Shape alterations in the striatum in chorea-acanthocytosis

Simple item page
dc.contributor.authorWalterfang, Mark
dc.contributor.authorLooi, Jeffrey
dc.contributor.authorStyner, Martin
dc.contributor.authorWalker, Ruth H
dc.contributor.authorDanek, Adrian
dc.contributor.authorNiethammer, Marc
dc.contributor.authorEvans, Andrew
dc.contributor.authorKotschet, Katya
dc.contributor.authorRodrigues, Guilherme R
dc.contributor.authorHughes, Andrew
dc.contributor.authorVelakoulis, Dennis
dc.date.accessioned2015-12-10T23:20:30Z
dc.date.issued2011
dc.date.updated2016-02-24T08:11:26Z
dc.description.abstractChorea-acanthocytosis (ChAc) is an uncommon autosomal recessive disorder due to mutations of the VPS13A gene, which encodes for the membrane protein chorein. ChAc presents with progressive limb and orobuccal chorea, but there is often a marked dysexecutive syndrome. ChAc may first present with neuropsychiatric disturbance such as obsessive-compulsive disorder (OCD), suggesting a particular role for disruption to striatal structures involved in non-motor frontostriatal loops, such as the head of the caudate nucleus. Two previous studies have suggested a marked reduction in volume in the caudate nucleus and putamen, but did not examine morphometric change. We investigated morphometric change in 13 patients with genetically or biochemically confirmed ChAc and 26 age- and gender-matched controls. Subjects underwent magnetic resonance imaging and manual segmentation of the caudate nucleus and putamen, and shape analysis using a non-parametric spherical harmonic technique. Both structures showed significant and marked reductions in volume compared with controls, with reduction greatest in the caudate nucleus. Both structures showed significant shape differences, particularly in the head of the caudate nucleus. No significant correlation was shown between duration of illness and striatal volume or shape, suggesting that much structural change may have already taken place at the time of symptom onset. Our results suggest that striatal neuron loss may occur early in the disease process, and follows a dorsal-ventral gradient that may correlate with early neuropsychiatric and cognitive presentations of the disease.
dc.identifier.issn0925-4927
dc.identifier.urihttp://hdl.handle.net/1885/66360
dc.publisherElsevier
dc.sourcePsychiatry Research: Neuroimaging
dc.subjectKeywords: adult; article; caudate nucleus; chorea-acanthocytosis; clinical article; cognition; controlled study; corpus striatum; female; gene mutation; human; male; neuropsychiatry; nuclear magnetic resonance imaging; obsessive compulsive disorder; priority journa Caudate; Chorea; Chorea-acanthocytosis; Neuroacanthocytosis; Neurodegeneration; Striatum
dc.titleShape alterations in the striatum in chorea-acanthocytosis
dc.typeJournal article
local.bibliographicCitation.lastpage36
local.bibliographicCitation.startpage29
local.contributor.affiliationWalterfang, Mark, Royal Melbourne Hospital
local.contributor.affiliationLooi, Jeffrey, College of Medicine, Biology and Environment, ANU
local.contributor.affiliationStyner, Martin, University of North Carolina
local.contributor.affiliationWalker, Ruth H, Mount Sinai School of Medicine
local.contributor.affiliationDanek, Adrian, Ludwig-Maximilians Universitat
local.contributor.affiliationNiethammer, Marc, University of North Carolina
local.contributor.affiliationEvans, Andrew, Royal Melbourne Hospital
local.contributor.affiliationKotschet, Katya, St Vincent's Hospital
local.contributor.affiliationRodrigues, Guilherme R, University of Sao Paulo
local.contributor.affiliationHughes, Andrew, Austin Hospital
local.contributor.affiliationVelakoulis, Dennis, Royal Melbourne Hospital
local.contributor.authoremailu4593152@anu.edu.au
local.contributor.authoruidLooi, Jeffrey, u4593152
local.description.embargo2037-12-31
local.description.notesImported from ARIES
local.identifier.absfor119999 - Medical and Health Sciences not elsewhere classified
local.identifier.ariespublicationf2965xPUB1270
local.identifier.citationvolume192
local.identifier.doi10.1016/j.pscychresns.2010.10.006
local.identifier.scopusID2-s2.0-79952901567
local.identifier.thomsonID000289602300004
local.identifier.uidSubmittedByf2965
local.type.statusPublished Version

Downloads

Original bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
01_Walterfang_Shape_alterations_in_the_2011.pdf
Size:
992.66 KB
Format:
Adobe Portable Document Format
Download

Collections

ANU Research Publications

DSpace software copyright © 2002-2024 LYRASIS