, than those who did not report fatigue. The remaining factors including depression, anxiety and pain, were not found to be related to the onset of fatigue in ALS. Overall, fatigue worsened quality of life in patients diagnosed with ALS.

Discussion

Fatigue in ALS appears to be particularly associated with progressive neurological deficit and disability, linked to both central and peripheral neuromuscular mechanisms.