Corpus callosum diffusion tensor imaging and volume measures are associated with disease severity in pediatric Niemann-Pick disease type C1.

ABSTRACT:

Background

Niemann-Pick disease type C1 is a neurodegenerative lysosomal storage disorder. Without a highly effective treatment, biomarkers of severity would be beneficial for prognostication and testing new interventions. Diffusion tensor imaging has shown microstructural abnormalities in adults with Niemann-Pick disease type C1. This is the first study to apply diffusion tensor imaging and volume analysis to evaluate the corpus callosum in a pediatric and adolescent population of patients with Niemann-Pick disease type C1. We hypothesized that the callosal fractional anisotropy, volume, and cross-sectional area will negatively correlate with NPC severity score.

Methods

Thirty-nine individuals with Niemann-Pick disease type C1 aged 1-21.9 years (mean = 11.1; S.D. = 6.1), an

SUBMITTER: Lee R 

PROVIDER: S-EPMC4696056 | biostudies-literature | 2014 Nov

REPOSITORIES: biostudies-literature