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Updated: Jun 14, 2026
Diffusion Tensor Magnetic Resonance Imaging in the Analysis of Neurodegenerative Diseases
Published on: July 28, 2013
Diffusion tensor imaging in Chediak Higashi Disease
Connor J Lewis1,2,3, Selby I Chipman1,2,3, Cynthia J Tifft1,2,3
1National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, USA.
Aim:
To define the natural history of diffusion tensor imaging (DTI) in Chediak-Higashi Disease (CHD) participants in relation to normative development.
Methods:
Twenty-five DTI scans from 15 CHD participants were compared with 100 DTI scans from 100 neurotypical controls (NC). Comparisons were evaluated for DTI metrics including fractional anisotropy (FA), and mean, axial, and radial diffusivity (MD, AD, RD, respectively). Correlational tractography was also performed to identify group differences between CHD and NC.
Results:
Pediatric CHD participants had DTI metrics similar to NC, however, progressive pathogenic increases in MD, AD, and RD were observed in CHD participants compared to NC in white matter pathways of the whole brain, corpus callosum, and cerebellum. Correlational fiber tractography identified fiber tracts with decreased FA, and increased MD, AD, and RD in CHD compared to NC.
Interpretation:
Progressive deviations in DTI metrics highlight the progressive neurodegeneration of CHD. Aberrations in cerebellar white matter is reflective of the clinical neurologic phenotype of CHD including cerebellar dysfunction and cognitive decline. The corollary of progressive aberrations in DTI metrics and progressive clinical neurodegeneration suggest DTI may be a suitable neuroimaging marker for CHD. Future studies should evaluate functional magnetic resonance imaging and volumetric studies in this cohort.
