Longitudinal Changes in White Matter Fractional Anisotropy in Adult-Onset Niemann-Pick Disease Type C Patients Treated with Miglustat

  • Elizabeth A. Bowman
  • Dennis Velakoulis
  • Patricia Desmond
  • Mark Walterfang
Research Report
Part of the JIMD Reports book series (JIMD, volume 39)


Niemann-Pick disease type C (NPC) is a rare neurometabolic disorder resulting in impaired intracellular lipid trafficking. The only disease-modifying treatment currently available is miglustat, an iminosugar that inhibits the accumulation of lipid metabolites in neurons and other cells. This longitudinal diffusion tensor imaging (DTI) study examined how the rate of white matter change differed between treated and non-treated adult-onset NPC patient groups. Nine adult-onset NPC patients (seven undergoing treatment with miglustat, two not treated) underwent DTI neuroimaging. Rates of change in white matter structure as indexed by Tract-Based Spatial Statistics (TBSS) of fractional anisotropy were compared between treated and untreated patients. Treated patients were found to have a significantly slower rate of white matter change in the corticospinal tracts, the thalamic radiation and the inferior longitudinal fasciculus. This is further evidence that miglustat treatment may have a protective effect on white matter structure in the adult-onset form of the disease.


Diffusion tensor imaging Fractional anisotropy Miglustat Niemann-Pick type C White matter 


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Copyright information

© SSIEM and Springer-Verlag Berlin Heidelberg 2017

Authors and Affiliations

  • Elizabeth A. Bowman
    • 1
  • Dennis Velakoulis
    • 2
    • 3
  • Patricia Desmond
    • 4
    • 5
  • Mark Walterfang
    • 2
    • 3
    • 6
  1. 1.Brain, Mind and Markets LaboratoryUniversity of MelbourneMelbourneAustralia
  2. 2.Neuropsychiatry UnitRoyal Melbourne HospitalMelbourneAustralia
  3. 3.Melbourne Neuropsychiatry CentreUniversity of MelbourneMelbourneAustralia
  4. 4.Department of RadiologyUniversity of MelbourneMelbourneAustralia
  5. 5.Department of RadiologyRoyal Melbourne HospitalMelbourneAustralia
  6. 6.Florey Institute of Neurosciences and Mental HealthMelbourneAustralia

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