journal
https://read.qxmd.com/read/37591308/an-update-on-becker-muscular-dystrophy
#1
JOURNAL ARTICLE
Volker Straub, Michela Guglieri
PURPOSE OF REVIEW: The purpose of this review is to summarise the recent developments in trial readiness, natural history studies, and interventional clinical trials for Becker muscular dystrophy (BMD). RECENT FINDINGS: As several treatment concepts have claimed to convert patients with Duchenne muscular dystrophy (DMD) into a BMD phenotype, BMD itself has moved into the focus of clinical research. Natural history studies have helped to better characterize patients with BMD and the disease is now a target for interventional trials...
August 22, 2023: Current Opinion in Neurology
https://read.qxmd.com/read/37591303/web-based-cognitive-assessment-in-older-adults-where-do-we-stand
#2
JOURNAL ARTICLE
Sylvie Belleville, Annalise Aleta LaPlume, Rudy Purkart
PURPOSE OF REVIEW: The use of digital tools for remote cognitive measurement of older adults is generating increasing interest due to the numerous advantages offered for accessibility and scalability. However, these tools also pose distinctive challenges, necessitating a thorough analysis of their psychometric properties, feasibility and acceptability. RECENT FINDINGS: In this narrative review, we present the recent literature on the use of web-based cognitive assessment to characterize cognition in older adults and to contribute to the diagnosis of age-related neurodegenerative diseases...
August 15, 2023: Current Opinion in Neurology
https://read.qxmd.com/read/37639488/management-of-neuropsychiatric-symptoms-in-dementia
#3
JOURNAL ARTICLE
D P Devaanand
PURPOSE OF REVIEW: The purpose is to review the results and clinical implications of recent studies of neuropathology in relation to neuropsychiatric symptoms (NPS) in Alzheimer's disease and related dementias, and discuss new therapeutic approaches based on evidence from clinical trials. RECENT FINDINGS: In a large autopsy series from a national consortium, multiple neuropathologies of dementia subtypes were common and increased severity of specific NPS during life was associated with greater severity of neuropathology across diagnoses...
August 8, 2023: Current Opinion in Neurology
https://read.qxmd.com/read/37639461/advanced-brain-imaging-for-the-diagnosis-of-alzheimer-disease
#4
JOURNAL ARTICLE
Yi-Ting Tina Wang, Pedro Rosa-Neto, Serge Gauthier
PURPOSE OF REVIEW: The purpose is to review the latest advances of brain imaging for the diagnosis of Alzheimer disease (AD). RECENT FINDINGS: Brain imaging techniques provide valuable and complementary information to support the diagnosis of Alzheimer disease in clinical and research settings. The recent FDA accelerated approvals of aducanumab, lecanemab and donanemab made amyloid-PET critical in helping determine the optimal window for anti-amyloid therapeutic interventions...
August 4, 2023: Current Opinion in Neurology
https://read.qxmd.com/read/37639435/vitamins-in-neuropathy-pathophysiological-and-therapeutic-roles
#5
JOURNAL ARTICLE
Peng Chen, Xue-Jun Song
PURPOSE OF REVIEW: Vitamin deficiency is a risk factor in the development of peripheral neuropathy, which leads to complex and severe diseases. This review provides an update overview of the literature on the roles of vitamins in peripheral neuropathy, highlighting their pathophysiological and therapeutic roles. RECENT FINDINGS: The importance and clinical manifestations and implications of the vitamins and vitamin deficiencies are further demonstrated in peripheral neuropathy and the associated diseases...
August 1, 2023: Current Opinion in Neurology
https://read.qxmd.com/read/37639464/pan-neurofascin-autoimmune-nodopathy-a-life-threatening-but-reversible-neuropathy
#6
JOURNAL ARTICLE
Luise Appeltshauser, Kathrin Doppler
PURPOSE OF REVIEW: Autoimmune nodopathies are immune-mediated neuropathies associated with antibodies targeting the peripheral node of Ranvier. Recently, antibodies against all neurofascin-isoforms (pan-neurofascin) have been linked to a clinical phenotype distinct from previously described autoimmune nodopathies. Here, we aim at highlighting the molecular background and the red flags for diagnostic assessment and provide treatment and surveillance approaches for this new disease. RECENT FINDINGS: Neurofascin-isoforms are located at different compartments of the node of Ranvier: Neurofascin-186 at the axonal nodal gap, and Neurofascin-155 at the terminal Schwann cell loops at the paranode...
July 31, 2023: Current Opinion in Neurology
https://read.qxmd.com/read/37639489/immune-checkpoint-inhibitors-induced-side-effects-of-the-peripheral-nervous-system
#7
JOURNAL ARTICLE
Thomas Hundsberger, Bettina Schreiner, Patrick Roth
PURPOSE OF REVIEW: This review highlights recent knowledge on the diagnosis and treatment of immune checkpoint inhibitor-induced neurological side effects (irNAE) focussing on the neuromuscular system. RECENT FINDINGS: irNAEs mainly resemble sporadic neuromuscular autoimmune diseases and paraneoplastic neurological syndromes. However, neurological symptoms may be unspecific (muscle weakness, fatigue) in the oncological setting and carry the risk of misdiagnosis and delayed therapeutic intervention...
July 25, 2023: Current Opinion in Neurology
https://read.qxmd.com/read/37501556/old-muscle-new-tricks-a-clinician-perspective-on-sarcopenia-and-where-to-next
#8
JOURNAL ARTICLE
Katie Sch├╝tze, Madeline Schopp, Timothy J Fairchild, Merrilee Needham
PURPOSE OF REVIEW: This review offers a contemporary clinical approach to the recognition, prevention and management of sarcopenia, and discusses recent clinically relevant advances in the aetiopathogenesis of muscle ageing that may lead to future therapeutic targets. RECENT FINDINGS: The key recent directions for sarcopenia are in the diagnosis, understanding molecular mechanisms and management. Regarding the recognition of the condition, it has become increasingly clear that different definitions hamper progress in understanding...
July 25, 2023: Current Opinion in Neurology
https://read.qxmd.com/read/37639402/current-avenues-of-gene-therapy-in-pompe-disease
#9
JOURNAL ARTICLE
Carmen Leon-Astudillo, Prasad D Trivedi, Ramon C Sun, Matthew Gentry, Barry J Byrne, Manuela Corti
PURPOSE OF THE REVIEW: Pompe disease is a rare, inherited, devastating condition that causes progressive weakness, cardiomyopathy and neuromotor disease due to the accumulation of glycogen in striated and smooth muscle, as well as neurons. While enzyme replacement therapy has dramatically changed the outcome of patients with the disease, this strategy has several limitations. Gene therapy in Pompe disease constitutes an attractive approach due to the multisystem aspects of the disease and need to address the central nervous system manifestations...
July 20, 2023: Current Opinion in Neurology
https://read.qxmd.com/read/37639480/the-current-clinical-perception-of-myotonic-dystrophy-type-2
#10
JOURNAL ARTICLE
Felix Kleefeld, Benedikt Schoser
PURPOSE OF REVIEW: Myotonic dystrophy type 2 (DM2) is a genetic disorder belonging to the spectrum of myotonic dystrophies. DM2 is characterized by progressive muscle weakness, wasting and muscle pain (myalgia), but can also affect many other organ systems. In this review, we provide an updated overview on the research literature on DM2 with a focus on the management of multisystemic involvement and atypical clinical phenotypes. RECENT FINDINGS: Recent studies have focused on different aspects of multisystemic involvement...
July 19, 2023: Current Opinion in Neurology
https://read.qxmd.com/read/37382111/nerve-ultrasound-for-the-diagnosis-and-follow-up-of-peripheral-neuropathies
#11
JOURNAL ARTICLE
Kalliopi Pitarokoili, Ralf Gold, Anna Lena Fisse
PURPOSE OF REVIEW: The purpose if this review is to provide an overview of the available data on the use of nerve ultrasound for the diagnosis and follow-up of peripheral neuropathies. RECENT FINDINGS: During the last decade, nerve ultrasound has been established as a complementary tool for the evaluation of morphological changes mostly for immune-mediated polyneuropathies. Through the development of ultrasound protocols for evaluation of disease-specific sites, nerve ultrasound has proven to be a practical, widely available, reproducible diagnostic tool with no relevant contraindications...
June 26, 2023: Current Opinion in Neurology
https://read.qxmd.com/read/37678340/degenerative-and-cognitive-diseases
#12
JOURNAL ARTICLE
Rosie E Curiel Cid
No abstract text is available yet for this article.
October 1, 2023: Current Opinion in Neurology
https://read.qxmd.com/read/37678339/therapeutic-developments-for-valosin-containing-protein-mediated-multisystem-proteinopathy
#13
REVIEW
Victoria Boock, Bhaskar Roy, Gerald Pfeffer, Virginia Kimonis
PURPOSE OF REVIEW: Missense mutations in valosin-containing protein (VCP) can lead to a multisystem proteinopathy 1 (MSP1) with any combination of limb-girdle distribution inclusion body myopathy (IBM) (present in about 90% of cases), Paget's disease of bone, and frontotemporal dementia (IBMPFD). VCP mutations lead to gain of function activity with widespread disarray in cellular function, with enhanced ATPase activity, increased binding with its cofactors, and reduced mitofusin levels...
October 1, 2023: Current Opinion in Neurology
https://read.qxmd.com/read/37678338/editorial-framing-artificial-intelligence-to-neuromuscular-disorders
#14
JOURNAL ARTICLE
Benedikt Schoser
No abstract text is available yet for this article.
October 1, 2023: Current Opinion in Neurology
https://read.qxmd.com/read/37678337/current-drug-treatment-of-myasthenia-gravis
#15
REVIEW
Fiammetta Vanoli, Renato Mantegazza
PURPOSE OF REVIEW: Myasthenia Gravis (MG) is a rare neurological disorder affecting the neuromuscular junction. Clinical hallmarks are fatigability and weakness affecting the extraocular, axial, limb and/or respiratory muscles. Despite immunosuppressive treatment, mainly based on corticosteroids and nonsteroidal immunosuppressants, the burden of MG is still significant, both in terms of inadequate disease control and burdensome side effects. Driven by such limits, the past years have been characterized by an escalation of MG drug development, with novel molecules which now focuses on having a more targeted effect, with a higher safety and efficacy profile...
October 1, 2023: Current Opinion in Neurology
https://read.qxmd.com/read/37678336/editorial-neuromuscular-diseases-differential-diagnosis-and-targeted-treatment
#16
EDITORIAL
Claudia Sommer
No abstract text is available yet for this article.
October 1, 2023: Current Opinion in Neurology
https://read.qxmd.com/read/37678335/editorial-introductions
#17
JOURNAL ARTICLE
(no author information available yet)
No abstract text is available yet for this article.
October 1, 2023: Current Opinion in Neurology
https://read.qxmd.com/read/37639472/toxic-neuropathies
#18
JOURNAL ARTICLE
Alexander M Rossor, Hadi Manji
PURPOSE OF REVIEW: Immunotherapy has had a significant impact on the treatment of an increasing number of cancers as well as in inflammatory, rheumatological and gastroenterological conditions.Recreational nitrous oxide use is now a global epidemic. Linezolid is now recommended for the treatment of drug-resistant tuberculosis (TB); neuropathy is a significant cause of morbidity.Global warming will result in increasing toxin exposure, such as ciguatera, in previously unaffected areas. RECENT FINDINGS: With increasing experience, the pathophysiology underlying the neuropathic complications of these drugs has become clear with guidelines now available, for the complications of immune check-point inhibitors and nitrous oxide toxicity...
October 1, 2023: Current Opinion in Neurology
https://read.qxmd.com/read/37639450/thymectomy-in-myasthenia-gravis
#19
REVIEW
Jakob Rath, Bernhard Moser, Fritz Zimprich
PURPOSE OF REVIEW: Thymectomy has long been used in the treatment of patients with myasthenia gravis and antibodies against the acetylcholine receptor. However, its effectiveness has only been proven a few years ago in a randomized controlled trial in patients under the age of 65. Here, we review the current literature focusing on patient subgroups, potential biomarkers for outcome prediction and the choice of surgical approach. RECENT FINDINGS: Long-term follow-up studies after thymectomy confirmed that the benefits regarding clinical outcome parameters and a reduced need for immunosuppressive treatment persist...
October 1, 2023: Current Opinion in Neurology
https://read.qxmd.com/read/37639448/a-patient-with-neuropathy-and-ataxia-what-do-i-have-to-consider
#20
REVIEW
Leslie J Roberts, David J Szmulewicz
PURPOSE OF REVIEW: An increasing number of peripheral neuro(no)pathies are identified as involving other components of the neurological system, particularly those that further impair balance. Here we aim to outline an evidence-based approach to the diagnosis of patients who present with a somatosensory disorder which also involves at least one other area of neurological impairment such as the vestibular, auditory, or cerebellar systems. RECENT FINDINGS: Detailed objective investigation of patients who present with sensory impairment, particularly where the degree of imbalance is greater than would be expected, aids the accurate diagnosis of genetic, autoimmune, metabolic, and toxic neurological disease...
October 1, 2023: Current Opinion in Neurology
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