{"title":"运动神经元疾病诊断和管理的新进展。","authors":"David O'Brien, Pamela J Shaw","doi":"10.1093/bmb/ldae010","DOIUrl":null,"url":null,"abstract":"<p><strong>Introduction: </strong>Motor neuron disease (MND) is a devastating neurodegenerative disease characterized by progressive muscle weakness.</p><p><strong>Sources of data: </strong>PubMed, MEDLINE, and Cochrane databases were searched for articles to March 2024. Searches involved the terms 'motor neuron disease' or 'amyotrophic lateral sclerosis' and 'epidemiology', 'diagnosis', 'clinical', 'genetic', 'management', 'treatment', or 'trial'.</p><p><strong>Areas of agreement: </strong>Evidence-based management involves riluzole, multidisciplinary care, provision of noninvasive ventilation and gastrostomy, and symptomatic treatments. Tofersen should be offered to treat SOD1-MND.</p><p><strong>Areas of controversy: </strong>Edaravone and Relyvrio are approved treatments in the USA, but insufficient evidence was found to support approval in the UK and Europe.</p><p><strong>Growing points: </strong>The discovery of neurofilaments as MND biomarkers, growth of platform trials and development of novel therapies provide optimism for more powerful neuroprotective therapies.</p><p><strong>Areas timely for developing research: </strong>Further work should focus on the elucidation of environmental causes of MND, gene-environment interactions, and advanced cellular models of disease.</p>","PeriodicalId":9280,"journal":{"name":"British medical bulletin","volume":" ","pages":"4-15"},"PeriodicalIF":6.7000,"publicationDate":"2024-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"New developments in the diagnosis and management of motor neuron disease.\",\"authors\":\"David O'Brien, Pamela J Shaw\",\"doi\":\"10.1093/bmb/ldae010\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Introduction: </strong>Motor neuron disease (MND) is a devastating neurodegenerative disease characterized by progressive muscle weakness.</p><p><strong>Sources of data: </strong>PubMed, MEDLINE, and Cochrane databases were searched for articles to March 2024. Searches involved the terms 'motor neuron disease' or 'amyotrophic lateral sclerosis' and 'epidemiology', 'diagnosis', 'clinical', 'genetic', 'management', 'treatment', or 'trial'.</p><p><strong>Areas of agreement: </strong>Evidence-based management involves riluzole, multidisciplinary care, provision of noninvasive ventilation and gastrostomy, and symptomatic treatments. Tofersen should be offered to treat SOD1-MND.</p><p><strong>Areas of controversy: </strong>Edaravone and Relyvrio are approved treatments in the USA, but insufficient evidence was found to support approval in the UK and Europe.</p><p><strong>Growing points: </strong>The discovery of neurofilaments as MND biomarkers, growth of platform trials and development of novel therapies provide optimism for more powerful neuroprotective therapies.</p><p><strong>Areas timely for developing research: </strong>Further work should focus on the elucidation of environmental causes of MND, gene-environment interactions, and advanced cellular models of disease.</p>\",\"PeriodicalId\":9280,\"journal\":{\"name\":\"British medical bulletin\",\"volume\":\" \",\"pages\":\"4-15\"},\"PeriodicalIF\":6.7000,\"publicationDate\":\"2024-12-12\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"British medical bulletin\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1093/bmb/ldae010\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"British medical bulletin","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1093/bmb/ldae010","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"Medicine","Score":null,"Total":0}
New developments in the diagnosis and management of motor neuron disease.
Introduction: Motor neuron disease (MND) is a devastating neurodegenerative disease characterized by progressive muscle weakness.
Sources of data: PubMed, MEDLINE, and Cochrane databases were searched for articles to March 2024. Searches involved the terms 'motor neuron disease' or 'amyotrophic lateral sclerosis' and 'epidemiology', 'diagnosis', 'clinical', 'genetic', 'management', 'treatment', or 'trial'.
Areas of agreement: Evidence-based management involves riluzole, multidisciplinary care, provision of noninvasive ventilation and gastrostomy, and symptomatic treatments. Tofersen should be offered to treat SOD1-MND.
Areas of controversy: Edaravone and Relyvrio are approved treatments in the USA, but insufficient evidence was found to support approval in the UK and Europe.
Growing points: The discovery of neurofilaments as MND biomarkers, growth of platform trials and development of novel therapies provide optimism for more powerful neuroprotective therapies.
Areas timely for developing research: Further work should focus on the elucidation of environmental causes of MND, gene-environment interactions, and advanced cellular models of disease.
期刊介绍：
British Medical Bulletin is a multidisciplinary publication, which comprises high quality reviews aimed at generalist physicians, junior doctors, and medical students in both developed and developing countries.
Its key aims are to provide interpretations of growing points in medicine by trusted experts in the field, and to assist practitioners in incorporating not just evidence but new conceptual ways of thinking into their practice.
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