IDENTIFICATION OF TWO NOVEL BIOMARKERS FOR NIEMANN-PICK DISEASE TYPE C

摘要

This invention provides novel biomarkers for Niemann-Pick disease, type C(NPC). In an exemplary embodiment, the invention provides methods for identifying a subject as having NPC. In embodiments, the methods involve detecting the level of biomarker selected from the group comprising i) galectin-3(LGALS3); ii) cathepsin D(CTSD); iii) LGALS3 and CTSD; and iv) LGALS3 and/or CTSD in combination at least one additional NPC associated biomarker in a sample obtained from the subject. In embodiments, the methods involve comparing the level of biomarker to a reference.