Implications of the choroid plexus in Niemann-Pick disease Type C neuropathogenesis.

ABSTRACT:

Background

Niemann-Pick Disease Type C (NPC) is an ultra-rare disorder characterized by progressive psychiatric and neurologic manifestations, with late infantile, juvenile, and adolescent/adult presentations. We examined morphological properties of the choroid plexus, a protective blood-cerebrospinal fluid barrier, in NPC, and their relationship with neurodegeneration, clinical status, and circulatory markers. This study also determined whether choroid plexus morphology differentiates between NPC and more prevalent illnesses, schizophrenia (SZ) and bipolar disorder (BD), which have overlapping psychiatric symptoms with adolescent and adult-onset NPC and are associated with misdiagnosis.

Methods

Patients with NPC were assessed using neuroimaging, clinical instruments, and pl

SUBMITTER: van Gool R 

PROVIDER: S-EPMC11787871 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature