P148: Multimodal characterization of neurological symptoms in Niemann-Pick disease type C

Niemann-Pick disease Type C (NPC) is a lysosomal storage disease characterized by progressive neurodegeneration and multiple neurological symptoms including, but not limited to, motor impairment, dysarthria, and cognitive dysfunction. The objective of the current study was to identify cortical, subcortical and cerebellar morphological alterations as well as probe central nervous system (CNS) dysfunction in patients with NPC in the context of core neurological symptoms present in NPC. In our multimodal approach, we combined clinical assessments, behavioral test batteries, functional and structural magnetic resonance imaging (MRI), and for the first time, functional near infrared spectroscopy (fNIRS); a flexible, portable, and non-invasive optical neuroimaging tool used to quantify cortical CNS function.