Head of the caudate nucleus is most vulnerable in chorea–acanthocytosis: A voxel‐based morphometry study
Identifieur interne : 004727 ( Main/Merge ); précédent : 004726; suivant : 004728Head 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.
English descriptors
- KwdEn :
- Adult, Atrophy, Brain (pathology), Caudate Nucleus (pathology), Chorea (diagnosis), Chorea (genetics), Chromosome Aberrations, Corpus Striatum (pathology), Dominance, Cerebral (physiology), Female, Genes, Recessive, Humans, Image Processing, Computer-Assisted, Magnetic Resonance Imaging, Male, Mathematical Computing, Mutation (genetics), Vesicular Transport Proteins (genetics), 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
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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>Adult</term><term>Atrophy</term><term>Brain (pathology)</term><term>Caudate Nucleus (pathology)</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>Humans</term><term>Image Processing, Computer-Assisted</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Mathematical Computing</term><term>Mutation (genetics)</term><term>Vesicular Transport Proteins (genetics)</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></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><double doi="10.1002/mds.21046"><ISTEX><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Head of the caudate nucleus is most vulnerable in chorea–acanthocytosis: A voxel‐based morphometry study</title><author><name sortKey="Henkel, Karsten" sort="Henkel, Karsten" uniqKey="Henkel K" first="Karsten" last="Henkel">Karsten Henkel</name></author><author><name sortKey="Danek, Adrian" sort="Danek, Adrian" uniqKey="Danek A" first="Adrian" last="Danek">Adrian Danek</name></author><author><name sortKey="Grafman, Jordan" sort="Grafman, Jordan" uniqKey="Grafman J" first="Jordan" last="Grafman">Jordan Grafman</name></author><author><name sortKey="Butman, John" sort="Butman, John" uniqKey="Butman J" first="John" last="Butman">John Butman</name></author><author><name sortKey="Kassubek, Jan" sort="Kassubek, Jan" uniqKey="Kassubek J" first="Jan" last="Kassubek">Jan Kassubek</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:0BD7F9F7EE96CEAC525A8588F2F47DF263F52AB1</idno><date when="2006" year="2006">2006</date><idno type="doi">10.1002/mds.21046</idno><idno type="url">https://api.istex.fr/document/0BD7F9F7EE96CEAC525A8588F2F47DF263F52AB1/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">002A08</idno><idno type="wicri:Area/Istex/Curation">002A08</idno><idno type="wicri:Area/Istex/Checkpoint">001E73</idno><idno type="wicri:doubleKey">0885-3185:2006:Henkel K:head:of:the</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Head of the caudate nucleus is most vulnerable in chorea–acanthocytosis: A voxel‐based morphometry study</title><author><name sortKey="Henkel, Karsten" sort="Henkel, Karsten" uniqKey="Henkel K" first="Karsten" last="Henkel">Karsten Henkel</name><affiliation wicri:level="4"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Ulm, Ulm</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Ulm</settlement></placeName><orgName type="university">Université d'Ulm</orgName></affiliation></author><author><name sortKey="Danek, Adrian" sort="Danek, Adrian" uniqKey="Danek A" first="Adrian" last="Danek">Adrian Danek</name><affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, Ludwig‐Maximilians‐Universität Munich, Munich</wicri:regionArea><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName></affiliation><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Cognitive Neuroscience Section, National Institute of Neurological Disorders and Stroke, Bethesda, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Grafman, Jordan" sort="Grafman, Jordan" uniqKey="Grafman J" first="Jordan" last="Grafman">Jordan Grafman</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Cognitive Neuroscience Section, National Institute of Neurological Disorders and Stroke, Bethesda, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Butman, John" sort="Butman, John" uniqKey="Butman J" first="John" last="Butman">John Butman</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Clinical Center, National Institutes of Health, Bethesda, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Kassubek, Jan" sort="Kassubek, Jan" uniqKey="Kassubek J" first="Jan" last="Kassubek">Jan Kassubek</name><affiliation wicri:level="4"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Ulm, Ulm</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Ulm</settlement></placeName><orgName type="university">Université d'Ulm</orgName></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. 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>brain atrophy</term><term>neuroacanthocytosis</term><term>voxel‐based morphometry</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></ISTEX><PubMed><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Head of the caudate nucleus is most vulnerable in chorea-acanthocytosis: a voxel-based morphometry study.</title><author><name sortKey="Henkel, Karsten" sort="Henkel, Karsten" uniqKey="Henkel K" first="Karsten" last="Henkel">Karsten Henkel</name><affiliation wicri:level="4"><nlm:affiliation>Department of Neurology, University of Ulm, Ulm, Germany. karsten.henkel@gmx.de</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Ulm, Ulm</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Ulm</settlement></placeName><orgName type="university">Université d'Ulm</orgName></affiliation></author><author><name sortKey="Danek, Adrian" sort="Danek, Adrian" uniqKey="Danek A" first="Adrian" last="Danek">Adrian Danek</name></author><author><name sortKey="Grafman, Jordan" sort="Grafman, Jordan" uniqKey="Grafman J" first="Jordan" last="Grafman">Jordan Grafman</name></author><author><name sortKey="Butman, John" sort="Butman, John" uniqKey="Butman J" first="John" last="Butman">John Butman</name></author><author><name sortKey="Kassubek, Jan" sort="Kassubek, Jan" uniqKey="Kassubek J" first="Jan" last="Kassubek">Jan Kassubek</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2006">2006</date><idno type="doi">10.1002/mds.21046</idno><idno type="RBID">pubmed:16874760</idno><idno type="pmid">16874760</idno><idno type="wicri:Area/PubMed/Corpus">002B35</idno><idno 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nuts="2">District de Tübingen</region><settlement type="city">Ulm</settlement></placeName><orgName type="university">Université d'Ulm</orgName></affiliation></author><author><name sortKey="Danek, Adrian" sort="Danek, Adrian" uniqKey="Danek A" first="Adrian" last="Danek">Adrian Danek</name></author><author><name sortKey="Grafman, Jordan" sort="Grafman, Jordan" uniqKey="Grafman J" first="Jordan" last="Grafman">Jordan Grafman</name></author><author><name sortKey="Butman, John" sort="Butman, John" uniqKey="Butman J" first="John" last="Butman">John Butman</name></author><author><name sortKey="Kassubek, Jan" sort="Kassubek, Jan" uniqKey="Kassubek J" first="Jan" last="Kassubek">Jan Kassubek</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2006" type="published">2006</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Atrophy</term><term>Brain (pathology)</term><term>Caudate Nucleus (pathology)</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>Humans</term><term>Image Processing, Computer-Assisted</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Mathematical Computing</term><term>Mutation (genetics)</term><term>Vesicular Transport Proteins (genetics)</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></textClass></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.</div></front></TEI></PubMed></double></record>Pour manipuler ce document sous Unix (Dilib)
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