European Journal of Neurology最新文献

Background and purpose: Supracondylar humerus fractures (SCHFs) are the most common elbow fractures in children. Traumatic median nerve injury and isolated lesions of its pure forearm motor branch, anterior interosseus nerve (AIN), have both been independently reported as complications of displaced SCHFs. Our main objectives were to characterize the neurological syndrome to distinguish median nerve from AIN lesions and to determine the prognosis of median nerve lesions after displaced SCHFs.

Methods: Ten children were prospectively followed for an average of 11.6 months. Patients received a standardized clinical examination and high-resolution ultrasound of the median nerve every 1-3 months starting 1-2 months after trauma. Electrodiagnostic studies were performed within the first 4 months and after complete clinical recovery.

Results: All children shared a clinical syndrome with predominant but not exclusive affection of AIN innervated muscles. High-resolution ultrasound uniformly excluded persistent nerve entrapment and neurotmesis requiring revision surgery but visualized post-traumatic median nerve neuroma at the fracture site in all patients. Electrodiagnostic studies showed axonal motor and sensory median nerve neuropathy. All children achieved complete functional recovery under conservative management. Motor recovery required up to 11 months and differed between involved muscles.

Conclusions: It was shown that neurological deficits of the median nerve in displaced SCHFs exceeded an isolated AIN lesion. Notably, detailed neurological follow-up examinations and sonographic exclusion of persistent nerve compression were able to guide conservative therapy in affected children. Under these conditions the prognosis of median nerve lesions was excellent despite severe initial deficits, development of neuroma and axonal injury.

Background and purpose: Fatigue is a common and disabling symptom in multiple sclerosis (MS). Educational interventions have shown potential to reduce fatigue. The aim was to systematically review the current best evidence on patient education programmes for MS-related fatigue.

Methods: This was a systematic review and meta-analysis following Cochrane methodology. A systematic search was conducted in eight databases (September 2023). Moreover, reference lists and trial registers were searched and experts in the field were contacted. Randomized controlled trials were included evaluating patient education programmes for people with MS with the primary aim of reducing fatigue.

Results: In total, 1176 studies were identified and assessed by two independent reviewers; 15 studies (1473 participants) were included. All interventions provided information and education about different aspects of MS-related fatigue with different forms of application, some with components of psychological interventions. Amongst those, the most frequently applied were cognitive behavioural therapy (n = 5) and energy-conservation-based approaches (n = 4). Studies differed considerably concerning mode of intervention delivery, number of participants and length of follow-up. Interventions reduced fatigue severity (eight studies, n = 878, standardized mean difference -0.28; 95% confidence interval -0.53 to -0.03; low certainty) and fatigue impact (nine studies, n = 824, standardized mean difference -0.21; 95% confidence interval -0.42 to 0.00; moderate certainty) directly after the intervention. Mixed results were found for long-term effects on fatigue, for secondary endpoints (depressive symptoms, quality of life, coping) and for subgroup analyses.

Conclusion: Educational interventions for people with MS-related fatigue may be effective in reducing fatigue in the short term. More research is needed on long-term effects and the importance of specific intervention components, delivery and context.

Background and purpose: Bacterial meningitis is a severe disease with high rates of complications and unfavorable outcome. Complications involving the spinal cord are rarely reported.

Methods: Cases of noncompressive myelopathy were identified from a nationwide cohort study of adults with community-acquired bacterial meningitis in the Netherlands. The American Spinal Injury Association Impairment Scale was used to classify the severity of spinal cord dysfunction. Subsequently, we reviewed the literature on noncompressive myelopathy as a complication of bacterial meningitis.

Results: Noncompressive myelopathy was reported in seven of 3047 episodes of community-acquired bacterial meningitis (0.2%). The median age of these patients was 51 years (range = 17-77). Causative pathogens were Streptococcus pneumoniae in three, Streptococcus agalactiae in two, and Neisseria meningitidis and Haemophilus influenzae both in one. Paresis of legs (n = 6) or arms and legs (n = 1) was the presenting symptom, occurring after a median duration of 9 days after admission (range = 2-28). Spinal magnetic resonance imaging showed T2-weighted abnormalities of the spinal cord in six of seven patients. Improvement of spinal cord function during admission was noted in four of seven patients. The literature review yielded 15 additional cases. Among patients from our cohort and the literature, there was no significant association between immunosuppressive therapy and subsequent improvement of spinal cord function (5/8 patients with immunosuppressive therapy [63%] vs. 5/14 without immunosuppressive therapy [36%], p = 0.44).

Conclusions: Noncompressive myelopathy is an uncommon but severe complication of bacterial meningitis. Improvement after diagnosis is expected, but all patients had persistent neurological deficits.

Background and purpose: The pathogenesis of idiopathic normal pressure hydrocephalus (iNPH) remains controversial. Limited studies have indicated a high prevalence of obstructive sleep apnoea (OSA) amongst iNPH patients. The aim was to investigate the clinical correlates of OSA in iNPH patients.

Methods: In this cross-sectional observational study, consecutive iNPH patients were prospectively enrolled. Evaluations included the iNPH Rating Scale, the Movement Disorder Society Unified Parkinson's Disease Rating Scale part III, the time and number of steps to walk 10 m, the Epworth Sleepiness Scale, the Pittsburgh Sleep Quality Index, a complete neuropsychological evaluation, 3-T brain MRI, full-night video-polysomnography, tap test and cerebrospinal fluid (CSF) neurodegeneration biomarkers.

Results: Fifty-one patients were screened, of whom 38 met the inclusion criteria. Amongst the recruited patients, 19/38 (50%) exhibited OSA, with 12/19 (63.2%) presenting moderate to severe disorder. OSA+ iNPH patients required more time (p = 0.02) and more steps (p = 0.04) to complete the 10-m walking test, had lower scores on the gait subitem of the iNPH Rating Scale (p = 0.04) and demonstrated poorer performance on specific neuropsychological tests (Rey Auditory Verbal Learning Test immediate recall, p = 0.03, and Rey-Osterrieth Complex Figure, p = 0.01). Additionally, OSA+ iNPH patients had higher levels of total tau (p = 0.02) and phospho-tau (p = 0.03) in their CSF but no statistically significant differences in beta-amyloid (1-42) levels compared to OSA- iNPH patients.

Conclusion: Obstructive sleep apnoea is highly prevalent in iNPH patients, particularly at moderate to severe levels. OSA is associated with worse motor and cognitive performance in iNPH. The CSF neurodegeneration biomarker profile observed in OSA+ iNPH patients may reflect OSA-induced impairment of cerebral fluid dynamics.

Background and purpose: The Rasch-Built Pompe-Specific Activity (R-PAct) scale is a patient-reported outcome measure specifically designed to quantify the effects of Pompe disease on daily life activities, developed for use in Dutch- and English-speaking countries. This study aimed to validate the R-PAct for use in other countries.

Methods: Four other language versions (German, French, Italian, and Spanish) of the R-PAct were created and distributed among Pompe patients (≥16 years old) in Germany, France, Spain, Italy, and Switzerland and pooled with data of newly diagnosed patients from Australia, Belgium, Canada, the Netherlands, New Zealand, the USA, and the UK and the original validation cohort (n = 186). The psychometric properties of the scale were assessed by exploratory factor analysis and Rasch analysis.

Results: Data for 520 patients were eligible for analysis. Exploratory factor analysis suggested that the items separated into two domains: Activities of Daily Living and Mobility. Both domains independently displayed adequate Rasch model measurement properties, following the removal of one item ("Are you able to practice a sport?") from the Mobility domain, and can be added together to form a "higher order" factor as well. Differential item functioning (DIF)-by-language assessment indicated DIF for several items; however, the impact of accounting for DIF was negligible. We recalibrated the nomogram (raw score interval-level transformation) for the updated 17-item R-PAct scale. The minimal detectable change value was 13.85 for the overall R-PAct.

Conclusions: After removing one item, the modified-R-PAct scale is a valid disease-specific patient-reported outcome measure for patients with Pompe disease across multiple countries.

Background and purpose: The impact of bridging thrombolysis prior to endovascular thrombectomy (EVT) compared to EVT alone on intracerebral haemorrhage (ICH), subarachnoid haemorrhage (SAH), and death in anticoagulated atrial fibrillation (AF) patients with acute ischaemic stroke (AIS) is not well defined.

Methods: A retrospective study was conducted using data from a federated research network (TriNetX) including 114 health care organisations in the United States. Anticoagulated AF patients with AIS who received either bridging thrombolysis (BT) or EVT alone from September 2018 to November 2023 were included. Following propensity score matching, Cox regression analyses examined the risk of ICH, SAH, and death within 30 and 90 days, comparing anticoagulated AF patients receiving BT versus EVT only.

Results: A total of 3156 patients with AIS were treated with BT or EVT alone. Following 1:1 propensity score matching, the cohort included 766 patients in each group. ICH occurred within 30 and 90 days in 6.9% and 8.0% in the BT group compared with 7.4% and 7.7% in the EVT-only group (hazard ratios [HR] = 0.92, 95% confidence interval [CI] = 0.63-1.33 and HR = 1.01, 95% CI = 0.71-1.45, respectively). SAH occurred within 30 and 90 days in 4.2% and 4.4% of patients in the BT compared to 3.0% and 3.4% in the EVT-only group (HR = 1.38, 95% CI = 0.81-2.38 and HR = 1.29, 95% CI = 0.77-2.14, respectively). Death occurred within 30 and 90 days in 17.8% and 19.8% of patients in the BT compared to 22.2% and 27.3% in the EVT-only group (HR = 0.77, 95% CI = 0.62-0.97 and HR = 0.65, 95% CI = 0.56-0.86, respectively).

Conclusions: In anticoagulated AF patients with AIS, BT was associated with a significantly lower risk of death, with no difference in ICH or SAH risk within 30 and 90 days compared to EVT only.

Background and purpose: Behavioral variant frontotemporal dementia (bvFTD) and primary psychiatric disorders (PPD), such as mood, psychotic, and autism spectrum disorders, share similar clinical characteristics of behavior and social cognition. Better understanding of clinical progression in bvFTD and PPD is essential for adequate disease monitoring and trial design.

Methods: In this longitudinal study (N = 89), patients with bvFTD and PPD with at least one follow-up assessment were included from the Social Brain Project of the Alzheimer Center Amsterdam. Behavioral change and social cognitive decline were assessed via informant-rated questionnaires (Cambridge Behavioral Inventory-Revised, Frontal Behavioral Inventory [FBI], Stereotypy Rating Inventory, Frontotemporal Dementia Rating Scale, Revised Self-Monitoring Scale [RSMS]-caregiver) and patient assessment (Ekman 60-Faces Test, RSMS-patient, Emotional Contagion Scale). Clinical trajectories (median = 1.4 years, interquartile range = 1.0-2.2) were examined using linear mixed models. In a subsample, associations with baseline serum neurofilament light (sNfL) were examined.

Results: At baseline, behavioral and social cognitive symptoms were similar between diagnosis groups, except for poorer emotion recognition in bvFTD. Over time, behavioral symptoms worsened in bvFTD, whereas most measures remained stable and the FBI improved in PPD. Regarding social cognition, emotion recognition and caregiver-reported socioemotional sensitivity worsened in bvFTD and remained stable in PPD. Patient-reported social cognitive measures did not change over time. Higher sNfL was associated with faster behavioral change.

Conclusions: Trajectories of behavior and social cognition differentiate bvFTD from PPD, provided that social cognition is not patient-reported. Therefore, we stress the need to optimize longitudinal social cognitive assessment in bvFTD. sNfL may be a useful prognostic marker of behavioral progression in neuropsychiatric populations.

Background and purpose: Peripheral inflammation is probably involved in the pathogenesis of progressive supranuclear palsy (PSP) and it may be a common feature with Parkinson's disease (PD). The peripheral immune profile in PSP remains unclear, as well as whether the inflammatory pathways differ from those in PD. The neutrophil-to-lymphocyte ratio (NLR) has been proven to be a well-established biomarker of systemic inflammation. This study aimed to evaluate the peripheral immune profile in PSP compared with PD.

Methods: A cross-sectional study was conducted including patients with PSP and PD and healthy controls (HCs). Leukocyte subpopulations and the NLR were measured in peripheral blood. Multivariate linear regression and post hoc tests were applied. Electronic databases were searched in November 2023 to perform meta-analyses to clarify the peripheral immune profile in PSP.

Results: Our cohort included 121 patients with PSP, 127 patients with PD and 266 HCs. The NLR was higher in PSP and PD compared with HCs. PSP had a higher neutrophil count compared with HCs. Whilst a lower lymphocyte count was found in PD compared with HCs, the lymphocyte count did not differ between PSP and HCs. The meta-analyses supported this immune profile.

Conclusions: PSP and PD show an increased peripheral inflammation and a higher NLR compared with HCs. Different pathogenic inflammatory mechanisms are probably involved in PSP and PD, since in PSP this altered peripheral immune profile is mainly driven by neutrophils. Understanding the neutrophils' role in PSP may allow for the development of targeted therapies.

Background and purpose: Multiple system atrophy (MSA) is a progressive, adult-onset neurodegenerative disorder clinically characterized by combinations of autonomic failure, parkinsonism, cerebellar ataxia and pyramidal signs. Although a few genetic factors have been reported to contribute to the disease, its mutational profiles have not been systemically studied.

Methods: To address the genetic profiles of clinically diagnosed MSA patients, exome sequencing and triplet repeat detection was conducted in 205 MSA patients, including one familial case. The pathogenicity of variants was determined according to the American College of Medical Genetics and Genomics and the Association for Molecular Pathology guidelines.

Results: In the familial patient, a novel heterozygous COQ2 pathogenic variant (p.Ala351Thr) was identified in the MSA pedigree. In the sporadic patients, 29 pathogenic variants were revealed in 21 genes, and the PARK7 p.Ala104Thr variant was significantly associated with MSA (p = 0.0018). Moreover, burden tests demonstrated that the pathogenic variants were enriched in cerebellar ataxia-related genes in patients. Furthermore, repeat expansion analyses revealed that two patients carried the pathogenic CAG repeat expansion in the CACNA1A gene (SCA6), one patient carried the (ACAGG)exp/(ACAGG)exp expansion in RFC1 and one carried the GAA-pure expansion in FGF14 gene.

Conclusion: In conclusion, a novel COQ2 pathogenic variant was identified in a familial MSA patient, and repeat expansions in CACNA1A, RFC1 and FGF14 gene were detected in four sporadic patients. Moreover, a PARK7 variant and the burden of pathogenic variants in cerebellar ataxia-related genes were associated with MSA.