Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is a rare, progressive, fatal neurodegenerative pediatric disorder resulting from deficiencies of the lysosomal enzyme tripeptidyl peptidase 1 that are caused by mutations in TPP1. Identifying biomarkers of CLN2 disease progression will be important in assessing the efficacy of therapeutic interventions for this disorder. Neurofilament light is an intrinsic component of healthy neurons; elevated circulating extracellular neurofilament light is a biomarker of neuropathology in several adult‐onset neurological diseases. Our objective was to assess whether circulating neurofilament light is a biomarker that is responsive to enzyme replacement therapy (ERT) in CLN2 disease.

中文翻译：

---

神经丝光是CLN2疾病的一种治疗反应性生物标志物。

2型神经元类脂褐藻病（CLN2疾病）是一种罕见的，进行性，致命的神经退行性小儿疾病，其原因是TPP1突变引起的溶酶体酶三肽基肽酶1缺乏。鉴定CLN2疾病进展的生物标志物对于评估该疾病的治疗干预效果非常重要。神经丝光是健康神经元的内在成分。在几种成年性神经系统疾病中，升高的循环细胞外神经丝光是神经病理学的生物标志物。我们的目标是评估循环神经丝光是否是对CLN2疾病中的酶替代疗法（ERT）有反应的生物标志物。