神经丝轻链蛋白与多聚谷氨酰胺病  

Neurofilament light chain and Polyglutamine disease

作　　者：龙夏菲 陈召[1] 江泓[1,2] Long Xiafei;Chen Zhao;Jiang Hong(Department of Neurology,Xiangya Hospital,Central South University,Changsha,Hunan 410008,China;Department of Neurology,the Third Xiangya Hospital,Central South University,Changsha,Hunan 410013,China)

机构地区：[1]中南大学湘雅医院神经内科,长沙410008 [2]中南大学湘雅三医院神经内科,长沙410013

出　　处：《中华医学遗传学杂志》2024年第9期1131-1138,共8页Chinese Journal of Medical Genetics

基　　金：国家重点研发计划(2021YFA0805200);国家自然科学基金(81974176、82171254、82371272)。

摘　　要：多聚谷氨酰胺(polyQ)病作为一组遗传性神经退行性疾病,患者在临床前期已出现大脑结构和功能的病理改变。随着检测技术的进步,神经丝轻链蛋白(NfL)作为轴突损伤的敏感标志,已成为神经系统疾病最有前景的生物标志物之一。NfL可作为polyQ病临床前期和临床期神经退行性变的生物标志物,并与疾病的严重程度和病程的进展密切相关,尤其是在疾病分期方面具有较大的潜力。本文对NfL作为polyQ病生物标志物的价值及其潜在的研究方向进行了综述。Polyglutamine(polyQ)disease is a group of hereditary neurodegenerative diseases.It has become clear that brain damage may occur decades before the onset of symptoms.As a sensitive marker for neuro-axonal damages,neurofilament light chain(NfL)has appeared as a promising biomarker for neurological diseases.it may be used as a preclinical and clinical marker for the neurodegeneration in polyQ diseases,and is closely correlated with disease severity and progression,in particular different disease stages.This article has provided a review for the value of NfL as a biomarker in polyQ disease and its future research directions.

关 键 词：多聚谷氨酰胺病 神经丝轻链蛋白 亨廷顿病 脊髓小脑性共济失调 生物标志物 

分 类 号：R741[医药卫生—神经病学与精神病学]