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Diseases 2016, 4(3), 29; doi:10.3390/diseases4030029

Role of Diffusion Tensor Imaging in Prognostication and Treatment Monitoring in Niemann-Pick Disease Type C1

1
Research Department, Shriners Hospitals for Children, Honolulu, HI 96822, USA
2
John A. Burns School of Medicine, University of Hawaii, Honolulu, HI 96813, USA
3
Department of Neurology, Shriners Hospitals for Children, Honolulu, HI 96822, USA
4
Department of Pediatrics, John A. Burns School of Medicine, University of Hawaii, Honolulu, HI 96813, USA
5
Department of Psychiatry, Kennedy Krieger Institute, Baltimore, MD 21205, USA
6
National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
7
Department of Radiology, School of Medicine, Johns Hopkins University, Baltimore, MD 21205, USA
8
Division of Neurogenetics, Children’s National Medical Center, Washington, DC 20010, USA
9
Department of Radiology and Imaging Sciences, National Institutes of Health, Bethesda, MD 20892, USA
*
Author to whom correspondence should be addressed.
Academic Editors: Jose A. Sanchez-Alcazar and Luis M. Jiménez Jiménez
Received: 17 May 2016 / Revised: 17 August 2016 / Accepted: 1 September 2016 / Published: 8 September 2016
(This article belongs to the Collection Lysosomal Storage Diseases)
View Full-Text   |   Download PDF [673 KB, uploaded 8 September 2016]   |  

Abstract

Niemann-Pick Disease, type C1 (NPC1) is a rapidly progressive neurodegenerative disorder characterized by cholesterol sequestration within late endosomes and lysosomes, for which no reliable imaging marker exists for prognostication and management. Cerebellar volume deficits are found to correlate with disease severity and diffusion tensor imaging (DTI) of the corpus callosum and brainstem, which has shown that microstructural disorganization is associated with NPC1 severity. This study investigates the utility of cerebellar DTI in clinical severity assessment. We hypothesize that cerebellar volume, fractional anisotropy (FA) and mean diffusivity (MD) negatively correlate with NIH NPC neurological severity score (NNSS) and motor severity subscores. Magnetic resonance imaging (MRI) was obtained for thirty-nine NPC1 subjects, ages 1–21.9 years (mean = 11.1, SD = 6.1). Using an atlas-based automated approach, the cerebellum of each patient was measured for FA, MD and volume. Additionally, each patient was given an NNSS. Decreased cerebellar FA and volume, and elevated MD correlate with higher NNSS. The cognition subscore and motor subscores for eye movement, ambulation, speech, swallowing, and fine motor skills were also statistically significant. Microstructural disorganization negatively correlated with motor severity in subjects. Additionally, Miglustat therapy correlated with lower severity scores across ranges of FA, MD and volume in all regions except the inferior peduncle, where a paradoxical effect was observed at high FA values. These findings suggest that DTI is a promising prognostication tool. View Full-Text
Keywords: Niemann-Pick; NPC; diffusion tensor imaging; DTI; cerebellum; motor function Niemann-Pick; NPC; diffusion tensor imaging; DTI; cerebellum; motor function
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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

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MDPI and ACS Style

Lau, M.W.; Lee, R.W.; Miyamoto, R.; Jung, E.S.; Yanjanin Farhat, N.; Yoshida, S.; Mori, S.; Gropman, A.; Baker, E.H.; Porter, F.D. Role of Diffusion Tensor Imaging in Prognostication and Treatment Monitoring in Niemann-Pick Disease Type C1. Diseases 2016, 4, 29.

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