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July 06, 2010; 75 (1) Articles

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

A cross-sectional study

M. Walterfang, M. Fahey, P. Desmond, A. Wood, M.L. Seal, C. Steward, C. Adamson, C. Kokkinos, M. Fietz, D. Velakoulis
First published May 19, 2010, DOI: https://doi.org/10.1212/WNL.0b013e3181e6210e
M. Walterfang
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M. Fahey
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P. Desmond
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A. Wood
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M.L. Seal
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C. Steward
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C. Adamson
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M. Fietz
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Citation
White and gray matter alterations in adults with Niemann-Pick disease type C
A cross-sectional study
M. Walterfang, M. Fahey, P. Desmond, A. Wood, M.L. Seal, C. Steward, C. Adamson, C. Kokkinos, M. Fietz, D. Velakoulis
Neurology Jul 2010, 75 (1) 49-56; DOI: 10.1212/WNL.0b013e3181e6210e

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Abstract

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.

Methods: We utilized a combination of optimized voxel-based morphometry of T1-weighted images and tract-based spatial statistics of diffusion tensor images to examine gray matter volume and white matter structural differences in 6 adult patients with NPC and 18 gender- and age-matched controls.

Results: Patients with NPC demonstrated bilateral gray matter reductions in large clusters in bilateral hippocampus, thalamus, superior cerebellum, and insula, in addition to smaller regions of inferoposterior cortex. Patients demonstrated widespread reductions in fractional anisotropy in major white matter tracts. Subsequent analysis of measures of axial and radial diffusivity suggest that these changes are contributed to by both impaired myelination and altered axonal structure.

Conclusions: Findings in gray matter areas are broadly consistent with human and animal studies of selective vulnerability of neuronal populations to the neuropathology of NPC, whereas more widespread white matter changes are consistent with the hypothesis that disrupted myelination and axonal structure predate changes to the neuronal cell body. These findings suggest that volumetric analysis of gray matter and diffusion tensor imaging may be useful modalities for indexing illness stage and monitoring response to emerging treatment.

Footnotes

  • Supplemental data at www.neurology.org

    e-Pub ahead of print on May 19, 2010, at www.neurology.org.

    Study funding: Supported by a Pfizer Neuroscience Research Grant (to M.W.).

    Disclosure: Author disclosures are provided at the end of the article.

    Received November 21, 2009. Accepted in final form February 23, 2010.

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Letters: Rapid online correspondence

  • White and gray matter alterations in adults with Niemann-Pick disease type C: A cross-sectional stud
    • Michael Scheel, University of British Columbia, Vancouver General Hospital Eye Care Centre, 2550 Willow Street, Vancouver, B.C. Canada V5Z 3N9mscheel@eyecarecentre.org
    • Mathias Abegg (mabegg@eyecarecentre.org), Linda J Lanyon (llanyon@eyecarecentre.org), Andre Mattman (AMattman@providencehealth.bc.ca), Jason J Barton (jasonbarton@show.ca)
    Submitted September 16, 2010
  • Reply from the authors
    • Mark A. Walterfang, Neuropsychiatry Unit, Royal Melbourne Hospital, Level 2, John-Cade Building, Royal Melbourne Hospitalmark.walterfang@mh.org.au
    • Michael Fahey (mcfahey@mac.com), Amanda Wood (amanda.wood@mcri.edu.au), Patricia Desmond (patricia.desmond@mh.org.au), Dennis Velakoulis (dennis.velakoulis@mh.org.au)
    Submitted September 16, 2010
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