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

  title={White and gray matter alterations in adults with Niemann-Pick disease type C},
  author={Mark Walterfang and Michael C Fahey and Patricia M. Desmond and Amanda G. Wood and Marc L. Seal and Christopher E Steward and Christopher L. Adamson and Chris Kokkinos and Michael J. Fietz and Dennis Velakoulis},
  pages={49 - 56}
Objective: Niemann-Pick disease type C (NPC) is a progressive neurovisceral disorder with disrupted intracellular cholesterol metabolism that results in significant alterations to neuronal and axonal structure. Adult patients present with ataxia, gaze palsy, impaired cognition, and neuropsychiatric illness, but the neural substrate has not been well-characterized in vivo. Our aim was to investigate a well-characterized sample of adults with confirmed NPC for gray and white matter abnormalities… 

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