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

doi:10.1212/WNL.0b013e3181e6210e

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

Psychology

Research output: Contribution to journal › Article › peer-review

68 Citations (Scopus)

Abstract

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.

Original language	English
Pages (from-to)	49-56
Number of pages	8
Journal	Neurology
Volume	75
Issue number	1
DOIs	https://doi.org/10.1212/WNL.0b013e3181e6210e
Publication status	Published - 6 Jul 2010

Keywords

Adolescent
Adult
Cerebral Cortex
Cross-Sectional Studies
Diffusion Tensor Imaging
Female
Humans
Male
Nerve Fibers, Myelinated
Niemann-Pick Disease, Type C
Young Adult

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10.1212/WNL.0b013e3181e6210e

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abstract = "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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T1 - White and gray matter alterations in adults with Niemann-Pick disease type C

T2 - a cross-sectional study

AU - Walterfang, M

AU - Fahey, M

AU - Desmond, P

AU - Wood, A

AU - Seal, M L

AU - Steward, C

AU - Adamson, C

AU - Kokkinos, C

AU - Fietz, M

AU - Velakoulis, D

PY - 2010/7/6

Y1 - 2010/7/6

N2 - 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.

AB - 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.

KW - Adolescent

KW - Adult

KW - Cerebral Cortex

KW - Cross-Sectional Studies

KW - Diffusion Tensor Imaging

KW - Female

KW - Humans

KW - Male

KW - Nerve Fibers, Myelinated

KW - Niemann-Pick Disease, Type C

KW - Young Adult

U2 - 10.1212/WNL.0b013e3181e6210e

DO - 10.1212/WNL.0b013e3181e6210e

M3 - Article

C2 - 20484681

SN - 0028-3878

VL - 75

SP - 49

EP - 56

JO - Neurology

JF - Neurology

IS - 1

ER -

White and gray matter alterations in adults with Niemann-Pick disease type C: a cross-sectional study

Abstract

Keywords

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