Current Opinion in Neurology最新文献_第5页

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

Updates for newly diagnosed and recurrent glioblastoma: a review of recent clinical trials. 新诊断和复发胶质母细胞瘤的最新治疗方法：近期临床试验综述。

IF 4.8 2区医学

Current Opinion in Neurology Pub Date : 2024-09-13 DOI: 10.1097/wco.0000000000001320

Corinna M Fukushima,John de Groot

{"title":"Updates for newly diagnosed and recurrent glioblastoma: a review of recent clinical trials.","authors":"Corinna M Fukushima,John de Groot","doi":"10.1097/wco.0000000000001320","DOIUrl":"https://doi.org/10.1097/wco.0000000000001320","url":null,"abstract":"PURPOSE OF REVIEWGlioblastoma (GBM) is the most common and devastating primary malignant brain tumor. We summarize recent advances in radiotherapy, immunotherapy, and targeted therapy approaches for the treatment of newly diagnosed and recurrent glioblastoma. We also introduce ongoing clinical trials.RECENT FINDINGSRecent clinical trials have explored multiple novel strategies to treat GBM including the use of oncoviruses, chimeric antigen receptor (CAR) T cell therapy, vaccines, radiotherapy, and novel drug delivery techniques to improves drug penetrance across the blood brain barrier. Approaches to improve drug delivery to brain tumors have the potential to expand treatment options of existing therapies that otherwise have poor brain tumor penetrance. Immunotherapy has been of keen interest in both newly diagnosed and recurrent glioblastoma. Vaccines SurVaxM and DCVax-L have shown initial promise in phase II and III trials, respectively. CAR T cell therapy trials are in their early phases but hold promise in both newly diagnosed and recurrent glioblastoma.SUMMARYAlthough progress to improve outcomes for GBM patients has been modest, multiple novel strategies utilizing combination therapies, focused ultrasound to improve drug delivery, and novel immunotherapies are underway.","PeriodicalId":11059,"journal":{"name":"Current Opinion in Neurology","volume":"50 1","pages":""},"PeriodicalIF":4.8,"publicationDate":"2024-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142216534","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

Advances in the treatment of IDH-mutant gliomas. 治疗 IDH 突变胶质瘤的进展。

IF 4.8 2区医学

Current Opinion in Neurology Pub Date : 2024-09-12 DOI: 10.1097/wco.0000000000001316

Chooyoung Baek,Alice Laurenge,Mehdi Touat

引用次数: 0

Perception and control of a virtual body in immersive virtual reality for rehabilitation. 在用于康复的沉浸式虚拟现实中感知和控制虚拟人体。

IF 4.8 2区医学

Current Opinion in Neurology Pub Date : 2024-09-10 DOI: 10.1097/wco.0000000000001321

Tony Donegan,Maria V Sanchez-Vives

{"title":"Perception and control of a virtual body in immersive virtual reality for rehabilitation.","authors":"Tony Donegan,Maria V Sanchez-Vives","doi":"10.1097/wco.0000000000001321","DOIUrl":"https://doi.org/10.1097/wco.0000000000001321","url":null,"abstract":"PURPOSE OF REVIEWThis review explores recent advances in using immersive virtual reality to improve bodily perception and motor control in rehabilitation across musculoskeletal and neurological conditions, examining how virtual reality's unique capabilities can address the challenges of traditional approaches. The potential in this area of the emerging metaverse and the integration of artificial intelligence in virtual reality are discussed.RECENT FINDINGSIn musculoskeletal rehabilitation, virtual reality shows promise in enhancing motivation, adherence, improving range of motion, and reducing kinesiophobia, particularly postsurgery. For neurological conditions like stroke and spinal cord injury, virtual reality's ability to manipulate bodily perceptions offers significant therapeutic potential, with reported improvements in upper limb function and gait performance. Balance and gait rehabilitation, especially in older adults, have also seen positive outcomes. The integration of virtual reality with brain-computer interfaces presents exciting possibilities for severe speech and motor impairments.SUMMARYCurrent research is limited by small sample sizes, short intervention durations, and variability in virtual reality systems. Future studies should focus on larger, long-term trials to confirm findings and explore underlying mechanisms. As virtual reality technology advances, its integration into rehabilitation programs could revolutionize treatment approaches, personalizing treatments, facilitating home training, and potentially improving patient outcomes across a wide variety of conditions.","PeriodicalId":11059,"journal":{"name":"Current Opinion in Neurology","volume":"34 1","pages":""},"PeriodicalIF":4.8,"publicationDate":"2024-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142216536","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

PET-based brain molecular connectivity in neurodegenerative disease. 神经退行性疾病中基于 PET 的大脑分子连接。

IF 4.1 2区医学

Current Opinion in Neurology Pub Date : 2024-08-01 Epub Date: 2024-05-30 DOI: 10.1097/WCO.0000000000001283

Jordan U Hanania, Erik Reimers, Connor W J Bevington, Vesna Sossi

{"title":"PET-based brain molecular connectivity in neurodegenerative disease.","authors":"Jordan U Hanania, Erik Reimers, Connor W J Bevington, Vesna Sossi","doi":"10.1097/WCO.0000000000001283","DOIUrl":"10.1097/WCO.0000000000001283","url":null,"abstract":"Purpose of review: Molecular imaging has traditionally been used and interpreted primarily in the context of localized and relatively static neurochemical processes. New understanding of brain function and development of novel molecular imaging protocols and analysis methods highlights the relevance of molecular networks that co-exist and interact with functional and structural networks. Although the concept and evidence of disease-specific metabolic brain patterns has existed for some time, only recently has such an approach been applied in the neurotransmitter domain and in the context of multitracer and multimodal studies. This review briefly summarizes initial findings and highlights emerging applications enabled by this new approach.Recent findings: Connectivity based approaches applied to molecular and multimodal imaging have uncovered molecular networks with neurodegeneration-related alterations to metabolism and neurotransmission that uniquely relate to clinical findings; better disease stratification paradigms; an improved understanding of the relationships between neurochemical and functional networks and their related alterations, although the directionality of these relationships are still unresolved; and a new understanding of the molecular underpinning of disease-related alteration in resting-state brain activity.Summary: Connectivity approaches are poised to greatly enhance the information that can be extracted from molecular imaging. While currently mostly contributing to enhancing understanding of brain function, they are highly likely to contribute to the identification of specific biomarkers that will improve disease management and clinical care.","PeriodicalId":11059,"journal":{"name":"Current Opinion in Neurology","volume":" ","pages":"353-360"},"PeriodicalIF":4.1,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141175194","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