Head of the caudate nucleus is most vulnerable in chorea–acanthocytosis: A voxel‐based morphometry study
Identifieur interne : 003413 ( Main/Exploration ); précédent : 003412; suivant : 003414Head of the caudate nucleus is most vulnerable in chorea–acanthocytosis: A voxel‐based morphometry study
Auteurs : Karsten Henkel [Allemagne] ; Adrian Danek [Allemagne, États-Unis] ; Jordan Grafman [États-Unis] ; John Butman [États-Unis] ; Jan Kassubek [Allemagne]Source :
- Movement Disorders [ 0885-3185 ] ; 2006-10.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Acanthocytosis, Adult, Atrophy, Brain (pathology), Caudate Nucleus (pathology), Caudate nucleus, Chorea, Chorea (diagnosis), Chorea (genetics), Chromosome Aberrations, Corpus Striatum (pathology), Dominance, Cerebral (physiology), Female, Genes, Recessive, Head, Humans, Image Processing, Computer-Assisted, Magnetic Resonance Imaging, Male, Mathematical Computing, Morphometry, Mutation (genetics), Nervous system diseases, Vesicular Transport Proteins (genetics), Voxel, brain atrophy, neuroacanthocytosis, voxel‐based morphometry.
- MESH :
- chemical , genetics : Vesicular Transport Proteins.
- diagnosis : Chorea.
- genetics : Chorea, Mutation.
- pathology : Brain, Caudate Nucleus, Corpus Striatum.
- physiology : Dominance, Cerebral.
- Adult, Atrophy, Chromosome Aberrations, Female, Genes, Recessive, Humans, Image Processing, Computer-Assisted, Magnetic Resonance Imaging, Male, Mathematical Computing.
Abstract
Chorea–acanthocytosis (ChAc; OMIM 200150) is a rare autosomal recessive disease with dysfunction of the erythrocyte membrane, presenting with acanthocytes and neurological manifestations characterized by progressive hyperkinesias (chorea, dystonia) and neuropsychological impairment. Damage to the basal ganglia was described previously in neuropathological and neuroimaging investigations. We analyzed high‐resolution MRI of six ChAc patients with mutations in the VPS13A gene (median age, 37 years; mean time since clinical onset, 13 years) with respect to regional atrophy by use of the observer‐independent technique of voxel‐based morphometry in comparison to 15 age‐matched healthy controls. Additionally, global brain atrophy was determined using the standardized brain parenchymal fraction (BPF) method. A robust regional reduction of gray matter density was observed in the head of the caudate nucleus bilaterally and was nearly symmetrical (P < 0.001, corrected for small volumes). No additional gray matter changes were found. In the BPF analysis, there was no significant global brain atrophy. The predilection of atrophy in the head of the caudate nucleus, as suggested by our results, argues for a particular vulnerability of this part of the striatum in ChAc and is in agreement with pronounced neuropsychological disturbances that are thought to rely on these regions. © 2006 Movement Disorder Society
Url:
DOI: 10.1002/mds.21046
Affiliations:
- Allemagne, États-Unis
- Bade-Wurtemberg, Bavière, District de Haute-Bavière, District de Tübingen, Maryland
- Munich, Ulm
- Université d'Ulm
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Le document en format XML
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Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2006-10">2006-10</date><biblScope unit="vol">21</biblScope><biblScope unit="issue">10</biblScope><biblScope unit="page" from="1728">1728</biblScope><biblScope unit="page" to="1731">1731</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">0BD7F9F7EE96CEAC525A8588F2F47DF263F52AB1</idno><idno type="DOI">10.1002/mds.21046</idno><idno type="ArticleID">MDS21046</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Acanthocytosis</term><term>Adult</term><term>Atrophy</term><term>Brain (pathology)</term><term>Caudate Nucleus (pathology)</term><term>Caudate nucleus</term><term>Chorea</term><term>Chorea (diagnosis)</term><term>Chorea (genetics)</term><term>Chromosome Aberrations</term><term>Corpus Striatum (pathology)</term><term>Dominance, Cerebral (physiology)</term><term>Female</term><term>Genes, Recessive</term><term>Head</term><term>Humans</term><term>Image Processing, Computer-Assisted</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Mathematical Computing</term><term>Morphometry</term><term>Mutation (genetics)</term><term>Nervous system diseases</term><term>Vesicular Transport Proteins (genetics)</term><term>Voxel</term><term>brain atrophy</term><term>neuroacanthocytosis</term><term>voxel‐based morphometry</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Vesicular Transport Proteins</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Chorea</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chorea</term><term>Mutation</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Brain</term><term>Caudate Nucleus</term><term>Corpus Striatum</term></keywords><keywords scheme="MESH" qualifier="physiology" xml:lang="en"><term>Dominance, Cerebral</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Atrophy</term><term>Chromosome Aberrations</term><term>Female</term><term>Genes, Recessive</term><term>Humans</term><term>Image Processing, Computer-Assisted</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Mathematical Computing</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Acanthocytose</term><term>Atrophie</term><term>Chorée syndrome</term><term>Morphométrie</term><term>Noyau caudé</term><term>Système nerveux pathologie</term><term>Tête</term><term>Voxel</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Chorea–acanthocytosis (ChAc; OMIM 200150) is a rare autosomal recessive disease with dysfunction of the erythrocyte membrane, presenting with acanthocytes and neurological manifestations characterized by progressive hyperkinesias (chorea, dystonia) and neuropsychological impairment. Damage to the basal ganglia was described previously in neuropathological and neuroimaging investigations. We analyzed high‐resolution MRI of six ChAc patients with mutations in the VPS13A gene (median age, 37 years; mean time since clinical onset, 13 years) with respect to regional atrophy by use of the observer‐independent technique of voxel‐based morphometry in comparison to 15 age‐matched healthy controls. Additionally, global brain atrophy was determined using the standardized brain parenchymal fraction (BPF) method. A robust regional reduction of gray matter density was observed in the head of the caudate nucleus bilaterally and was nearly symmetrical (P < 0.001, corrected for small volumes). No additional gray matter changes were found. In the BPF analysis, there was no significant global brain atrophy. The predilection of atrophy in the head of the caudate nucleus, as suggested by our results, argues for a particular vulnerability of this part of the striatum in ChAc and is in agreement with pronounced neuropsychological disturbances that are thought to rely on these regions. © 2006 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>États-Unis</li></country><region><li>Bade-Wurtemberg</li><li>Bavière</li><li>District de Haute-Bavière</li><li>District de Tübingen</li><li>Maryland</li></region><settlement><li>Munich</li><li>Ulm</li></settlement><orgName><li>Université d'Ulm</li></orgName></list><tree><country name="Allemagne"><region name="Bade-Wurtemberg"><name sortKey="Henkel, Karsten" sort="Henkel, Karsten" uniqKey="Henkel K" first="Karsten" last="Henkel">Karsten Henkel</name></region><name sortKey="Danek, Adrian" sort="Danek, Adrian" uniqKey="Danek A" first="Adrian" last="Danek">Adrian Danek</name><name sortKey="Kassubek, Jan" sort="Kassubek, Jan" uniqKey="Kassubek J" first="Jan" last="Kassubek">Jan Kassubek</name></country><country name="États-Unis"><region name="Maryland"><name sortKey="Danek, Adrian" sort="Danek, Adrian" uniqKey="Danek A" first="Adrian" last="Danek">Adrian Danek</name></region><name sortKey="Butman, John" sort="Butman, John" uniqKey="Butman J" first="John" last="Butman">John Butman</name><name sortKey="Grafman, Jordan" sort="Grafman, Jordan" uniqKey="Grafman J" first="Jordan" last="Grafman">Jordan Grafman</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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