Neurofilament light is a treatment-responsive biomarker in CLN2 disease.

ABSTRACT:

Objective

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.

Methods

Using an ultrasensitive immunoassay

SUBMITTER: Ru Y 

PROVIDER: S-EPMC6917340 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature