Shape alterations in the striatum in chorea-acanthocytosis


Autoria(s): WALTERFANG, Mark; LOOI, Jeffrey Chee Leong; STYNER, Martin; WALKER, Ruth H.; DANEK, Adrian; NIETHAMMER, Marc; EVANS, Andrew; KOTSCHET, Katya; RODRIGUES, Guilherme R.; HUGHES, Andrew; VELAKOULIS, Dennis
Contribuinte(s)

UNIVERSIDADE DE SÃO PAULO

Data(s)

19/10/2012

19/10/2012

2011

Resumo

Chorea-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. (C) 2010 Elsevier Ireland Ltd. All rights reserved.

Advocacy for Neuroacanthocytosis Patients

UNC Neurodevelopmental Disorders Research Centre[HD 03110]

NIH[U54 EB005149-01]

National Alliance for Medical Image Computing

Melbourne Neuropsychiatry Centre

Identificador

PSYCHIATRY RESEARCH-NEUROIMAGING, v.192, n.1, p.29-36, 2011

0925-4927

http://producao.usp.br/handle/BDPI/25045

10.1016/j.pscychresns.2010.10.006

http://dx.doi.org/10.1016/j.pscychresns.2010.10.006

Idioma(s)

eng

Publicador

ELSEVIER IRELAND LTD

Relação

Psychiatry Research-neuroimaging

Direitos

restrictedAccess

Copyright ELSEVIER IRELAND LTD

Palavras-Chave #Neuroacanthocytosis #Chorea-acanthocytosis #Chorea #Caudate #Striatum #Neurodegeneration #OBSESSIVE-COMPULSIVE DISORDER #VOXEL-BASED MORPHOMETRY #CAUDATE-NUCLEUS #BASAL GANGLIA #HUNTINGTONS-DISEASE #NEUROACANTHOCYTOSIS #CIRCUITS #PROTEIN #IMAGES #BRAIN #Clinical Neurology #Neuroimaging #Psychiatry
Tipo

article

original article

publishedVersion