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PURPOSE: To describe the clinical phenotype of a cohort of patients with Wolfram syndrome (WS), focusing on the pattern of optic atrophy correlated with brain magnetic resonance imaging (MRI) measurements, as compared with patients with OPA1-related dominant optic atrophy (DOA).center dot DESIGN: Retrospective, comparative cohort study.center dot METHODS: We reviewed 25 patients with WS and 33 age-matched patients affected by OPA1-related DOA. Ophthalmologic, neurologic, endocrinologic, and MRI data from patients with WS were retrospectively retrieved. Ophthalmologic data were compared with data from patients with OPA1-related DOA and further analyzed for age dependency dividing patients in age quartiles. In a subgroup of patients with WS, we correlated the structural damage assessed by optical coherence tomography (OCT) with brain MRI morphologic measurements. Visual acuity (VA), visual field mean defect (MD), retinal nerve fiber layer (RNFL), and ganglion cell layer (GCL) thickness were assessed by OCT and MRI morphologic measurements of anterior and posterior visual pathways.center dot RESULTS: Optic atrophy was present in 100% of patients with WS. VA, MD, and RNFL thickness loss were worse in patients with WS with a faster decline since early age as compared with patients with DOA, who displayed a more stable visual function over the years. Conversely, GCL sectors were overall thinner in patients with DOA since early age compared to patients with WS, in which GCL thickness started to decline later in life. The neuroradiologic subanalysis on 11 patients with WS exhibited bilateral thinning of the anterior optic pathway, especially the prechiasmatic optic nerves and optic tracts. Optic tract thinning was significantly correlated with GCL thickness but not with RNFL parameters.center dot CONCLUSIONS: Our results showed a generally more severe and diffuse degeneration of both anterior and posterior visual pathways in patients with WS, with fast deterioration of visual function and structural OCT parameters since early age. The pattern observed with OCT suggests that retinal ganglion cell axonal degeneration (ie, RNFL) precedes cellular body atrophy (ie, GCL) by about a decade. This differs substantially from DOA, in which a more stable visual function is evident with predominant early loss of GCL, indirectly supporting the lack of a primary mitochondrial dysfunction in patients with WS. (Am J Ophthalmol 2022;241: 206-216. (c) 2022 Elsevier Inc. All rights reserved.)

In multiple sclerosis (MS), a subset of chronic active white matter lesions are identifiable on magnetic resonance imaging by their paramagnetic rims, and increasing evidence supports their association with severity of clinical disease. We studied their potential role in differential diagnosis, screening an international multicenter clinical research-based sample of 438 individuals affected by different neurological conditions (MS, other inflammatory, infectious, and non-inflammatory conditions). Paramagnetic rim lesions, rare in other neurological conditions (52% of MS vs 7% of non-MS cases), yielded high specificity (93%) in differentiating MS from non-MS. Future prospective multicenter studies should validate their role as a diagnostic biomarker. ANN NEUROL 2020;88:1034-1042.

Objectives: In multiple sclerosis (MS), magnetic resonance imaging (MRI) is a sensitive tool for detecting white matter lesions, but its diagnostic specificity is still suboptimal; ambiguous cases are frequent in clinical practice. Detection of perivenular lesions in the brain (the “central vein sign”) improves the pathological specificity of MS diagnosis, but comprehensive evaluation of this MRI biomarker in MS-mimicking inflammatory and/or autoimmune diseases, such as central nervous system (CNS) inflammatory vasculopathies, is lacking. In a multicenter study, we assessed the frequency of perivenular lesions in MS versus systemic autoimmune diseases with CNS involvement and primary angiitis of the CNS (PACNS). Methods: In 31 patients with inflammatory CNS vasculopathies and 52 with relapsing–remitting MS, 3-dimensional T2*-weighted and T2–fluid-attenuated inversion recovery images were obtained during a single MRI acquisition after gadolinium injection. For each lesion, the central vein sign was evaluated according to consensus guidelines. For each patient, lesion count, volume, and brain location, as well as fulfillment of dissemination in space MRI criteria, were assessed. Results: MS showed higher frequency of perivenular lesions (median = 88%) than did inflammatory CNS vasculopathies (14%), without overlap between groups or differences between 3T and 1.5T MRI. Among inflammatory vasculopathies, Behçet disease showed the highest median frequency of perivenular lesions (34%), followed by PACNS (14%), antiphospholipid syndromes (12%), Sjögren syndrome (11%), and systemic lupus erythematosus (0%). When a threshold of 50% perivenular lesions was applied, central vein sign discriminated MS from inflammatory vasculopathies with a diagnostic accuracy of 100%. Interpretation: The central vein sign differentiates inflammatory CNS vasculopathies from MS at standard clinical magnetic field strengths. Ann Neurol 2018;83:283–294., SCOPUS: ar.j, info:eu-repo/semantics/published

Background: Contrast-enhanced magnetic resonance (MR) imaging with gadolinium-based contrast agents is widely used for the detection of cerebral metastases with standard contrast agents. Newer developments in MR contrast agents have led to a higher relaxivity and/or concentration for these agents. Purpose: To assess the effectiveness of a standard dose of 1.0 M gadobutrol compared with a standard dose of gadopentetate dimeglumine for the MR detection of brain metastases. Material and Methods: 27 patients with at least one cerebral metastasis were examined twice with contrast-enhanced MR imaging, using gadobutrol at 0.1 ml/kg and gadopentetate dimeglumine at 0.2 ml/kg (i.e., identical gadolinium dosage of 0.1 mmol/kg bodyweight). The interval between examinations was 18 hours, and the order of injection was fully randomized. Images were acquired using a three-dimensional (3D) fast gradient echo sequence, and evaluated in blinded fashion by two experienced neuroradiologists in consensus in terms of the total number of lesions detected at each examination in each patient and qualitatively in terms of the lesion conspicuity observed. Results: A total of 67 lesions were detected after gadobutrol compared with 65 lesions detected after gadopentetate dimeglumine. In two patients, a lesion was seen only after gadobutrol. Qualitative comparison of images revealed improved lesion conspicuity after gadobutrol in 10/27 cases compared with 0/27 cases after gadopentetate dimeglumine, and equivalent conspicuity in 17/27 cases ( P=0.002, gadobutrol vs. gadopentetate dimeglumine). Conclusion:At equal gadolinium dosage, gadobutrol appears to offer significant advantages over gadopentetate dimeglumine for the visualization of brain metastases, with particular benefit for improving the conspicuity of detected lesions.

Magnetic Resonance Angiography (MRA) is one of the most practical diagnostic imaging modalities in the field of neurovascular imaging where risks associated with catheter angiography are high. Evaluation of the extracranial supraortic vessels, and in particular the carotid arteries, is the major field of application for MRA. Before the development of rapid contrast-enhanced (CE) acquisition sequences, the major limitations of MRA pertaining to the carotid arteries was the limited volume of study when 3D time-of-flight (TOF) images were acquired, and the saturation effects together with low spatial resolution and movement artifacts when 2D TOF images were acquired. Although technical improvements helped overcome some of these limitations, MRA was still not considered a valid diagnostic alternative to DSA for the evaluation of carotid artery stenosis until the advent of CE acquisitions. Most published studies on CE-MRA of the carotid arteries have been performed with standard gadolinium-based chelates which have similar r1 relaxivity values. Newer gadolinium chelates such as gadobenate dimeglumine (Multihance, Gd-BOPTA, Bracco) have higher intravascular r1 relaxivity than other agents such as Gd-DTPA. This leads to higher vascular peak enhancement of longer duration which has proven beneficial for improving vascular contrast. CE-MRA is today considered a highly suitable replacement for conventional MRA techniques and DSA for the evaluation of extracranial carotid artery disease. Compared with unenhanced MRA sequences, CE-MRA permits complete and reliable evaluation of the internal carotid artery from the bifurcation to the intracranial segment. Moreover, the technique offers better overall accuracy for the depiction of tight stenosis and more confident diagnosis of real carotid occlusion versus subocclusive stenosis.

Several studies have shown the usefulness of contrast-enhanced MR angiography (CE-MRA) for imaging the supraortic vessels, and, as a consequence, it has rapidly become a routine imaging modality. The main advantage over unenhanced techniques is the possibility to acquire larger volumes, allowing demonstration of the carotid artery from its origin to the intracranial portion. Most published studies on CE-MRA of the carotid arteries have been performed with standard Gd-based chelates whose T1 relaxivity values are similar. Recently new gadolinium chelates such as gadobenate dimeglumine (Gd-BOP-TA, MultiHance; Bracco Imaging, Milan, Italy) have been developed which have markedly higher intravascular T1 relaxivity values. When administered at an equivalent dose to that of a standard agent, these newer contrast agents produce significantly greater intravascular signal enhancement. The availability of an appropriate high-relaxivity contrast agent might also help to overcome some of the intrinsic technical problems (e. g. those related to flow) that affect time-of-flight (TOF) and phase contrast (PC) MR angiography of the intracranial vasculature. To avoid the problem of superimposition of veins, ultrafast gradient echo MRA techniques with very short TR and TE have been developed. Although the precise sequence parameters vary between manufacturers, they are basically similar. The choice between performing a time-resolved or high spatial resolution CE-MRA examination depends upon the precise clinical application. The most common applications include the study of cerebral aneurysms, arteriovenous malformations, dural arteriovenous fistulas and dural venous diseases.