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

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

Cite this

Walterfang, Mark ; Fahey, Michael ; Desmond, Patricia ; Wood, Amanda ; Seal, Marc ; Steward, Christopher ; Adamson, Christopher ; Kokkinos, C ; Fietz, Michael ; Velakoulis, Dennis. / White and gray matter alterations in adults with Niemann-Pick disease type C. In: Neurology. 2010 ; Vol. 75, No. 1. pp. 49 - 56.
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Walterfang, M, Fahey, M, Desmond, P, Wood, A, Seal, M, Steward, C, Adamson, C, Kokkinos, C, Fietz, M & Velakoulis, D 2010, 'White and gray matter alterations in adults with Niemann-Pick disease type C' Neurology, vol. 75, no. 1, pp. 49 - 56. https://doi.org/10.1212/WNL.0b013e3181e6210e

White and gray matter alterations in adults with Niemann-Pick disease type C. / Walterfang, Mark; Fahey, Michael; Desmond, Patricia; Wood, Amanda; Seal, Marc; Steward, Christopher; Adamson, Christopher; Kokkinos, C; Fietz, Michael; Velakoulis, Dennis.

In: Neurology, Vol. 75, No. 1, 06.07.2010, p. 49 - 56.

Research output: Contribution to journalArticleResearchpeer-review

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AU - Steward, Christopher

AU - Adamson, Christopher

AU - Kokkinos, C

AU - Fietz, Michael

AU - Velakoulis, Dennis

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AB - 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.

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DO - 10.1212/WNL.0b013e3181e6210e

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