The rs10191329 Risk Allele Is Associated With Pronounced Retinal Layer Atrophy in Multiple Sclerosis.

Objective: To investigate whether the rs10191329 risk allele in the DYSF-ZNF638 locus, which is implicated in central nervous system resilience rather than immune-mediated pathology, is associated with retinal layer thinning, a biomarker of neuroaxonal damage in relapsing multiple sclerosis (RMS).

Methods: From a prospective observational study, we included RMS patients with ≥ 2 optical coherence tomography (OCT) scans, excluding eyes with optic neuritis during the observation period. DNA samples were genotyped using the Illumina Infinium Global Screening Array-24 and variants imputed using the Haplotype Reference Consortium panel and Minimac4.

Predictors of brain atrophy in focal epilepsy.

Background: Epilepsy as a progressive disease is a topic of dispute, with only limited evidence supportive of a neurodegenerative hypothesis across structural etiologies other than hippocampal sclerosis.

Methods: We performed cross-sectional brain volumetry on T1-weighted MRI scans in 59 people with drug-resistant focal epilepsy (PWFE), who had undergone extensive evaluation at a tertiary epilepsy center and were compared to three independent age-and sex-matched healthy control cohorts. 36 (61%) PWFE showed structural pathologies such as malformations of cortical development, low-grade epilepsy-associated neuroepithelial tumours and hippocampal sclerosis or encephaloceles, 23 (19%) PWFE were MRI-negative.

Evaluation of Nidus Occlusion After Radiosurgery in Brain Arteriovenous Malformations-A Prospective Study Using Arterial Spin Labeling.

Background And Objectives: The gold standard for the evaluation of brain arteriovenous malformation (AVM) nidus occlusion after stereotactic radiosurgery is digital subtraction angiography (DSA), which is an invasive technique. We evaluated the role of MRI, especially arterial spin labeling (ASL) in the assessment of nidus occlusion after radiosurgery. DSA was used as the gold standard for comparison.

Conservative management of 661 patients with unruptured intracranial aneurysms: an observational study over 4 decades.

Objective: The management of unruptured intracranial aneurysms (UIAs) remains controversial, with a scarcity of long-term natural history data on conservative management. Therefore, the authors attempted to identify risk factors for aneurysm rupture in a cohort of consecutive patients with UIAs.

Methods: In this retrospective observational study, the authors analyzed 661 patients with 767 exclusively UIAs who were conservatively managed at their tertiary referral center between 1984 and 2020.

Assessment of AI-accelerated T2-weighted brain MRI, based on clinical ratings and image quality evaluation.

Objective: To compare clinical ratings and signal-to-noise ratio (SNR) measures of a commercially available Deep Learning-based MRI reconstruction method (T2) against conventional T2- turbo spin echo brain MRI (T2).

Materials And Methods: 100 consecutive patients with various neurological conditions underwent both T2 and T2 on a Siemens Vida 3 T scanner with a 64-channel head coil in the same examination. Acquisition times were 3.

No brain MRI abnormalities after mild-to-moderate COVID-19: an observational study.

Purpose: To assess COVID-19-related morphological brain changes in individuals who recovered from mild-to-moderate COVID-19.

Method: This prospective cohort study enrolled 112 consecutive individuals who recovered from mild-to-moderate COVID-19 and underwent an MRI of the brain between September 2020 and March 2022. MR exams were consistently obtained on a clinical 3T MR scanner in all study participants and 50 age-matched matched controls.

Effect of cumulative dexamethasone dose on the outcome of patients with radiosurgically treated brain metastases in the era of modern oncological therapy.

Objective: Recent treatment guidelines state that in patients with asymptomatic brain metastases (BMs), local treatment can be delayed until there is evidence of intracranial progression. However, while patients with symptomatic BMs typically require dexamethasone treatment, recent data on the impact of this medication on the outcomes of patients with BMs are lacking. Therefore, the authors conducted a prospective study to evaluate concomitant dexamethasone treatment in a population of radiosurgically treated patients with BMs from non-small cell lung cancer (NSCLC).

Evaluating multiple sclerosis severity loci 30 years after a clinically isolated syndrome.

The first genome-wide significant multiple sclerosis severity locus, rs10191329, has been pathologically linked to cortical lesion load and brain atrophy. However, observational cohorts such as MSBase have not replicated associations with disability outcomes, instead finding other loci. We evaluated rs10191329 and MSBase loci in a unique cohort of 53 people followed for 30 years after a clinically isolated syndrome, with deep clinical phenotyping and MRI measures of inflammation and neurodegeneration.

Paramagnetic rim lesions are associated with inner retinal layer thinning and progression independent of relapse activity in multiple sclerosis.

Background And Purpose: Paramagnetic rim lesions (PRLs) are chronic active lesions associated with a severe disease course in multiple sclerosis (MS). This study was undertaken to investigate an association between retinal layer thinning (annualized loss of peripapillary retinal nerve fiber layer [aLpRNFL] and ganglion cell-inner plexiform layer [aLGCIPL]) and PRLs in patients with MS (pwMS).

Methods: In this study, pwMS with brain magnetic resonance imaging and ≥2 optical coherence tomography scans were included.

Association of Disease-Modifying Treatment With Outcome in Patients With Relapsing Multiple Sclerosis and Isolated MRI Activity.

Background And Objectives: Isolated value of MRI metrics in relapsing multiple sclerosis (RMS) as a surrogate marker of response to disease-modifying treatment (DMT) and, thus, as decision criteria for DMT escalation in the absence of clinical signs of disease activity is still a matter of debate. The aim of this study was to investigate whether DMT escalation based on isolated MRI activity affects clinical outcome.

Methods: Combining data from 5 MS centers in Austria and Switzerland, we included patients with RMS aged at least 18 years who (1) had initiated first-line, low-to-moderate-efficacy DMT (interferon β, glatiramer acetate, teriflunomide, or dimethyl fumarate) continued for ≥12 months, (2) were clinically stable (no relapses or disability progression) on DMT for 12 months, (3) had MRI at baseline and after 12 months on DMT, and (4) had available clinical follow-up for ≥2 years after the second MRI.

Feasibility, tolerability, and first experience of intracystic treatment with peginterferon alfa-2a in patients with cystic craniopharyngioma.

Background: Children with craniopharyngiomas (CPs) typically suffer from a life-long chronic disease. The younger the child, the more vulnerable the maturing brain is to invasive therapies such as surgery or radiotherapy. Therefore, treatment modalities facilitating avoidance or delay of invasive therapies are beneficial for these patients.

The ageing central nervous system in multiple sclerosis: the imaging perspective.

The interaction between ageing and multiple sclerosis is complex and carries significant implications for patient care. Managing multiple sclerosis effectively requires an understanding of how ageing and multiple sclerosis impact brain structure and function. Ageing inherently induces brain changes, including reduced plasticity, diminished grey matter volume, and ischaemic lesion accumulation.

The evolving contribution of MRI measures towards the prediction of secondary progressive multiple sclerosis.

Background: In multiple sclerosis (MS), both lesion accrual and brain atrophy predict clinical outcomes. However, it is unclear whether these prognostic features are equally relevant throughout the course of MS. Among 103 participants recruited following a clinically isolated syndrome (CIS) and followed up over 30 years, we explored (1) whether white matter lesions were prognostically more relevant earlier and brain atrophy later in the disease course towards development of secondary progressive (SP) disease; (2) if so, when the balance in prognostic contribution shifts and (3) whether optimised prognostic models predicting SP disease should include different features dependent on disease duration.

Grey Matter Atrophy and its Relationship with White Matter Lesions in Patients with Myelin Oligodendrocyte Glycoprotein Antibody-associated Disease, Aquaporin-4 Antibody-Positive Neuromyelitis Optica Spectrum Disorder, and Multiple Sclerosis.

Objective: To evaluate: (1) the distribution of gray matter (GM) atrophy in myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD), aquaporin-4 antibody-positive neuromyelitis optica spectrum disorder (AQP4+NMOSD), and relapsing-remitting multiple sclerosis (RRMS); and (2) the relationship between GM volumes and white matter lesions in various brain regions within each disease.

Methods: A retrospective, multicenter analysis of magnetic resonance imaging data included patients with MOGAD/AQP4+NMOSD/RRMS in non-acute disease stage. Voxel-wise analyses and general linear models were used to evaluate the relevance of regional GM atrophy.

Clinical heterogeneity within the ALS-FTD spectrum in a family with a homozygous optineurin mutation.

Objective: Mutations in the gene encoding for optineurin (OPTN) have been reported in the context of different neurodegenerative diseases including the amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) spectrum. Based on single case reports, neuropathological data in OPTN mutation carriers have revealed transactive response DNA-binding protein 43 kDa (TDP-43) pathology, in addition to accumulations of tau and alpha-synuclein. Herein, we present two siblings from a consanguineous family with a homozygous frameshift mutation in the OPTN gene and different clinical presentations.

An evaluation of physical and augmented patient-specific intracranial aneurysm simulators on microsurgical clipping performance and skills: a randomized controlled study.

Objective: In the era of flow diversion, there is an increasing demand to train neurosurgeons outside the operating room in safely performing clipping of unruptured intracranial aneurysms. This study introduces a clip training simulation platform for residents and aspiring cerebrovascular neurosurgeons, with the aim to visualize peri-aneurysm anatomy and train virtual clipping applications on the matching physical aneurysm cases.

Methods: Novel, cost-efficient techniques allow the fabrication of realistic aneurysm phantom models and the additional integration of holographic augmented reality (AR) simulations.

Implementation of a 7T Epilepsy Task Force consensus imaging protocol for routine presurgical epilepsy work-up: effect on diagnostic yield and lesion delineation.

Objective: Recently, the 7 Tesla (7 T) Epilepsy Task Force published recommendations for 7 T magnetic resonance imaging (MRI) in patients with pharmaco-resistant focal epilepsy in pre-surgical evaluation. The objective of this study was to implement and evaluate this consensus protocol with respect to both its practicability and its diagnostic value/potential lesion delineation surplus effect over 3 T MRI in the pre-surgical work-up of patients with pharmaco-resistant focal onset epilepsy.

Methods: The 7 T MRI protocol consisted of T1-weighted, T2-weighted, high-resolution-coronal T2-weighted, fluid-suppressed, fluid-and-white-matter-suppressed, and susceptibility-weighted imaging, with an overall duration of 50 min.

Paramagnetic rim lesions lead to pronounced diffuse periplaque white matter damage in multiple sclerosis.

Background: Paramagnetic rim lesions (PRLs) are an imaging biomarker in multiple sclerosis (MS), associated with a more severe disease.

Objectives: To determine quantitative magnetic resonance imaging (MRI) metrics of PRLs, lesions with diffuse susceptibility-weighted imaging (SWI)-hypointense signal (DSHLs) and SWI-isointense lesions (SILs), their surrounding periplaque area (PPA) and the normal-appearing white matter (NAWM).

Methods: In a cross-sectional study, quantitative MRI metrics were measured in people with multiple sclerosis (pwMS) using the multi-dynamic multi-echo (MDME) sequence post-processing software "SyMRI.

Use of gadolinium-based contrast agents in multiple sclerosis: a review by the ESMRMB-GREC and ESNR Multiple Sclerosis Working Group.

Magnetic resonance imaging (MRI) is the most sensitive technique for detecting inflammatory demyelinating lesions in multiple sclerosis (MS) and plays a crucial role in diagnosis and monitoring treatment effectiveness, and for predicting the disease course. In clinical practice, detection of MS lesions is mainly based on T2-weighted and contrast-enhanced T1-weighted sequences. Contrast-enhancing lesions (CEL) on T1-weighted sequences are related to (sub)acute inflammation, while new or enlarging T2 lesions reflect the permanent footprint from a previous acute inflammatory demyelinating event.

The relation of sarcopenia and disability in multiple sclerosis.

Background: The relation of sarcopenia and disability in MS is unknown.

Objective: To investigate the relation of temporal muscle thickness (TMT) and disability.

Methods: A cohort of 132 people who presented with a clinically isolated syndrome (CIS) suggestive of MS at a mean age of 30.