Current Opinion in Neurology最新文献_第4页

Congenital myasthenic syndromes: increasingly complex. 先天性肌无力综合征：日益复杂。

IF 4.1 2区医学

Current Opinion in Neurology Pub Date : 2024-10-01 Epub Date: 2024-07-25 DOI: 10.1097/WCO.0000000000001300

Sithara Ramdas, David Beeson, Yin Yao Dong

{"title":"Congenital myasthenic syndromes: increasingly complex.","authors":"Sithara Ramdas, David Beeson, Yin Yao Dong","doi":"10.1097/WCO.0000000000001300","DOIUrl":"10.1097/WCO.0000000000001300","url":null,"abstract":"Purpose of review: Congenital myasthenia syndromes (CMS) are treatable, inherited disorders affecting neuromuscular transmission. We highlight that the involvement of an increasing number of proteins is making the understanding of the disease mechanisms and potential treatments progressively more complex.Recent findings: Although early studies identified mutations of proteins directly involved in synaptic transmission at the neuromuscular junction, recently, next-generation sequencing has facilitated the identification of many novel mutations in genes that encode proteins that have a far wider expression profile, some even ubiquitously expressed, but whose defective function leads to impaired neuromuscular transmission. Unsurprisingly, mutations in these genes often causes a wider phenotypic disease spectrum where defective neuromuscular transmission forms only one component. This has implications for the management of CMS patients.Summary: Given the widening nonneuromuscular junction phenotypes in the newly identified forms of CMS, new therapies need to include disease-modifying approaches that address not only neuromuscular weakness but also the multisystem involvement. Whilst the current treatments for CMS are highly effective for many subtypes there remains, in a proportion of CMS patients, an unmet need for more efficacious therapies.","PeriodicalId":11059,"journal":{"name":"Current Opinion in Neurology","volume":" ","pages":"493-501"},"PeriodicalIF":4.1,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11377046/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141757702","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Muscle ultrasound in myopathies. 肌病中的肌肉超声。

IF 4.1 2区医学

Current Opinion in Neurology Pub Date : 2024-10-01 Epub Date: 2024-07-25 DOI: 10.1097/WCO.0000000000001306

Alex Vicino, Dimitra Veltsista, Nens van Alfen

{"title":"Muscle ultrasound in myopathies.","authors":"Alex Vicino, Dimitra Veltsista, Nens van Alfen","doi":"10.1097/WCO.0000000000001306","DOIUrl":"10.1097/WCO.0000000000001306","url":null,"abstract":"Purpose of review: This review highlights recent developments in the field of muscle ultrasound (MUS) for the diagnosis and follow up of muscle disorders.Recent findings: The diagnostic screening capacity of quantitative grayscale analysis is still sufficient to assess children suspected of a neuromuscular disorder. A combination of visual and quantitative assessment is advised for optimal interpretation. MUS was more sensitive but less specific than MRI for detecting pathology in limb girdle dystrophies and inflammatory myopathies. New techniques such as shearwave elastography and artificial intelligence algorithms for automated image segmentation show promise but need further development for use in everyday practice.Muscle ultrasound has high correlations with clinical measures of function in skeletal and respiratory muscles and the orofacial region, in most of the myopathies and dystrophies studied. Over time, imaging changes precede changes in clinical status, making them attractive for biomarker use in trials. In Duchenne muscular dystrophy MUS was also responsive to the effects of steroid treatment.Summary: Muscle ultrasound is a sensitive technique to diagnose and follow up of skeletal, facial and respiratory muscles in neuromuscular disorders. Its role is both complementary to and partially overlapping with that of MRI.","PeriodicalId":11059,"journal":{"name":"Current Opinion in Neurology","volume":" ","pages":"549-557"},"PeriodicalIF":4.1,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11377056/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141757704","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Emerging concepts and therapies for amyotrophic lateral sclerosis. 肌萎缩性脊髓侧索硬化症的新概念和疗法。

IF 4.1 2区医学

Current Opinion in Neurology Pub Date : 2024-10-01 Epub Date: 2024-09-05 DOI: 10.1097/WCO.0000000000001308

Matthew C Kiernan, Ryuji Kaji

引用次数: 0

Late-onset myopathies. 迟发性肌病

IF 4.1 2区医学

Current Opinion in Neurology Pub Date : 2024-10-01 Epub Date: 2024-07-16 DOI: 10.1097/WCO.0000000000001298

Emmanuelle Salort-Campana, Shahram Attarian

{"title":"Late-onset myopathies.","authors":"Emmanuelle Salort-Campana, Shahram Attarian","doi":"10.1097/WCO.0000000000001298","DOIUrl":"10.1097/WCO.0000000000001298","url":null,"abstract":"Purpose of review: Late-onset myopathies are defined as muscle diseases that begin after the age of 50 years. Some myopathies present classically in the elderly, whereas others may have a variable age of onset, including late-onset presentation. The purpose of this review is to summarize and comment on the most recent evidence regarding the main diagnosis of late-onset myopathies focusing on genetic causes.Recent findings: Although late-onset myopathies (LOM) are expected to be predominantly acquired myopathies, some common genetic myopathies, such as facioscapulohumeral muscular dystrophy (FSHD), can present late in life, usually with an atypical presentation. In addition, metabolic myopathies, which are classically early-onset diseases, are also diagnoses to be considered, particularly as they may be treatable. Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) has recently been identified as a cause of subacute LOM with a dramatic response to riboflavin supplementation.Summary: Inclusion body myositis is the most frequent of all LOM. Myotonic dystrophy type 2, FSHD and oculopharyngeal muscular dystrophy are the most frequent causes of genetic LOM. We summarize the major differential diagnoses and the clinical features on clinical examination that are suggestive of a genetic diagnosis to provide a diagnostic approach.","PeriodicalId":11059,"journal":{"name":"Current Opinion in Neurology","volume":" ","pages":"523-535"},"PeriodicalIF":4.1,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141626269","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Update on RYR1-related myopathies. RYR1相关肌病的最新进展。

IF 4.1 2区医学

Current Opinion in Neurology Pub Date : 2024-10-01 Epub Date: 2024-07-12 DOI: 10.1097/WCO.0000000000001296

Masashi Ogasawara, Ichizo Nishino

{"title":"Update on RYR1-related myopathies.","authors":"Masashi Ogasawara, Ichizo Nishino","doi":"10.1097/WCO.0000000000001296","DOIUrl":"10.1097/WCO.0000000000001296","url":null,"abstract":"Purpose of review: RYR1-related myopathy (RYR1-RM) is a group of myopathies caused by mutations in the RYR1 gene, which encodes the ryanodine receptor 1 (RYR1). This review discusses recent advances in the clinical features, pathology, pathogenesis, and therapeutics of RYR1-RM.Recent findings: Although treatments such as salbutamol, pyridostigmine, and N-acetylcysteine have been explored as potential therapies for RYR1-RM, none have been conclusively proven to be effective. However, recent clinical trials of Rycal ARM210 in patients with RYR1-RM have shown promising results, including reduced fatigue and improved proximal muscle strength.Recent advances in three-dimensional structural analysis of RYR1 channels, facilitated by cryo-electron microscopy (cryo-EM), have elucidated the distinct molecular mechanisms underlying RYR1 functionality. Additionally, high-throughput screening methods, including FRET-based and endoplasmic reticulum Ca 2+ -based assays, have been successful in identifying potential candidates for the treatment of RYR1-RM.Summary: Recent advances in clinical and pathological understanding have provided new insights into RYR1-RM. Novel pathomechanisms elucidated by cryo-EM and rapid screening methods have led to the identification of several promising drug candidates. We are hopeful about the potential of Rycal, other new drugs, and gene therapy, offering a promising outlook for the future.","PeriodicalId":11059,"journal":{"name":"Current Opinion in Neurology","volume":" ","pages":"504-508"},"PeriodicalIF":4.1,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141589896","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Ultra-high dose methylcobalamin and other emerging therapies for amyotrophic lateral sclerosis. 超高剂量甲基钴胺素和其他治疗肌萎缩性脊髓侧索硬化症的新兴疗法。

IF 4.1 2区医学

Current Opinion in Neurology Pub Date : 2024-10-01 Epub Date: 2024-07-31 DOI: 10.1097/WCO.0000000000001311

Ryuji Kaji, Yuishin Izumi, Ryosuke Oki

{"title":"Ultra-high dose methylcobalamin and other emerging therapies for amyotrophic lateral sclerosis.","authors":"Ryuji Kaji, Yuishin Izumi, Ryosuke Oki","doi":"10.1097/WCO.0000000000001311","DOIUrl":"10.1097/WCO.0000000000001311","url":null,"abstract":"Purpose of review: Recent development in understanding the pathophysiology of amyotrophic lateral sclerosis (ALS) has led to increasing number of promising test drugs in the pipeline along with the existing ones. We will review these agents focusing on ultra-high dose methylcobalamin, which is pending approval in Japan. Clinical trial design best suited for ALS will also be discussed.Recent findings: The most recent phase 3 trial (JETALS) of ultra-high dose methylcobalamin demonstrated significant slowing of ALSFRSR changes (0.5/month), with marked reduction of serum homocysteine levels in the initial double-blind period. The post hoc analysis of the previous phase 2/3 study (E761 trial; Eisai) showed that it prolonged survival of ALS patients, if started within 1 year of onset, but the previous studies suggested its efficacy even in later stages, depending upon the rate of progression. Phase 3 trial of AMX0035 or Relyvrio on the other hand showed negative results despite the promising phase 2 data. The latter did not adjust the disease progression rate before entry.Summary: Ultra-high dose methylcobalamin is not a vitamin supplement but a novel disease-modifying therapy for ALS, and it emphasizes homocysteine as a key factor in the disease process. Clinical trial design must include entering patients early and with similar rates of progression using pretrial observation periods for meaningful results, since ALS is a chronologically heterogenous condition with similar phenotypes.","PeriodicalId":11059,"journal":{"name":"Current Opinion in Neurology","volume":" ","pages":"593-602"},"PeriodicalIF":4.1,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141855054","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Diagnostic criteria for amyotrophic lateral sclerosis. 肌萎缩性脊髓侧索硬化症的诊断标准。

IF 4.1 2区医学

Current Opinion in Neurology Pub Date : 2024-10-01 Epub Date: 2024-07-22 DOI: 10.1097/WCO.0000000000001302

Hannah C Timmins, Alexandra E Thompson, Matthew C Kiernan

{"title":"Diagnostic criteria for amyotrophic lateral sclerosis.","authors":"Hannah C Timmins, Alexandra E Thompson, Matthew C Kiernan","doi":"10.1097/WCO.0000000000001302","DOIUrl":"10.1097/WCO.0000000000001302","url":null,"abstract":"Purpose of review: The present review will discuss the evolution of diagnostic criteria for amyotrophic lateral sclerosis (ALS) and biomarker considerations.Recent findings: To address the limitations of existing ALS diagnostic criteria, a consortium of key stakeholders developed the Gold Coast consensus criteria (GCC). The GCC has similar or greater sensitivity compared with the revised El Escorial (rEEC) and Awaji criteria (AC), particularly for atypical phenotypes, maintained across disease duration, severity, and site of onset. In addition to improving diagnostic sensitivity, using the GCC in clinical trials may promote an increased enrolment of up to 50% of ALS patients who do not currently meet the full diagnostic eligibility requirements of the rEEC. Future inclusion of genetic biomarkers may mitigate some limitations of the GCC, to further improve diagnostic utility. In advance of such a process, validation of these biomarkers will be required before inclusion as additional criteria.Summary: The GCC are simpler to use than previous consensus criteria, with demonstrated greater sensitivity and, enabling an earlier and more definitive ALS diagnosis, thereby facilitating wider enrolment into clinical trials. Broader implementation of the GCC in clinical trial settings is currently underway, globally.","PeriodicalId":11059,"journal":{"name":"Current Opinion in Neurology","volume":" ","pages":"570-576"},"PeriodicalIF":4.1,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141733661","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Ways to think about vasculitic neuropathy. 思考血管性神经病的方法。

IF 4.1 2区医学

Current Opinion in Neurology Pub Date : 2024-10-01 Epub Date: 2024-07-24 DOI: 10.1097/WCO.0000000000001301

Mahima Kapoor, Stephen W Reddel

{"title":"Ways to think about vasculitic neuropathy.","authors":"Mahima Kapoor, Stephen W Reddel","doi":"10.1097/WCO.0000000000001301","DOIUrl":"10.1097/WCO.0000000000001301","url":null,"abstract":"Purpose of review: Vasculitis as a pathomechanism for neuropathy can be isolated to the peripheral nervous system, a part of a systemic autoimmune condition or a component of another syndrome. This review aims to discuss the broad range of diagnoses in which vasculitic neuropathy can be encountered, highlight the progress in imaging techniques in identifying vasculitis, and the new drugs developed for other autoimmune diseases that may be applied to neurological conditions.Recent findings: Advances in imaging modalities, ultrasound, MRI and FDG-PET scanning for neuromuscular applications has redefined many aspects of vasculitic neuropathies. The benefit of dividing vasculitides by vessel size is becoming less absolute as diagnostic approaches advance. MRI and FDG-PET are widely used in diagnosis, defining extent of involvement of disease and monitoring. In neuralgic amyotrophy, the identification of hourglass-like constrictions on imaging has changed the treatment paradigm to include surgical interventions. These diagnostic approaches are supported by new immunomodulating and immunosuppression techniques.Summary: Vasculitic neuropathies are a broad group of conditions with a range of causes and associations. Increased use of imaging techniques impacts our traditional definitions and classifications. The growth in treatment options for other autoimmune conditions are likely to infiltrate the neurological landscape.","PeriodicalId":11059,"journal":{"name":"Current Opinion in Neurology","volume":" ","pages":"478-486"},"PeriodicalIF":4.1,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141751332","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Leprous neuropathy. 鳞状神经病

IF 4.1 2区医学

Current Opinion in Neurology Pub Date : 2024-10-01 Epub Date: 2024-07-25 DOI: 10.1097/WCO.0000000000001304

Wilson Marques

引用次数: 0

New targets in spontaneous intracerebral hemorrhage. 自发性脑内出血的新目标。

IF 4.1 2区医学

Current Opinion in Neurology Pub Date : 2024-09-26 DOI: 10.1097/WCO.0000000000001325

Pu-Tien Chiang, Li-Kai Tsai, Hsin-Hsi Tsai

{"title":"New targets in spontaneous intracerebral hemorrhage.","authors":"Pu-Tien Chiang, Li-Kai Tsai, Hsin-Hsi Tsai","doi":"10.1097/WCO.0000000000001325","DOIUrl":"https://doi.org/10.1097/WCO.0000000000001325","url":null,"abstract":"Purpose of review: Intracerebral hemorrhage (ICH) is a devastating stroke with limited medical treatments; thus, timely exploration of emerging therapeutic targets is essential. This review focuses on the latest strategies to mitigate secondary brain injury post-ICH other than targeting surgery or hemostasis, addressing a significant gap in clinical practice and highlighting potential improvements in patient outcomes.Recent findings: Promising therapeutic targets to reduce secondary brain injury following ICH have recently been identified, including attenuation of iron toxicity and inhibition of ferroptosis, enhancement of endogenous resorption of hematoma, and modulation of perihematomal inflammatory responses and edema. Additionally, novel insights suggest the lymphatic system of the brain may potentially play a role in hematoma clearance and edema management. Various experimental and early-phase clinical trials have demonstrated these approaches may potentially offer clinical benefits, though most research remains in the preliminary stages.Summary: Continued research is essential to identify multifaceted treatment strategies for ICH. Clinical translation of these emerging targets could significantly enhance the efficacy of therapeutic interventions and potentially reduce secondary brain damage and improve neurological recovery. Future efforts should focus on large-scale clinical trials to validate these approaches, to pave the way for more effective treatment protocols for spontaneous ICH.","PeriodicalId":11059,"journal":{"name":"Current Opinion in Neurology","volume":" ","pages":""},"PeriodicalIF":4.1,"publicationDate":"2024-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142343356","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0