Serum neurofilament light protein as a biomarker in Niemann-Pick disease, type C1.

ABSTRACT:

Purpose

Niemann-Pick disease, type C1 (NPC1) is a fatal, neurodegenerative disease caused by pathological variants in NPC1. Analysis of serum neurofilament light (NfL), a marker of neuronal damage, could be useful as a biomarker for patient monitoring and clinical trial design.

Methods

We measured NfL levels in serum samples from 118 well-characterized individuals with NPC1 and analyzed them with respect to clinical measures and treatment status.

Results

The results show a 6.1-fold increase in serum NfL in individuals with NPC1 compared with age-appropriate controls. Moreover, serum NfL levels showed a significant positive correlation with age of neurological symptom onset and the annual severity increment score. Serum NfL levels were also positively correlated

SUBMITTER: Cawley NX 

PROVIDER: S-EPMC12351337 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature