A whole-brain structural connectivity signature in adult Niemann-Pick disease type C.

ABSTRACT: Niemann-Pick disease type C (NPC) is a rare genetic lysosomal storage disorder with a clinically heterogeneous phenotype that primarily affects the brain, liver and spleen. Most cases of NPC are diagnosed in childhood, but a subset of patients who are diagnosed in adulthood present with psychiatric symptoms and are initially diagnosed as schizophrenia or a mood disorder. Neuroimaging studies in NPC show a predilection for neurodegeneration in the subcortical nuclei, the cerebellum and subcortical white matter. We aimed to explore how adult NPC affects the connectivity of networks and hypothesized a state of widespread disconnectivity, particularly in subcortical areas. This cross-sectional neuroimaging study used diffusion-weighted magnetic resonance imaging to perform whole-brain tractogr

SUBMITTER: Reilly TC 

PROVIDER: S-EPMC12631124 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature