Niemann-Pick disease type C (NPC) is a rare neurovisceral disorder resulting in impaired intracellular lipid trafficking. The only disease-modifying treatment available to date is miglustat, an iminosugar inhibiting the accumulation of lipid by-products in neurons. This study explored how changes in cerebellar grey and white matter volumes, and in subcortical volumes, related to patient treatment status and disability and ataxia ratings.
Bowman, E., Walterfang, M., Abel, L. A., Desmond, P. M., Fahey, M. C., & Velakoulis, D. (2015). Longitudinal changes in cerebellar and subcortical volumes in adult-onset Niemann-Pick disease type C patients treated with miglustat. Journal of Neurology, 262(9), 2106 - 2114. https://doi.org/10.1007/s00415-015-7819-z