Blood diagnostic and prognostic biomarkers in amyotrophic lateral sclerosis  

作　　者：Yongting Lv Hongfu Li 

机构地区：[1]Department of Neurology,Second Affiliated Hospital,Zhejiang University School of Medicine,Hangzhou,Zhejiang Province,China [2]Department of Medical Genetics and Center for Rare disease,Second Affiliated Hospital,Zhejiang University School of Medicine,Hangzhou,Zhejiang Province,China [3]Nanhu Brain-Computer Interface Institute,Hangzhou,Zhejiang Province

出　　处：《Neural Regeneration Research》2025年第9期2556-2570,共15页中国神经再生研究（英文版）

摘　　要：Amyotrophic lateral sclerosis is a devastating neurodegenerative disease for which the current treatment approaches remain severely limited.The principal pathological alterations of the disease include the selective degeneration of motor neurons in the brain,brainstem,and spinal cord,as well as abnormal protein deposition in the cytoplasm of neurons and glial cells.The biological markers under extensive scrutiny are predominantly located in the cerebrospinal fluid,blood,and even urine.Among these biomarke rs,neurofilament proteins and glial fibrillary acidic protein most accurately reflect the pathologic changes in the central nervous system,while creatinine and creatine kinase mainly indicate pathological alterations in the peripheral nerves and muscles.Neurofilament light chain levels serve as an indicator of neuronal axonal injury that remain stable throughout disease progression and are a promising diagnostic and prognostic biomarker with high specificity and sensitivity.However,there are challenges in using neurofilament light chain to diffe rentiate amyotrophic lateral sclerosis from other central nervous system diseases with axonal injury.Glial fibrillary acidic protein predominantly reflects the degree of neuronal demyelination and is linked to non-motor symptoms of amyotrophic lateral sclerosis such as cognitive impairment,oxygen saturation,and the glomerular filtration rate.TAR DNA-binding protein 43,a pathological protein associated with amyotrophic lateral sclerosis,is emerging as a promising biomarker,particularly with advancements in exosome-related research.Evidence is currently lacking for the value of creatinine and creatine kinase as diagnostic markers;however,they show potential in predicting disease prognosis.Despite the vigorous progress made in the identification of amyotrophic lateral sclerosis biomarkers in recent years,the quest for definitive diagnostic and prognostic biomarke rs remains a formidable challenge.This review summarizes the latest research achievements concerning blood bioma

关 键 词：amyotrophic lateral sclerosis BIOMARKER blood biomarkers diagnosis glial fibrillary acidic protein neurofilament light chain PROGNOSIS TAR DNA-binding protein 43 

分 类 号：R744.8[医药卫生—神经病学与精神病学]