MovDisordV3, PascalFrancis, Curation, bibRecord, 001374

Head of the caudate nucleus is most vulnerable in chorea-acanthocytosis : A voxel-based morphometry study

Identifieur interne : 001374 ( PascalFrancis/Curation ); précédent : 001373; suivant : 001375

Head 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.

RBID : Pascal:06-0538595

Descripteurs français

Pascal (Inist)
- Système nerveux pathologie, Chorée syndrome, Acanthocytose, Atrophie, Tête, Noyau caudé, Voxel, Morphométrie.

English descriptors

KwdEn :
- Acanthocytosis, Atrophy, Caudate nucleus, Chorea, Head, Morphometry, Nervous system diseases, Voxel.

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.

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A08	`01`	`1`	`ENG`	`@1 Head of the caudate nucleus is most vulnerable in chorea-acanthocytosis : A voxel-based morphometry study`
A11	`01`	`1`		`@1 HENKEL (Karsten)`
A11	`02`	`1`		`@1 DANEK (Adrian)`
A11	`03`	`1`		`@1 GRAFMAN (Jordan)`
A11	`04`	`1`		`@1 BUTMAN (John)`
A11	`05`	`1`		`@1 KASSUBEK (Jan)`
A14	`01`			`@1 Department of Neurology, University of Ulm @2 Ulm @3 DEU @Z 1 aut. @Z 5 aut.`
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C01	`01`		`ENG`	@0 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.
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C03	`02`	`X`	`SPA`	`@0 Corea síndrome @5 02`
C03	`03`	`X`	`FRE`	`@0 Acanthocytose @5 03`
C03	`03`	`X`	`ENG`	`@0 Acanthocytosis @5 03`
C03	`03`	`X`	`SPA`	`@0 Acantocitosis @5 03`
C03	`04`	`X`	`FRE`	`@0 Atrophie @5 04`
C03	`04`	`X`	`ENG`	`@0 Atrophy @5 04`
C03	`04`	`X`	`SPA`	`@0 Atrofia @5 04`
C03	`05`	`X`	`FRE`	`@0 Tête @5 09`
C03	`05`	`X`	`ENG`	`@0 Head @5 09`
C03	`05`	`X`	`SPA`	`@0 Cabeza @5 09`
C03	`06`	`X`	`FRE`	`@0 Noyau caudé @5 10`
C03	`06`	`X`	`ENG`	`@0 Caudate nucleus @5 10`
C03	`06`	`X`	`SPA`	`@0 Núcleo caudado @5 10`
C03	`07`	`X`	`FRE`	`@0 Voxel @5 11`
C03	`07`	`X`	`ENG`	`@0 Voxel @5 11`
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C03	`08`	`X`	`FRE`	`@0 Morphométrie @5 12`
C03	`08`	`X`	`ENG`	`@0 Morphometry @5 12`
C03	`08`	`X`	`SPA`	`@0 Morfometría @5 12`
C07	`01`	`X`	`FRE`	`@0 Encéphale pathologie @5 37`
C07	`01`	`X`	`ENG`	`@0 Cerebral disorder @5 37`
C07	`01`	`X`	`SPA`	`@0 Encéfalo patología @5 37`
C07	`02`	`X`	`FRE`	`@0 Noyau gris central @5 38`
C07	`02`	`X`	`ENG`	`@0 Basal ganglion @5 38`
C07	`02`	`X`	`SPA`	`@0 Núcleo basal @5 38`
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C07	`04`	`X`	`FRE`	`@0 Extrapyramidal syndrome @5 40`
C07	`04`	`X`	`ENG`	`@0 Extrapyramidal syndrome @5 40`
C07	`04`	`X`	`SPA`	`@0 Extrapiramidal síndrome @5 40`
C07	`05`	`X`	`FRE`	`@0 Mouvement involontaire @5 41`
C07	`05`	`X`	`ENG`	`@0 Involuntary movement @5 41`
C07	`05`	`X`	`SPA`	`@0 Movimiento involuntario @5 41`
C07	`06`	`X`	`FRE`	`@0 Système nerveux central pathologie @5 42`
C07	`06`	`X`	`ENG`	`@0 Central nervous system disease @5 42`
C07	`06`	`X`	`SPA`	`@0 Sistema nervosio central patología @5 42`
C07	`07`	`X`	`FRE`	`@0 Trouble neurologique @5 43`
C07	`07`	`X`	`ENG`	`@0 Neurological disorder @5 43`
C07	`07`	`X`	`SPA`	`@0 Trastorno neurológico @5 43`
C07	`08`	`X`	`FRE`	`@0 Anémie hémolytique @5 44`
C07	`08`	`X`	`ENG`	`@0 Hemolytic anemia @5 44`
C07	`08`	`X`	`SPA`	`@0 Anemia hemolítica @5 44`
C07	`09`	`X`	`FRE`	`@0 Anomalie membrane hématie @5 45`
C07	`09`	`X`	`ENG`	`@0 Erythrocytic membrane disease @5 45`
C07	`09`	`X`	`SPA`	`@0 Anomalía membrana hematía @5 45`
C07	`10`	`X`	`FRE`	`@0 Hémopathie @5 46`
C07	`10`	`X`	`ENG`	`@0 Hemopathy @5 46`
C07	`10`	`X`	`SPA`	`@0 Hemopatía @5 46`
N21				`@1 353`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

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Pascal:06-0538595

Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Head of the caudate nucleus is most vulnerable in chorea-acanthocytosis : A voxel-based morphometry study</title>
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<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>
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<fC01 i1="01" l="ENG"><s0>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.</s0>
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<s5>03</s5>
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<s5>04</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Tête</s0>
<s5>09</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Head</s0>
<s5>09</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Cabeza</s0>
<s5>09</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE"><s0>Noyau caudé</s0>
<s5>10</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG"><s0>Caudate nucleus</s0>
<s5>10</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA"><s0>Núcleo caudado</s0>
<s5>10</s5>
</fC03>
<fC03 i1="07" i2="X" l="FRE"><s0>Voxel</s0>
<s5>11</s5>
</fC03>
<fC03 i1="07" i2="X" l="ENG"><s0>Voxel</s0>
<s5>11</s5>
</fC03>
<fC03 i1="07" i2="X" l="SPA"><s0>Voxel</s0>
<s5>11</s5>
</fC03>
<fC03 i1="08" i2="X" l="FRE"><s0>Morphométrie</s0>
<s5>12</s5>
</fC03>
<fC03 i1="08" i2="X" l="ENG"><s0>Morphometry</s0>
<s5>12</s5>
</fC03>
<fC03 i1="08" i2="X" l="SPA"><s0>Morfometría</s0>
<s5>12</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Encéphale pathologie</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Cerebral disorder</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Encéfalo patología</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Noyau gris central</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Basal ganglion</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Núcleo basal</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Système nerveux central</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Central nervous system</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Sistema nervioso central</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Extrapyramidal syndrome</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0>
<s5>40</s5>
</fC07>
<fC07 i1="05" i2="X" l="FRE"><s0>Mouvement involontaire</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG"><s0>Involuntary movement</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA"><s0>Movimiento involuntario</s0>
<s5>41</s5>
</fC07>
<fC07 i1="06" i2="X" l="FRE"><s0>Système nerveux central pathologie</s0>
<s5>42</s5>
</fC07>
<fC07 i1="06" i2="X" l="ENG"><s0>Central nervous system disease</s0>
<s5>42</s5>
</fC07>
<fC07 i1="06" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0>
<s5>42</s5>
</fC07>
<fC07 i1="07" i2="X" l="FRE"><s0>Trouble neurologique</s0>
<s5>43</s5>
</fC07>
<fC07 i1="07" i2="X" l="ENG"><s0>Neurological disorder</s0>
<s5>43</s5>
</fC07>
<fC07 i1="07" i2="X" l="SPA"><s0>Trastorno neurológico</s0>
<s5>43</s5>
</fC07>
<fC07 i1="08" i2="X" l="FRE"><s0>Anémie hémolytique</s0>
<s5>44</s5>
</fC07>
<fC07 i1="08" i2="X" l="ENG"><s0>Hemolytic anemia</s0>
<s5>44</s5>
</fC07>
<fC07 i1="08" i2="X" l="SPA"><s0>Anemia hemolítica</s0>
<s5>44</s5>
</fC07>
<fC07 i1="09" i2="X" l="FRE"><s0>Anomalie membrane hématie</s0>
<s5>45</s5>
</fC07>
<fC07 i1="09" i2="X" l="ENG"><s0>Erythrocytic membrane disease</s0>
<s5>45</s5>
</fC07>
<fC07 i1="09" i2="X" l="SPA"><s0>Anomalía membrana hematía</s0>
<s5>45</s5>
</fC07>
<fC07 i1="10" i2="X" l="FRE"><s0>Hémopathie</s0>
<s5>46</s5>
</fC07>
<fC07 i1="10" i2="X" l="ENG"><s0>Hemopathy</s0>
<s5>46</s5>
</fC07>
<fC07 i1="10" i2="X" l="SPA"><s0>Hemopatía</s0>
<s5>46</s5>
</fC07>
<fN21><s1>353</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
</inist>
</record>

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	Movement Disorders (revue)
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Movement Disorders (revue)

Head of the caudate nucleus is most vulnerable in chorea-acanthocytosis : A voxel-based morphometry study

Head of the caudate nucleus is most vulnerable in chorea-acanthocytosis : A voxel-based morphometry study

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