Determinants of self-perceived quality of life in mildly disabled multiple sclerosis patients: a cross-sectional study
ConclusionMood, presence of psychosomatic symptoms, fatigue and age can have a relevant impact on spHRQoL in people with mildly disabling MS and should be considered in the management of such individuals. (Source: Journal of Neurology)
Source: Journal of Neurology - March 25, 2024 Category: Neurology Source Type: research
Impaired vestibular function associated with orthostatic hypotension in patients with multiple system atrophy
ConclusionsOur results demonstrated that impairment of vestibular function was associated with MSA, particularly in those with OH. Absent VEMPs may be a potential marker for MSA severity. Our findings suggest that impaired vestibular function is involved in OH development and may serve as an intervention target. (Source: Journal of Neurology)
Source: Journal of Neurology - March 25, 2024 Category: Neurology Source Type: research
Real-World experience with efgartigimod in patients with myasthenia gravis
AbstractRecommendations for the treatment of myasthenia gravis (MG) have been difficult to develop because of limited evidence from large randomized controlled trials. New drugs and treatment approaches have recently been shown to be effective in phase 3 studies in seropositive generalized (g) MG. One such drug is efgartigimod, a human-Fc-fragment of IgG1, with a high affinity for the endosomal FcRn. We conducted a multicenter study to evaluate the real-world clinical and safety effects of efgartigimod in 22 gMG patients. We evaluated the strategies for the timing of re-treatment with it. The participants received a tota...
Source: Journal of Neurology - March 25, 2024 Category: Neurology Source Type: research
Exploring mitochondrial biomarkers for Friedreich's ataxia: a multifaceted approach
This study presents an in-depth analysis of mitochondrial enzyme activities in Friedreich's ataxia (FA) patients, focusing on the Electron Transport Chain complexes I, II, and IV, the Krebs Cycle enzyme Citrate Synthase, and Coenzyme Q10 levels. It examines a cohort of 34 FA patients, comparing their mitochondrial enzyme activities and clinical parameters, including disease duration and cardiac markers, with those of 17 healthy controls. The findings reveal marked reductions in complexes II and, specifically, IV, highlighting mitochondrial impairment in FA. Additionally, elevated Neurofilament Light Chain levels and cardio...
Source: Journal of Neurology - March 23, 2024 Category: Neurology Source Type: research
Correction to: Neurofilament light in plasma is a potential biomarker of central nervous system involvement in systemic lupus erythematosus
(Source: Journal of Neurology)
Source: Journal of Neurology - March 23, 2024 Category: Neurology Source Type: research
Machine learning models help differentiate between causes of recurrent spontaneous vertigo
ConclusionsMachine learning models can accurately differentiate between VM and MD and are promising tools to assist diagnosis by medical practitioners with diverse levels of expertise and resources. (Source: Journal of Neurology)
Source: Journal of Neurology - March 23, 2024 Category: Neurology Source Type: research
Phenotype variability and natural history of X-linked myopathy with excessive autophagy
AbstractObjectiveX-linked myopathy with excessive autophagy (XMEA) linked to theVMA21 gene leads to autophagy failure with progressive vacuolation and atrophy of skeletal muscles. Current knowledge of this rare disease is limited. Our objective was to define the clinical, radiological, and natural history of XMEA.MethodsWe conducted a retrospective study collecting clinical, genetic, muscle imaging, and biopsy data of XMEA patients followed in France and reviewed the literature for additional cases.ResultsEighteen males had genetically confirmed XMEA in France, carrying four differentVMA21 variants. Mean age at disease ons...
Source: Journal of Neurology - March 22, 2024 Category: Neurology Source Type: research
Comparing major and mild cognitive impairment risks in older type-2 diabetic patients: a Danish register-based study on dipeptidyl peptidase-4 inhibitors vs. glucagon-like peptide-1 analogues
This study focuses on the risk of deve loping mild and major CI in Danish patients treated with dipeptidyl peptidase-4 inhibitors (DPP-4i) and glucagon-like peptide-1 analogues (GLP-1a) using administrative and healthcare registers.MethodsAn active comparator design with a 3-year follow-up period was used. The main outcome was the hospital admission with a diagnosis of mild CI or major CI. Multivariate Cox Regression analysis was performed using the high-dimensional propensity score to obtain adjusted Hazard Ratio (HR) estimates. Inverse probability of treatment weighting (IPTW) and marginal structured model were used to c...
Source: Journal of Neurology - March 22, 2024 Category: Neurology Source Type: research
Persons with multiple sclerosis older than 55 years: an analysis from the German MS registry
ConclusionPwMS ≥ 55 years have a high degree of disability, but a large proportion do not receive disease modifying therapy, exposing an unmet need. (Source: Journal of Neurology)
Source: Journal of Neurology - March 22, 2024 Category: Neurology Source Type: research
Longitudinal clinicoradiological findings in pathologically confirmed chronic traumatic encephalopathy
(Source: Journal of Neurology)
Source: Journal of Neurology - March 21, 2024 Category: Neurology Source Type: research
Prevalence and temporal relationship of clinical co-morbidities in idiopathic dystonia: a UK linkage-based study
This study suggests an increased rate of specific co-morbid clinical disorders both pre- and p ost-dystonia diagnosis which should be considered during clinical assessment of those with dystonia to enable optimum symptomatic management. (Source: Journal of Neurology)
Source: Journal of Neurology - March 21, 2024 Category: Neurology Source Type: research
Thalamic nuclei volume partially mediates the effects of aerobic capacity on fatigue in people with multiple sclerosis
ConclusionsHigher VO2peak is associated with lower fatigue in pwMS, likely acting on Dor thalamic cluster volume integrity. Such an effect might be different according to the type of fatigue (cognitive or physical). (Source: Journal of Neurology)
Source: Journal of Neurology - March 20, 2024 Category: Neurology Source Type: research
Follow-up infarct volume on fluid attenuated inversion recovery (FLAIR) imaging in distal medium vessel occlusions: the role of cerebral blood volume index
ConclusionOur findings underscore the CBV index as an independent association with FIV in DMVOs, which highlights the critical role of collateral circulation in determining stroke outcomes in this patient population. In addition, our study confirms a negative association of ASPECTS with FLAIR FIV and identifies diabetes as independent factor associated with larger FIV. These insights pave the way for further large-scale, prospective studies to corroborate these findings, thereby refining the strategies for stroke prognostication and management. (Source: Journal of Neurology)
Source: Journal of Neurology - March 20, 2024 Category: Neurology Source Type: research
Predictors of early neurological deterioration in patients with intracerebral hemorrhage: a systematic review and meta-analysis
ConclusionsThis meta-analysis revealed a pooled prevalence of early neurological deterioration of 23% in patients with intracerebral hemorrhage. The initial NIHSS score, hematoma volume, intraventricular hemorrhage, intraventricular expansion, hematoma expansion, and spot sign enhanced the probability of early neurological deterioration. These findings provide healthcare providers with an evidence-based basis for detecting and managing early neurological deterioration in patients with intracerebral hemorrhage. (Source: Journal of Neurology)
Source: Journal of Neurology - March 20, 2024 Category: Neurology Source Type: research
Efficacy and safety of selumetinib in patients with neurofibromatosis type 1 and inoperable plexiform neurofibromas: a systematic review and meta-analysis
ConclusionOur study demonstrates that selumetinib is effective in patients with NF1 and PN, significantly improving the serious complications associated with PN as well as having tolerable toxicities. Our findings help to increase clinicians' confidence in applying selumetinib and promote the clinical adoption and benefit of the new drug. (Source: Journal of Neurology)
Source: Journal of Neurology - March 19, 2024 Category: Neurology Source Type: research
