MARKER OF NEUROPATHIC GAUCHER'S DISEASE AND METHODS OF USE THEREOF

摘要

A biomarker of the neuronopathic types of Gaucher's disease (nGD) is provided, and use thereof for assisting the diagnosis of this form of the disease and its severity. In particular, use of the level of trans-membrane glycoprotein non-metastatic B (GPNMB) or a fragment thereof in the cerebrospinal fluid (CSF) as a diagnostic marker of nGD is provided. Further provided are methods for selecting drugs and assessing the efficacy of drugs and therapies for treating nGD.