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Diffusion Tensor Magnetic Resonance Imaging in the Analysis of Neurodegenerative Diseases
Published on: July 28, 2013
Microstructural white matter tract alteration in Prader-Willi syndrome: A diffusion tensor imaging study
Lauren J Rice1, Jim Lagopoulos1,2, Michael Brammer1,3
1Brain and Mind Centre, University of Sydney, Camperdown, Australia.
Insights
Prader-Willi Syndrome (PWS) involves brain abnormalities. Diffusion tensor imaging revealed reduced white matter integrity in the left hemisphere of individuals with PWS, potentially explaining cognitive and behavioral issues.
Area of Science:
- Neuroimaging
- Genetics
- Neurology
Background:
- Prader-Willi Syndrome (PWS) is a complex genetic disorder with significant neurological and behavioral manifestations.
- The underlying brain mechanisms, particularly white matter alterations, remain poorly understood.
- Previous neuroimaging studies in PWS have been limited in scope.
Purpose of the Study:
- To investigate whole-brain microstructural white matter changes in individuals with Prader-Willi Syndrome using diffusion tensor imaging (DTI).
- To correlate white matter integrity with known PWS-related dysfunctions.
Main Methods:
- Utilized diffusion tensor imaging (DTI) and T1-weighted magnetic resonance imaging (MRI) in 15 individuals with PWS and 15 age/gender-matched controls.
- Employed whole-brain, voxel-wise statistical analysis with tract-based spatial statistics (TBSS) to assess fractional anisotropy (FA).
Main Results:
- Significantly reduced fractional anisotropy (FA) was observed in the left hemisphere of individuals with PWS.
- Affected areas included the splenium of the corpus callosum, internal capsule (posterior thalamic radiation), and inferior frontal occipital fasciculus (IFOF).
Conclusions:
- These findings suggest compromised white matter integrity in specific left-hemisphere pathways in PWS.
- Reduced integrity in these tracts may underlie attention, emotion recognition, semantic processing, and sensorimotor deficits characteristic of PWS.
Abstract:
Prader-Willi Syndrome (PWS) is a genetic disorder characterized by infantile hypotonia, hyperphagia, hypogonadism, growth hormone deficiency, intellectual disability, and severe emotional and behavioral problems. The brain mechanisms that underpin these disturbances are unknown. Diffusion tensor imaging (DTI) enables in vivo investigation of the microstructural integrity of white matter pathways. To date, only one study has used DTI to examine white matter alterations in PWS. However, that study used selected regions of interest, rather than a whole brain analysis. In the present study, we used diffusion tensor and magnetic resonance (T 1-weighted) imaging to examine microstructural white matter changes in 15 individuals with PWS (17-30 years) and 15 age-and-gender-matched controls. Whole-brain voxel-wise statistical analysis of FA was carried out using tract-based spatial statistics (TBSS). Significantly decreased fractional anisotropy was found localized to the left hemisphere in individuals with PWS within the splenium of the corpus callosum, the internal capsule including the posterior thalamic radiation and the inferior frontal occipital fasciculus (IFOF). Reduced integrity of these white matter pathways in individuals with PWS may relate to orientating attention, emotion recognition, semantic processing, and sensorimotor dysfunction.

