Cerebral hypomyelination associated with biallelic variants of FIG4.

The lipid phosphatase gene FIG4 is responsible for Yunis-Varón syndrome and Charcot-Marie-Tooth disease Type 4J, a peripheral neuropathy. We now describe four families with FIG4 variants and prominent abnormalities of central nervous system (CNS) white matter (leukoencephalopathy), with onset in early childhood, ranging from severe hypomyelination to mild undermyelination, in addition to peripheral neuropathy. Affected individuals inherited biallelic FIG4 variants from heterozygous parents.

Should we be moving to a national standardized non-gadolinium MR imaging protocol for the surveillance of vestibular schwannomas?

Objectives:: To examine whether the model of Getting It Right First Time (GIRFT) could be relevant to the surveillance of non-operated vestibular schwannomas (vs) by testing the following hypotheses: (1) in the UK there is a great variation in the imaging protocol for the follow-up of vs; (2) high-resolution, T weighted MRI (HRT W-MRI) has an equivalent accuracy to gadolinium-enhanced T weighted MRI (Gd-MRI) in the assessment of vs size and; (3) imaging with HRT W-MRI rather than Gd-MRI could offer financial savings.

Methods:: Two neuroradiologists independently performed measurements of 50 vs imaged with HRT W-MRI and Gd-MRI. Differences in mean tumour measurements between HRT W-MRI and Gd-MRI were determined, as were intra- and interobserver concordance.

Imaging assessment of traumatic brain injury.

Traumatic brain injury (TBI) constitutes injury that occurs to the brain as a result of trauma. It should be appreciated as a heterogeneous, dynamic pathophysiological process that starts from the moment of impact and continues over time with sequelae potentially seen many years after the initial event. Primary traumatic brain lesions that may occur at the moment of impact include contusions, haematomas, parenchymal fractures and diffuse axonal injury.

Understanding MRI: basic MR physics for physicians.

More frequently hospital clinicians are reviewing images from MR studies of their patients before seeking formal radiological opinion. This practice is driven by a multitude of factors, including an increased demand placed on hospital services, the wide availability of the picture archiving and communication system, time pressures for patient treatment (eg, in the management of acute stroke) and an inherent desire for the clinician to learn. Knowledge of the basic physical principles behind MRI is essential for correct image interpretation.

Magnetic resonance spectroscopy of the brain.

Proton magnetic resonance (MR) spectroscopy of the brain is a non-invasive, in vivo technique that allows investigation into regional chemical environments. Its complementary use with MR imaging sequences provides valuable insights into brain tumour characteristics, progression and response to treatment. Additionally, its sensitivity to brain dysfunction in the presence of apparently normal structural imaging has galvanised interest in its use as a biomarker of neurodegenerative disorders such as Alzheimer's disease.

Magnetic resonance imaging biomarkers in patients with progressive ataxia: current status and future direction.

A diagnostic challenge commonly encountered in neurology is that of an adult patient presenting with ataxia. The differential is vast and clinical assessment alone may not be sufficient due to considerable overlap between different causes of ataxia. Magnetic resonance (MR)-based biomarkers such as voxel-based morphometry, MR spectroscopy, diffusion-weighted and diffusion-tensor imaging and functional MR imaging are gaining great attention for their potential as indicators of disease.

Recent advances in imaging epilepsy.

Around 30 000 people are diagnosed with epilepsy every year in the UK. While many of these respond well to antiepileptic drugs, 20-30% have seizures that are resistant to best medical treatment. For these patients it is important to identify any structural abnormalities responsible for generating seizure activity that may be amenable to surgical resection.

Medulloblastoma in childhood: revisiting intrathecal therapy in infants and children.

Introduction: Intrathecal chemotherapy is being explored in medulloblastoma in pre-school children as part of brain-sparing strategies and as an alternative to unacceptably neurotoxic cranio-spinal radiotherapy. The range of drugs suitable for this route of administration is restricted by the lack of research evidence of pharmacological suitability and efficacy of other drugs in medulloblastoma.

Methods: Ideal clinical, biological, physicochemical and pharmaceutical properties for intrathecal administration were defined through literature review of pharmaceutical texts, Medline, Embase and consulting the manufacturers.