White and gray matter alterations in adults with Niemann-Pick disease type C

Mark Walterfang, Michael Fahey, Patricia Desmond, Amanda Wood, Marc Seal, Christopher Steward, Christopher Adamson, C Kokkinos, Michael Fietz, Dennis Velakoulis

Research output: Contribution to journalArticleResearchpeer-review

66 Citations (Scopus)

Abstract

Niemann-Pick disease type C (NPC) is a progressive neurovisceral disorder witih disrupted intracelllar cholesterol metabolism that results in significant alterations to neuronal and axonal structure. Adult patients present with ataxia, gaze palsy, impaired cognition and neuro-psychiatric illness, but the neural substrate has not been well-characterized in vivo. Our aim as to investigate a well-characterized sample of adults with confirmed NPC for gray and white matter abnormalities.
Original languageEnglish
Pages (from-to)49 - 56
Number of pages8
JournalNeurology
Volume75
Issue number1
DOIs
Publication statusPublished - 6 Jul 2010

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