Eye movement and diffusion tensor imaging analysis of treatment effects in a Niemann-Pick Type C patient

Molecular Genetics and Metabolism
Michael ScheelJason J Barton

Abstract

New treatment options for Niemann-Pick Type C (NPC) have recently become available. To assess the efficiency and efficacy of these new treatment markers for disease status and progression are needed. Both the diagnosis and the monitoring of disease progression are challenging and mostly rely on clinical impression and functional testing of horizontal eye movements. Diffusion tensor imaging (DTI) provides information about the microintegrity especially of white matter. We show here in a case report how DTI and measures derived from this imaging method can serve as adjunct quantitative markers for disease management in Niemann-Pick Type C. Two approaches are taken--first, we compare the fractional anisotropy (FA) in the white matter globally between a 29-year-old NPC patient and 18 healthy age-matched controls and show the remarkable difference in FA relatively early in the course of the disease. Second, a voxelwise comparison of FA values reveals where white matter integrity is compromised locally and demonstrate an individualized analysis of FA changes before and after 1year of treatment with Miglustat. This method might be useful in future treatment trials for NPC to assess treatment effects.

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Citations

Dec 18, 2013·Drugs·Katherine A Lyseng-Williamson
May 21, 2011·AJNR. American Journal of Neuroradiology·M WalterfangD Velakoulis
Mar 15, 2011·Molecular Genetics and Metabolism·Wafaa ZaaraouiBertrand Audoin
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May 11, 2012·Molecular Genetics and Metabolism·Marc C PattersonUNKNOWN NP-C Guidelines Working Group
Mar 5, 2016·AJNR. American Journal of Neuroradiology·J Davies-ThompsonJ J S Barton
Apr 8, 2018·Orphanet Journal of Rare Diseases·Tarekegn GeberhiwotUNKNOWN International Niemann-Pick Disease Registry (INPDR)
Jun 8, 2010·Orphanet Journal of Rare Diseases·Marie T Vanier
Aug 17, 2018·Orphanet Journal of Rare Diseases·Mercè PinedaMarc C Patterson
Jun 24, 2020·The Cerebellum·Deborah Moreira RangelPedro Braga-Neto
Aug 28, 2021·International Journal of Molecular Sciences·Antonietta BernardoAntonella Ferrante

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