Cerebellar ataxia, neuropathy, vestibular areflexia syndrome: genetic and clinical insights
Purpose of review
This review aims to summarise the present cerebellar ataxia, neuropathy, vestibular ataxia syndrome (CANVAS) literature, providing both clinical and genetic insights that might facilitate the timely clinical and genetic diagnosis of this disease.
Recent findings
Recent advancements in the range of the clinical features of CANVAS have aided the development of a broader, more well-defined clinical diagnostic criteria. Additionally, the identification of a biallelic repeat expansion in RFC1 as the cause of CANVAS and a common cause of late-onset ataxia has opened the door to the potential discover...
Source: Current Opinion in Neurology - July 20, 2021 Category: Neurology Tags: MOVEMENT DISORDERS: Edited by Per Svenningsson Source Type: research
Impulse control disorders and related behaviors in Parkinson's disease: risk factors, clinical and genetic aspects, and management
Purpose of review
To review recent findings and research directions on impulse control disorders and related behaviors (ICDRBs) in Parkinson's disease (PD).
Recent findings
Longitudinal studies found that prevalence increases during PD progression, incident ICDRBs being around 10% per year in patients treated with dopaminergic therapies. Screening tools and severity scales already developed have been validated and are available in several countries and languages. The main clinical risk factors include young age, male gender, type, doses and duration of dopaminergic therapy, PD motor severity and dyskinesia, depr...
Source: Current Opinion in Neurology - July 20, 2021 Category: Neurology Tags: MOVEMENT DISORDERS: Edited by Per Svenningsson Source Type: research
Fragile X-associated tremor/ataxia syndrome: pathophysiology and management
Purpose of review
The purpose of this paper is to review the prevalence, pathophysiology, and management of fragile X-associated tremor/ataxia syndrome (FXTAS).
Recent findings
The pathophysiology of FXTAS involves ribonucleic acid (RNA) toxicity due to elevated levels of the premutation-expanded CGG (eoxycytidylate-deoxyguanylate-deoxyguanylate)-repeat FMR1 mRNA, which can sequester a variety of proteins important for neuronal function. A recent analysis of the inclusions in FXTAS demonstrates elevated levels of several proteins, including small ubiquitin-related modifiers 1/2 (SUMO1/2), that target molecules f...
Source: Current Opinion in Neurology - July 20, 2021 Category: Neurology Tags: MOVEMENT DISORDERS: Edited by Per Svenningsson Source Type: research
Editorial: Update on movement disorders
No abstract available (Source: Current Opinion in Neurology)
Source: Current Opinion in Neurology - July 20, 2021 Category: Neurology Tags: MOVEMENT DISORDERS: Edited by Per Svenningsson Source Type: research
Update on neuroimaging in non-Alzheimer's disease dementia: a focus on the Lewy body disease spectrum
Purpose of review
An accurate differential diagnosis between Alzheimer's disease (AD) and non-AD dementia is of paramount importance to study disease mechanisms, define prognosis, and select patients for disease-specific treatments. The purpose of the present review is to describe the most recent neuroimaging studies in Lewy body disease spectrum (LBDS), focusing on differences with AD.
Recent findings
Different neuroimaging methods are used to investigate patterns of alterations, which can be helpful to distinguish LBDS from AD. Positron emission tomography radiotracers and advanced MRI structural and functiona...
Source: Current Opinion in Neurology - July 20, 2021 Category: Neurology Tags: NEUROIMAGING: Edited by Massimo Filippi Source Type: research
Update on neuroimaging in Alzheimer's disease
Purpose of review
The purpose of this review was to discuss the contribution of the most recent neuroimaging studies to our understanding of the mechanisms underlying Alzheimer's disease.
Recent findings
Studies have applied cross-sectional and longitudinal positron emission tomography (PET), structural and resting-state functional magnetic resonance imaging to primarily investigate (1) how Alzheimer's disease pathological hallmarks like tau and amyloid-beta build up and spread across the brain at different disease stage and in different disease phenotypes and (2) how the spreading of these proteins is related t...
Source: Current Opinion in Neurology - July 20, 2021 Category: Neurology Tags: NEUROIMAGING: Edited by Massimo Filippi Source Type: research
Update on neuroimaging for categorization of Parkinson's disease and atypical parkinsonism
The objective of this review is to present the work of the last three years in the field of imaging for diagnostic categorization of parkinsonian syndromes focusing on progressive supranuclear palsy (PSP) and multiple system atrophy (MSA).
Recent findings
Two main complementary approaches are being pursued. The first seeks to develop and validate manual qualitative or semi-quantitative imaging markers that can be easily used in clinical practice. The second is based on quantitative measurements of magnetic resonance imaging abnormalities integrated in a multimodal approach and in automatic categorization machine lea...
Source: Current Opinion in Neurology - July 20, 2021 Category: Neurology Tags: NEUROIMAGING: Edited by Massimo Filippi Source Type: research
Central vein sign and iron rim in multiple sclerosis: ready for clinical use?
Purpose of review
To summarize recent evidence from the application of susceptibility-based MRI sequences to investigate the ‘central vein sign’ (CVS) and ‘iron rim’ as biomarkers to improve the diagnostic work-up of multiple sclerosis (MS) and predict disease severity.
Recent findings
The CVS is a specific biomarker for MS being detectable from the earliest phase of the disease. A threshold of 40% of lesions with the CVS can be optimal to distinguish MS from non-MS patients. Iron rim lesions, reflecting chronic active lesions, develop in relapsing-remitting MS patients and persist in progressive MS. The...
Source: Current Opinion in Neurology - July 20, 2021 Category: Neurology Tags: NEUROIMAGING: Edited by Massimo Filippi Source Type: research
Update on neuroimaging in brain tumours
Purpose of review
To highlight some of the recent advances in magnetic resonance imaging (MRI), in terms of acquisition, analysis, and interpretation for primary diagnosis, treatment planning, and surveillance of patients with a brain tumour.
Recent findings
The rapidly emerging field of radiomics associates large numbers of imaging features with clinical characteristics. In the context of glioma, attempts are made to correlate such imaging features with the tumour genotype, using so-called radiogenomics. The T2-fluid attenuated inversion recovery (FLAIR) mismatch sign is an easy to apply imaging feature for ide...
Source: Current Opinion in Neurology - July 20, 2021 Category: Neurology Tags: NEUROIMAGING: Edited by Massimo Filippi Source Type: research
Update on neuroimaging in disorders of consciousness
Purpose of review
Neuroimaging has acquired a prominent place in the assessment of disorders of consciousness (DoC). Rapidly evolving technologies combined with state-of-the-art data analyses open new horizons to probe brain activity, but selecting appropriate imaging modalities from the plethora of available techniques can be challenging for clinicians. This update reviews selected advances in neuroimaging that demonstrate clinical relevance and translational potential in the assessment of severely brain-injured patients with DoC.
Recent findings
Magnetic resonance imaging and high-density electroencephalograph...
Source: Current Opinion in Neurology - July 20, 2021 Category: Neurology Tags: NEUROIMAGING: Edited by Massimo Filippi Source Type: research
Unveiling the neuroimaging-genetic intersections in the human brain
Purpose of review
The prevalence of new public datasets of brain-wide and single-cell transcriptome data has created new opportunities to link neuroimaging findings with genetic data. The aim of this study is to present the different methodological approaches that have been used to combine this data.
Recent findings
Drawing from various sources of open access data, several studies have been able to correlate neuroimaging maps with spatial distribution of brain expression. These efforts have enabled researchers to identify functional annotations of related genes, identify specific cell types related to brain phen...
Source: Current Opinion in Neurology - July 20, 2021 Category: Neurology Tags: NEUROIMAGING: Edited by Massimo Filippi Source Type: research
Data-driven approaches to neuroimaging biomarkers for neurological and psychiatric disorders: emerging approaches and examples
Purpose of review
The ‘holy grail’ of clinical applications of neuroimaging to neurological and psychiatric disorders via personalized biomarkers has remained mostly elusive, despite considerable effort. However, there are many reasons to continue to be hopeful, as the field has made remarkable advances over the past few years, fueled by a variety of converging technical and data developments.
Recent findings
We discuss a number of advances that are accelerating the push for neuroimaging biomarkers including the advent of the ‘neuroscience big data’ era, biomarker data competitions, the development of mo...
Source: Current Opinion in Neurology - July 20, 2021 Category: Neurology Tags: NEUROIMAGING: Edited by Massimo Filippi Source Type: research
Editorial introductions
No abstract available (Source: Current Opinion in Neurology)
Source: Current Opinion in Neurology - July 20, 2021 Category: Neurology Tags: EDITORIAL INTRODUCTIONS Source Type: research
Central nervous system infections and antimicrobial resistance: an evolving challenge
Purpose of review
Antimicrobial resistance is an increasing threat to patients also in nosocomial central nervous system (CNS) infections. The present review focusses on optimizing intravenous treatment in order to achieve sufficient concentrations of antibiotics in the different compartments of the CNS when the causative pathogens have reduced sensitivity to antibiotics or/and the impairment of the blood–cerebrospinal fluid (CSF) and blood–brain barrier is mild.
Recent findings
Experience has been gathered with treatment protocols for several established antibiotics using increased doses or continuous inste...
Source: Current Opinion in Neurology - May 11, 2021 Category: Neurology Tags: CNS INFLAMMATORY DISORDERS: INFECTIOUS DISEASES: Edited by Erich Schmutzhard Source Type: research
Invasive neuromonitoring and neurological intensive care unit management in life-threatening central nervous system infections
Purpose of review
Patients with infectious diseases of the central nervous system (CNS) commonly require treatment in the intensive care unit (ICU). In a subset of patients with a life-threatening course, a more aggressive and invasive management is required. Treatment relies on the expertise of the intensivists as most recommendations are currently not based on a high level of evidence.
Recent findings
Published data suggest that an invasive brain-focused management should be considered in life-threatening CNS infections. Brain resuscitation by adequate control of intracranial pressure (ICP) and optimization of...
Source: Current Opinion in Neurology - May 11, 2021 Category: Neurology Tags: CNS INFLAMMATORY DISORDERS: INFECTIOUS DISEASES: Edited by Erich Schmutzhard Source Type: research
