Longitudinal changes in cerebellar and subcortical volumes in adult-onset Niemann-Pick disease type C patients treated with miglustat

Elizabeth Bowman, Mark Walterfang, Larry Allen Abel, Patricia M Desmond, Michael Collingwood Fahey, Dennis Velakoulis

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33 Citations (Scopus)


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.
Original languageEnglish
Pages (from-to)2106 - 2114
Number of pages9
JournalJournal of Neurology
Issue number9
Publication statusPublished - 2015

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