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.

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