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Current Opinion in Neurology

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https://read.qxmd.com/read/31425176/therapeutic-advances-in-sma
#1
Albert C Ludolph, Claudia D Wurster
PURPOSE OF REVIEW: To review the advent of novel therapies and their impact on the field of chromosome 5q-associated spinal muscular atrophy (SMA). RECENT FINDINGS: Antisense oligonucleotides (ASOs) enhancing SMN2 function are delivered intrathecally and small molecules will also be available soon delivered by the oral route; alternatively, systemic injection of viral vectors in order to replace the SMN gene are likely to be available in the future. In summer 2019, it remains the core finding that intrathecally delivered ASOs convincingly change the natural history of the disease in children and that the treatment effect is the better, the earlier ASO treatment is started...
August 16, 2019: Current Opinion in Neurology
https://read.qxmd.com/read/31408013/advances-in-primary-mitochondrial-myopathies
#2
Isabella Peixoto de Barcelos, Valentina Emmanuele, Michio Hirano
PURPOSE OF REVIEW: Although mitochondrial diseases impose a significant functional limitation in the lives of patients, treatment of these conditions has been limited to dietary supplements, exercise, and physical therapy. In the past few years, however, translational medicine has identified potential therapies for these patients. RECENT FINDINGS: For patients with primary mitochondrial myopathies, preliminary phase I and II multicenter clinical trials of elamipretide indicate safety and suggest improvement in 6-min walk test (6MWT) performance and fatigue scales...
August 12, 2019: Current Opinion in Neurology
https://read.qxmd.com/read/31403480/neurochemical-biomarkers-in-amyotrophic-lateral-sclerosis
#3
Federico Verde, Vincenzo Silani, Markus Otto
PURPOSE OF REVIEW: The diagnosis of amyotrophic lateral sclerosis (ALS) still relies mainly on clinical criteria. In present review we will provide an overview of neurochemical ALS biomarkers, which are in the most advanced position on the way towards inclusion into the clinical work-up. RECENT FINDINGS: The field of ALS neurology still lacks a neurochemical marker for routine clinical use. However, this is urgently needed, because it would help in diagnosis, prognostic stratification, and monitoring of drug response...
August 8, 2019: Current Opinion in Neurology
https://read.qxmd.com/read/31369423/classification-of-idiopathic-inflammatory-myopathies-pathology-perspectives
#4
Jantima Tanboon, Ichizo Nishino
PURPOSE OF REVIEW: Idiopathic inflammatory myopathies (IIMs) are rare diseases with heterogenous clinicopathological features. In recent years, new classification systems considering various combinations of clinical, serological, and pathological information have been proposed. This review summarizes recent clinicoseropathological development in major subgroups of IIM. RECENT FINDINGS: Considering clinicoseropathological features, IIM are suggestively classified into four major subgroups: dermatomyositis, immune-mediated necrotizing myopathy (IMNM), antisynthetase syndrome (ASS), and inclusion body myositis (IBM)...
July 31, 2019: Current Opinion in Neurology
https://read.qxmd.com/read/31361628/the-congenital-myasthenic-syndromes-expanding-genetic-and-phenotypic-spectrums-and-refining-treatment-strategies
#5
An E Vanhaesebrouck, David Beeson
PURPOSE OF REVIEW: Congenital myasthenic syndromes (CMS) are a group of heterogeneous inherited disorders caused by mutations in genes encoding proteins whose function is essential for the integrity of neuromuscular transmission. This review updates the reader on the expanding phenotypic spectrum and suggested improved treatment strategies. RECENT FINDINGS: As next-generation sequencing is taken into the clinic, its use is both continuing to unearth new causative genes in which mutations underlie CMS and also broadening the phenotypic spectrum for known CMS genes...
July 29, 2019: Current Opinion in Neurology
https://read.qxmd.com/read/31361627/epidemiology-of-amyotrophic-lateral-sclerosis-an-update-of-recent-literature
#6
Elisa Longinetti, Fang Fang
PURPOSE OF REVIEW: The cause of amyotrophic lateral sclerosis (ALS) remains unknown for most of the patients with the disease. Epidemiologic studies can help describe disease burden and examine its potential risk factors, providing thereby evidence base for future mechanistic studies. With this review, we aimed to provide a summary of epidemiologic studies published during the past 18 months, which studied the incidence and risk factors for ALS. RECENT FINDINGS: An increasing incidence and prevalence of ALS continue to be reported from different parts of the world...
July 29, 2019: Current Opinion in Neurology
https://read.qxmd.com/read/31343429/update-in-duchenne-and-becker-muscular-dystrophy
#7
Megan A Waldrop, Kevin M Flanigan
PURPOSE OF REVIEW: The purpose of this review is to highlight updates in the standard of care recommendations for DMD, and to describe approaches to and recent advances in genetic therapies for DMD. RECENT FINDINGS: Treatment of DMD patients with the corticosteroids prednisone or deflazacort remains the standard of care, and recent data shows that early treatment (as young as 5 months) with a weekend dosing regimen results in measurable improvement in motor outcomes...
July 24, 2019: Current Opinion in Neurology
https://read.qxmd.com/read/31343428/charcot-marie-tooth-disease-and-related-disorders-an-evolving-landscape
#8
Matilde Laurá, Menelaos Pipis, Alexander M Rossor, Mary M Reilly
PURPOSE OF REVIEW: Charcot-Marie-Tooth (CMT) disease and related disorders are the commonest group of inherited neuromuscular diseases and represent a heterogeneous group of disorders. This review will cover recent advances in genetic diagnosis and the evolving genetic and phenotype landscape of this disease group. We will review recent evidence of the increasingly recognized phenotypic overlap with other neurodegenerative conditions including hereditary spastic paraplegia, hereditary ataxias and mitochondrial diseases and highlight the importance of deep phenotyping to inform genetic diagnosis and prognosis...
July 24, 2019: Current Opinion in Neurology
https://read.qxmd.com/read/31335339/update-on-amyotrophic-lateral-sclerosis-genetics
#9
David Brenner, Jochen H Weishaupt
PURPOSE OF REVIEW: The fatal motoneuron disease amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder with a high contribution of genetic factors to pathogenesis, in probably both familial and sporadic ALS cases. State-of-the art sequencing techniques continue to reveal novel monogenic causes for ALS, risk factors and modifiers. This leads to an improved genotype/phenotype correlation and is becoming increasingly relevant for genetic diagnosis, counseling and therapy. The first gene-specific therapies are being tested in ongoing clinical trials...
July 22, 2019: Current Opinion in Neurology
https://read.qxmd.com/read/31335338/clinical-trials-in-amyotrophic-lateral-sclerosis
#10
Christopher J McDermott
PURPOSE OF REVIEW: To review new developments in the field of amyotrophic lateral sclerosis (ALS) clinical trial design and to review the implications of the latest ALS clinical trials. RECENT FINDINGS: There has been substantial reflection on how clinical trials in ALS are best conducted. The revised Airlie House recommendations are an important milestone and should guide trial design. In addition, innovations using individualized risk-based eligibility criteria, adaptive designs, joint modelling, patient-centred approaches, and remote collection of data show real promise...
July 22, 2019: Current Opinion in Neurology
https://read.qxmd.com/read/31335337/imaging-in-amyotrophic-lateral-sclerosis-mri-and-pet
#11
Jan Kassubek, Marco Pagani
PURPOSE OF REVIEW: Neuroimaging with MRI and PET has become a well-established technical tool for amyotrophic lateral sclerosis (ALS). This review summarizes current developments in the advanced neuroimaging assessment of ALS and explores their potential in a clinical and neuroscientific setting. RECENT FINDINGS: With a focus on diffusion-weighted imaging, MRI-based neuroimaging has shown to provide reliable measures for monitoring disease progression and should be included in the clinical workup of ALS...
July 22, 2019: Current Opinion in Neurology
https://read.qxmd.com/read/31313705/neuropathies-and-paraproteins
#12
Michael P Lunn
PURPOSE OF REVIEW: There is an increasingly recognized association between haematological and neurological disease. This is especially true in the peripheral nervous system in which, to an extent, proof of a link is easier to achieve. The most sensitive low level paraprotein detection methods should always be employed in which a paraprotein is suspected. Peripheral nerves can be damaged not only by the immunological targeting of the myelin by the paraprotein, but by deposition (light chain amyloid and cryoglobulins) or direct infiltration (neurolymphomatosis)...
July 15, 2019: Current Opinion in Neurology
https://read.qxmd.com/read/31313704/update-on-classification-epidemiology-clinical-phenotype-and-imaging-of-the-nonsystemic-vasculitic-neuropathies
#13
Michael P Collins, P James B Dyck, Robert D M Hadden
PURPOSE OF REVIEW: Single-organ vasculitis of the peripheral nervous system (PNS) is often designated nonsystemic vasculitic neuropathy (NSVN). Several variants or subtypes have been distinguished, including migratory sensory neuropathy, postsurgical inflammatory neuropathy, diabetic radiculoplexus neuropathies, skin-nerve vasculitides, and, arguably, neuralgic amyotrophy. NSVN often presents as nondiabetic lumbosacral radiculoplexus neuropathy (LRPN). This review updates classification, clinical features, epidemiology, and imaging of these disorders...
July 15, 2019: Current Opinion in Neurology
https://read.qxmd.com/read/31306212/the-challenges-of-diabetic-polyneuropathy-a-brief-update
#14
Douglas W Zochodne
PURPOSE OF REVIEW: The current review addresses one of the most common neurological disorders, diabetic polyneuropathy (DPN). DPN is debilitating, irreversible and dwarfs the prevalence of most other chronic disorders of the nervous system. Its complications include foot ulceration, amputation, falling and intractable neuropathic pain. Moreover, tight control of hyperglycemia reduces the incidence of DPN in type 1 diabetes mellitus but its role in type 2 diabetes mellitus is less clear...
July 11, 2019: Current Opinion in Neurology
https://read.qxmd.com/read/31306211/new-insights-on-the-disease-contribution-of-neuroinflammation-in-amyotrophic-lateral-sclerosis
#15
Aude Chiot, Christian S Lobsiger, Séverine Boillée
PURPOSE OF REVIEW: Amyotrophic lateral sclerosis (ALS) is a degenerative motor neuron disease with a strong neuroinflammatory component. This review summarizes how the connection between neurodegeneration and the immune system is strengthened by new discoveries from ALS genetics and the analysis of subpopulations of immune cells in ALS. RECENT FINDINGS: Recent genes identified in ALS encode for proteins with direct immune roles, which when mutated lead to deregulation of immune functions, potentially influencing the disease...
July 11, 2019: Current Opinion in Neurology
https://read.qxmd.com/read/31306214/toxic-neuropathies-chemotherapy-induced-peripheral-neurotoxicity
#16
Paola Alberti, Guido Cavaletti, David R Cornblath
PURPOSE OF REVIEW: Chemotherapy-induced peripheral neuropathy (CIPN) is a common and distressing side-effect of many chemotherapy regimens. Currently, aside from symptomatic treatments for neuropathic pain, there are no treatments to prevent CIPN or treat established CIPN. We discuss recent articles addressing clinimetric issues and treatment of CIPN. RECENT FINDINGS: There are important clinimetric issues that need to be addressed so that robust clinical trials in CIPN can be performed...
July 9, 2019: Current Opinion in Neurology
https://read.qxmd.com/read/31306213/autoantibodies-in-chronic-inflammatory-demyelinating-polyradiculoneuropathy
#17
Elba Pascual-Goñi, Lorena Martín-Aguilar, Luis Querol
PURPOSE OF REVIEW: Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a heterogeneous disorder that includes diverse clinical presentations and immunopathological mechanisms. Antibodies targeting proteins of the node of Ranvier are present in a subset of CIDP patients. These autoantibodies are pathogenic and associate with specific clinical phenotypes and therapeutic peculiarities. This review summarizes the novel insights that the discovery of novel autoantibodies has brought to the understanding of CIDP...
July 9, 2019: Current Opinion in Neurology
https://read.qxmd.com/read/31232715/neurodevelopmental-disabilities
#18
Doris A Trauner
No abstract text is available yet for this article.
June 20, 2019: Current Opinion in Neurology
https://read.qxmd.com/read/31232714/gene-targeting-approaches-for-movement-disorders-recent-advances
#19
Michael G Kaplitt
PURPOSE OF REVIEW: To summarize the current state of art of gene therapy for Parkinson's disease. RECENT FINDINGS: Introduction of the gene for glutamic acid decarboxylase (GAD) into the subthalamic nucleus was successful in a randomized, double-blind clinical trial and recent data from PET imaging identified novel brain networks underlying both sham surgery and therapeutic responses in treated participants. Two other approaches use viral vectors to increase dopamine transmission in the striatum...
June 20, 2019: Current Opinion in Neurology
https://read.qxmd.com/read/31460961/current-therapeutic-landscape-in-multiple-sclerosis-an-evolving-treatment-paradigm-erratum
#20
(no author information available yet)
No abstract text is available yet for this article.
October 2019: Current Opinion in Neurology
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