Current Opinion in Neurology

PURPOSE OF REVIEW: Tremor is a common neurological symptom with a plethora of potential etiologies. Apart from physiological tremor, the vast majority of tremor syndromes are linked to a pacemaker in the central nervous system (CNS) or, less common, in the peripheral nervous system. Myogenic tremor is a novel tremor entity, first reported in 2019 and believed to originate in the muscle itself. In this review, we describe the clinical properties of myogenic tremor and discuss its presumed pathogenesis on the basis of all of the patient cases published so far...

PURPOSE OF REVIEW: In recent years, there has been an intense debate in literature regarding the definition of the individual variants of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), their possible pathogenetic mechanisms, and impact in the diagnosis of CIDP. RECENT FINDINGS: The 2021 European Federation of Neurological Societies/Peripheral Nerve Society (EFNS/PNS) guidelines revised the definition of the individual CIDP variants and implemented their diagnostic criteria...

PURPOSE OF REVIEW: There has been an explosion of advancement in the field of genetic therapies. The first gene-based treatments are now in clinical practice, with several additional therapeutic programs in various stages of development. Novel technologies are being developed that will further advance the breadth and success of genetic medicine.Congenital myopathies are an important group of neuromuscular disorders defined by structural changes in the muscle and characterized by severe clinical symptoms caused by muscle weakness...

PURPOSE OF REVIEW: This paper reviews the clinical applications, technology, and evidence supporting the use of telemedicine devices and telehealth in neuromuscular disease. RECENT FINDINGS: The COVID-19 pandemic interrupted standard multidisciplinary care of patients with neuromuscular disease and created a need to adapt to remote care. Telemedicine applications were rapidly introduced and have rapidly proved an important tool in maintaining specialist care. This review presents the current data being gathered identifying the patients who benefit from telehealth applications, the appropriate type of telemedicine approach to specific conditions, the conditions needed to optimise telehealth approaches, and potential pitfalls and limitations in their use...

PURPOSE OF REVIEW: The diagnosis of Myelin-Associated Glycoprotein (MAG) neuropathy is based on the presence of elevated titers of IgM anti-MAG antibodies, which are typically associated with IgM monoclonal gammopathy, and a slowly progressive, distal demyelinating phenotype. The condition, however, can be under or over diagnosed in patients with mildly elevated antibody titers, absent monoclonal gammopathy, or an atypical presentation. The purpose of this paper is to examine recent advances in our understanding of the currently available anti-MAG antibody assays, their reliability, and their use in deciding treatment or monitoring the response to therapy...

PURPOSE OF REVIEW: Hypoventilation syndrome in neuromuscular disorders (NMDs) is primarily due to respiratory muscle weakness and results in increased morbidity and mortality. This article highlights current aspects of neuromuscular hypoventilation syndrome, including pathophysiology, clinical symptoms, assessment, respiratory involvement in various NMD, and causal and symptomatic treatments with an emphasis on recent research and advances. RECENT FINDINGS AND SUMMARY: New therapeutic agents have been developed within the last years, proving a positive effect on respiratory system...

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PURPOSE OF REVIEW: Since its outbreak in Wuhan, China in late 2019, coronavirus disease-19 (COVID-19) has become a global pandemic. The number of affected cases and deaths continues to rise. Primarily a respiratory illness, COVID-19 is now known to affect various organ systems including peripheral nerve and skeletal muscle. The purpose of this review is to discuss the scope of neuromuscular manifestations and complications of COVID-19. RECENT FINDINGS: Several neuromuscular conditions, including Guillain-Barré syndrome, rhabdomyolysis, and myositis, have been reported in patients infected with COVID-19, but even with a temporal association, a causal relationship remains unproven...

PURPOSE OF THE REVIEW: The neuromuscular complications of cancer therapy include chemotherapy-induced peripheral neurotoxicity (CIPN), immune-related neuromuscular complications to immune checkpoint inhibitors and radiation-induced neuropathy/plexopathy. With a wider focus on CIPN, we will discuss new pathogenetic insights, recent predictive biomarkers and emerging therapies for neuromuscular complications of cancer therapy. RECENT FINDINGS: Findings from recent preclinical studies have improved our knowledge on new CIPN pathogenetic pathways, including the activation of senescence-like processes in neurons, axonal degeneration and neuroinflammation...

PURPOSE OF REVIEW: This review focuses on the current insights and developments in neuralgic amyotrophy (NA), an auto-immune multifocal peripheral nervous system disorder that leaves many patients permanently impaired if not recognized and treated properly. RECENT FINDINGS: NA is not as rare as previously thought. The phenotype is broad, and recent nerve imaging developments suggest that NA is the most common cause of acute anterior or posterior interosseous nerve palsy...

PURPOSE: 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 more sophisticated algorithms including 'guided' data-driven approaches that facilitate automation of network-based analyses, dynamic connectivity, and deep learning...

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...

PURPOSE OF REVIEW: To provide an update on the role of Ataxin-2 gene (ATXN2) in health and neurological diseases. RECENT FINDINGS: There is a growing complexity emerging on the role of ATXN2 and its variants in association with SCA2 and several other neurological diseases. Polymorphisms and intermediate cytosine adenine guanine alleles in ATXN2 establish this gene as a powerful modulator of neurological diseases including lethal neurodegenerative conditions such as motor neuron disease, spinocerebellar ataxia 3 (SCA3), and peripheral nerve disease such as familial amyloidosis polyneuropathy...

PURPOSE OF REVIEW: The rapid developments in neuroimmunology reflect also on the field of movement disorders, where there is an ever expanding spectrum of new antibodies. This review focuses on the new neuronal antibodies, their clinical spectrum and recent pathophysiological insights. It gives an update on previous work about neuronal antibody-related movement disorders. RECENT FINDINGS: Phosphodiesterase 10A antibodies are a new marker of paraneoplastic chorea...

PURPOSE OF REVIEW: The multisystemic involvement of myotonic dystrophies (DMs) intricates disease monitoring, patients' care and trial design. This update of the multifaceted comorbidities observed in DMs aims to assist neurologists in the complex management of patients and to encourage further studies for still under-investigated aspects of the disease. RECENT FINDINGS: We reviewed the most recent studies covering pathogenesis and clinical aspects of extra-muscular involvement in DM1 and DM2...

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 for the proteasome, suggesting that some aspect(s) of proteasomal function may be altered in FXTAS...

PURPOSE OF THE REVIEW: The review focuses on the practical evaluation and management of patients with autonomic neuropathies. RECENT FINDINGS: Autonomic neuropathies are complex disorders and result in diverse clinical manifestations that affect the cardiovascular, gastrointestinal, urogenital, and sudomotor systems. The autonomic medical history is key when seeing a patient with suspected autonomic neuropathy. The history guides the clinical evaluation, laboratory testing, and autonomic testing in patients with autonomic neuropathies...

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...

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...

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 discovery of a pathogenic mechanism, which in turn, may lead to therapeutic advancements and improved patient care...