Hypometabolism and atrophy patterns associated with Niemann-Pick type C

Abstract Background Niemann–Pick disease type C (NP-C) is a rare genetic lysosomal lipid storage disorder characterized by progressive neurological impairment. Early diagnosis is critical for initiating treatment with miglustat, which can decelerate disease progression. In this study, we evaluated a cohort of 22 NP-C patients who underwent MRI, [18F]FDG PET, and clinical assessment at baseline. We performed a cross-sectional and longitudinal imaging study evaluating the role of [18F]FDG PET as an adjunct diagnostic tool for NP-C alongside MRI, the current neuroimaging standard. Results Group-level MRI analysis identified significant cerebellar and thalamic atrophy (d = 1.56, p