期刊
CURRENT OPINION IN NEUROLOGY
卷 35, 期 5, 页码 699-704出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/WCO.0000000000001094
关键词
amyotrophic lateral sclerosis; biomarkers; C9orf72; neurofilaments; SOD1
Amyotrophic lateral sclerosis (ALS) is an incurable and devastating neurodegenerative disease with limited treatment options. However, there is promising progress in potential treatments currently being tested in clinical trials. This review discusses recent advances in ALS biomarker research and applications, as well as future directions and needs.
Purpose of review Amyotrophic lateral sclerosis (ALS) is an incurable, devastating neurodegenerative disease. Still, the diagnosis is mainly based on clinical symptoms, and the treatment options are strongly limited. However, the pipeline of potential treatments currently tested in clinical trials is promising. This review will discuss developments in ALS biomarker research and applications within the last 2 years and suggest future directions and needs. Recent findings The diagnostic and prognostic utility of neurofilaments, a general marker for axoneuronal degeneration, has been confirmed by further studies in patients with ALS, and neurofilaments are finding their way into routine diagnostic and clinical trials. Additionally, there have been advancements in developing and implementing disease-specific biomarkers, especially in patients with a genetic variant, such as SOD1 or C9orf72. Here, biomarkers have already been used as target markers and outcome parameters for novel treatment approaches. In addition, several novel biomarkers have shown encouraging results but should be discussed in the context of their early stage of assay and clinical establishment. Summary The first biomarkers have found their way into clinical routine in ALS. In light of an increasing pipeline of potential treatments, further progress in discovering and implementing novel and existing biomarkers is crucial.
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