The Pattern of Retinal Ganglion Cell Loss in Wolfram Syndrome is Distinct From Mitochondrial Optic Neuropathies.

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).

Design: Retrospective, comparative cohort study.

Methods: We reviewed 25 patients with WS and 33 age-matched patients affected by OPA1-related DOA.

Case Report: Off-Label Liraglutide Use in Children With Wolfram Syndrome Type 1: Extensive Characterization of Four Patients.

Wolfram syndrome type 1 is a rare recessive monogenic form of insulin-dependent diabetes mellitus with progressive neurodegeneration, poor prognosis, and no cure. Based on preclinical evidence we hypothesized that liraglutide, a glucagon-like peptide-1 receptor agonist, may be repurposed for the off-label treatment of Wolfram Syndrome type 1. We initiated an off-label treatment to investigate the safety, tolerability, and efficacy of liraglutide in pediatric patients with Wolfram Syndrome type 1.

The effects of the functional interplay between the Default Mode and Executive Control Resting State Networks on cognitive outcome in preterm born infants at 6 months of age.

Preterm birth can affect cognitive functions, such as attention or more generally executive control mechanisms, with severity in impairments proportional to prematurity. The functional cross-talk between the Default Mode (DMN) and Executive Control (ECN) networks mirrors the integrity of cognitive processing and is directly related to brain development. In this study, a cohort of 20 preterm-born infants was investigated using rs-fMRI.

Paramagnetic Rim Lesions are Specific to Multiple Sclerosis: An International Multicenter 3T MRI Study.

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.

Central vein sign differentiates Multiple Sclerosis from central nervous system inflammatory vasculopathies.

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).

Leptomeningeal gadolinium enhancement across the spectrum of chronic neuroinflammatory diseases.

Objective: To assess the prevalence and the specificity of leptomeningeal enhancement (LME) on postcontrast T2-fluid-attenuated inversion recovery (FLAIR) MRI in multiple sclerosis (MS) compared to a variety of inflammatory and noninflammatory neurologic conditions assessed in 2 academic research hospitals.

Methods: On 3T postcontrast T2-FLAIR images, the presence of focal gadolinium enhancement was evaluated in the leptomeningeal compartment in 254 people with non-MS neurologic conditions or neurotropic viral infections. Based on their clinical diagnosis, patients were grouped as follows: (1) other-than-MS inflammatory neurologic diseases; (2) noninflammatory neurologic diseases; (3) human T-lymphotropic virus (HTLV)-infected; (4) HIV-infected; (5) healthy volunteers.

Maturation of preterm newborn brains: a fMRI-DTI study of auditory processing of linguistic stimuli and white matter development.

To evaluate brain development longitudinally in premature infants without abnormalities as compared to healthy full-term newborns, we assessed fMRI brain activity patterns in response to linguistic stimuli and white matter structural development focusing on language-related fibres. A total sample of 29 preterm newborns and 26 at term control newborns underwent both fMRI and DTI. Griffiths test was performed at 6 months of corrected age to assess development.

Treatment of myelitis in Behçet's disease with rituximab.

Behçet's disease (BD) is a chronic inflammatory disorder that involves the parenchymal central nervous system (neuro-BD, NBD) approximately in 5-49% of patients, causing lesions rarely located in the spinal cord (SC). We report the first case of NBD-myelitis treated with intravenous rituximab. A 41-year-old man affected by BD presented with mild paraparesis with a miliary involvement and a 'net-like' gadolinium enhancement (Gde) of the SC.

Detection of cerebral metastases on magnetic resonance imaging: intraindividual comparison of gadobutrol with gadopentetate dimeglumine.

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.

Prenatal diagnosis by 3D ultrasound and MRI of an unusual malformation of cortical development with brain-in-brain appearance.

A 31-year-old pregnant woman was referred for isolated mild ventriculomegaly and failure to visualize the left lateral ventricle's anterior horn on second trimester sonography (US). Three-dimensional US suspected a frontal lesion deviating the midline. MRI revealed a mass compressing the ventricle.

High relaxivity contrast agents in MR angiography of the carotid arteries.

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.

MR angiography of the carotid arteries and intracranial circulation: advantage of a high relaxivity contrast agent.

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.