Specific Pattern of Early White-Matter Changes in Pure Hereditary Spastic Paraplegia
Identifieur interne : 000830 ( PascalFrancis/Checkpoint ); précédent : 000829; suivant : 000831Specific Pattern of Early White-Matter Changes in Pure Hereditary Spastic Paraplegia
Auteurs : Thomas Duning [Allemagne] ; Tobias Warnecke [Allemagne] ; Anja Schirmacher [Allemagne] ; Hagen Schiffbauer [Allemagne] ; Hubertus Lohmann [Allemagne] ; Siawoosh Mohammadi [Allemagne] ; Peter Young [Allemagne] ; Michael Deppe [Allemagne]Source :
- Movement disorders [ 0885-3185 ] ; 2010.
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Abstract
Hereditary spastic paraplegias (HSP) are genetically and clinically heterogeneous neurodegenerative disorders. Most MR studies on HSP include very heterogeneous samples of patients, and findings were inconsistent. Here, we examined six patients with pure HSP and SPG4 mutations by clinical evaluation, detailed neuropsychological testing, and neuroimaging analyses, including conventional MRI, diffusion tensor imaging (DTI), and brain volumetry. Differences of voxel-wise statistics and ROI-based analysis of DTI data between patients and 32 healthy volunteers were evaluated. Although conventional MRI and brain volumetry were normal, DTI revealed widespread disturbance of white matter (WM) integrity (P < 0.001), mainly affecting the corticospinal tract. With longer disease duration, frontal regions were also involved. The WM changes were also present in subclinical subjects harbouring the pathogenic mutation. These subtle WM abnormalities have functional relevance because they correlated with clinical symptoms. Thus, early alterations of nerve fibres, which can be detected by DTI, might serve as a biological marker in HSP, in particular with respect to future longitudinal studies.
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aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region><region type="district" nuts="2">District de Münster</region><settlement type="city">Münster</settlement></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">10-0446333</idno><date when="2010">2010</date><idno type="stanalyst">PASCAL 10-0446333 INIST</idno><idno type="RBID">Pascal:10-0446333</idno><idno type="wicri:Area/PascalFrancis/Corpus">000908</idno><idno type="wicri:Area/PascalFrancis/Curation">002411</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">000830</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Specific Pattern of Early White-Matter Changes in Pure Hereditary Spastic Paraplegia</title><author><name sortKey="Duning, Thomas" sort="Duning, Thomas" uniqKey="Duning T" first="Thomas" last="Duning">Thomas Duning</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology, University Hospital of Münster</s1><s2>Münster</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region><region type="district" nuts="2">District de Münster</region><settlement type="city">Münster</settlement></placeName></affiliation></author><author><name sortKey="Warnecke, Tobias" sort="Warnecke, Tobias" uniqKey="Warnecke T" first="Tobias" last="Warnecke">Tobias Warnecke</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology, University Hospital of Münster</s1><s2>Münster</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region><region type="district" nuts="2">District de Münster</region><settlement type="city">Münster</settlement></placeName></affiliation></author><author><name sortKey="Schirmacher, Anja" sort="Schirmacher, Anja" uniqKey="Schirmacher A" first="Anja" last="Schirmacher">Anja Schirmacher</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology, University Hospital of Münster</s1><s2>Münster</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region><region type="district" nuts="2">District de Münster</region><settlement type="city">Münster</settlement></placeName></affiliation></author><author><name sortKey="Schiffbauer, Hagen" sort="Schiffbauer, Hagen" uniqKey="Schiffbauer H" first="Hagen" last="Schiffbauer">Hagen Schiffbauer</name><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Department of Clinical Radiology, University Hospital of Münster</s1><s2>Münster</s2><s3>DEU</s3><sZ>4 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region><region type="district" nuts="2">District de Münster</region><settlement type="city">Münster</settlement></placeName></affiliation></author><author><name sortKey="Lohmann, Hubertus" sort="Lohmann, Hubertus" uniqKey="Lohmann H" first="Hubertus" last="Lohmann">Hubertus Lohmann</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology, University Hospital of Münster</s1><s2>Münster</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region><region type="district" nuts="2">District de Münster</region><settlement type="city">Münster</settlement></placeName></affiliation></author><author><name sortKey="Mohammadi, Siawoosh" sort="Mohammadi, Siawoosh" uniqKey="Mohammadi S" first="Siawoosh" last="Mohammadi">Siawoosh Mohammadi</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology, University Hospital of Münster</s1><s2>Münster</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region><region type="district" nuts="2">District de Münster</region><settlement type="city">Münster</settlement></placeName></affiliation></author><author><name sortKey="Young, Peter" sort="Young, Peter" uniqKey="Young P" first="Peter" last="Young">Peter Young</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology, University Hospital of Münster</s1><s2>Münster</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region><region type="district" nuts="2">District de Münster</region><settlement type="city">Münster</settlement></placeName></affiliation></author><author><name sortKey="Deppe, Michael" sort="Deppe, Michael" uniqKey="Deppe M" first="Michael" last="Deppe">Michael Deppe</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology, University Hospital of Münster</s1><s2>Münster</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region><region type="district" nuts="2">District de Münster</region><settlement type="city">Münster</settlement></placeName></affiliation></author></analytic><series><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno><imprint><date when="2010">2010</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Diffusion tensor imaging</term><term>Hereditary spastic paraplegia</term><term>Nervous system diseases</term><term>White matter</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Paraplégie spasmodique héréditaire de Strümpell-Lorrain</term><term>Pathologie du système nerveux</term><term>Substance blanche</term><term>Imagerie du tenseur de diffusion</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Hereditary spastic paraplegias (HSP) are genetically and clinically heterogeneous neurodegenerative disorders. Most MR studies on HSP include very heterogeneous samples of patients, and findings were inconsistent. Here, we examined six patients with pure HSP and SPG4 mutations by clinical evaluation, detailed neuropsychological testing, and neuroimaging analyses, including conventional MRI, diffusion tensor imaging (DTI), and brain volumetry. Differences of voxel-wise statistics and ROI-based analysis of DTI data between patients and 32 healthy volunteers were evaluated. Although conventional MRI and brain volumetry were normal, DTI revealed widespread disturbance of white matter (WM) integrity (P < 0.001), mainly affecting the corticospinal tract. With longer disease duration, frontal regions were also involved. The WM changes were also present in subclinical subjects harbouring the pathogenic mutation. These subtle WM abnormalities have functional relevance because they correlated with clinical symptoms. Thus, early alterations of nerve fibres, which can be detected by DTI, might serve as a biological marker in HSP, in particular with respect to future longitudinal studies.</div></front></TEI><inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0885-3185</s0></fA01><fA03 i2="1"><s0>Mov. disord.</s0></fA03><fA05><s2>25</s2></fA05><fA06><s2>12</s2></fA06><fA08 i1="01" i2="1" l="ENG"><s1>Specific Pattern of Early White-Matter Changes in Pure Hereditary Spastic Paraplegia</s1></fA08><fA11 i1="01" i2="1"><s1>DUNING (Thomas)</s1></fA11><fA11 i1="02" i2="1"><s1>WARNECKE (Tobias)</s1></fA11><fA11 i1="03" i2="1"><s1>SCHIRMACHER (Anja)</s1></fA11><fA11 i1="04" i2="1"><s1>SCHIFFBAUER (Hagen)</s1></fA11><fA11 i1="05" i2="1"><s1>LOHMANN (Hubertus)</s1></fA11><fA11 i1="06" i2="1"><s1>MOHAMMADI (Siawoosh)</s1></fA11><fA11 i1="07" i2="1"><s1>YOUNG (Peter)</s1></fA11><fA11 i1="08" i2="1"><s1>DEPPE (Michael)</s1></fA11><fA14 i1="01"><s1>Department of Neurology, University Hospital of Münster</s1><s2>Münster</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ></fA14><fA14 i1="02"><s1>Department of Clinical Radiology, University Hospital of Münster</s1><s2>Münster</s2><s3>DEU</s3><sZ>4 aut.</sZ></fA14><fA20><s1>1986-1992</s1></fA20><fA21><s1>2010</s1></fA21><fA23 i1="01"><s0>ENG</s0></fA23><fA43 i1="01"><s1>INIST</s1><s2>20953</s2><s5>354000194841700320</s5></fA43><fA44><s0>0000</s0><s1>© 2010 INIST-CNRS. All rights reserved.</s1></fA44><fA45><s0>18 ref.</s0></fA45><fA47 i1="01" i2="1"><s0>10-0446333</s0></fA47><fA60><s1>P</s1><s3>CC</s3></fA60><fA61><s0>A</s0></fA61><fA64 i1="01" i2="1"><s0>Movement disorders</s0></fA64><fA66 i1="01"><s0>USA</s0></fA66><fC01 i1="01" l="ENG"><s0>Hereditary spastic paraplegias (HSP) are genetically and clinically heterogeneous neurodegenerative disorders. Most MR studies on HSP include very heterogeneous samples of patients, and findings were inconsistent. Here, we examined six patients with pure HSP and SPG4 mutations by clinical evaluation, detailed neuropsychological testing, and neuroimaging analyses, including conventional MRI, diffusion tensor imaging (DTI), and brain volumetry. Differences of voxel-wise statistics and ROI-based analysis of DTI data between patients and 32 healthy volunteers were evaluated. Although conventional MRI and brain volumetry were normal, DTI revealed widespread disturbance of white matter (WM) integrity (P < 0.001), mainly affecting the corticospinal tract. With longer disease duration, frontal regions were also involved. The WM changes were also present in subclinical subjects harbouring the pathogenic mutation. These subtle WM abnormalities have functional relevance because they correlated with clinical symptoms. Thus, early alterations of nerve fibres, which can be detected by DTI, might serve as a biological marker in HSP, in particular with respect to future longitudinal studies.</s0></fC01><fC02 i1="01" i2="X"><s0>002B17</s0></fC02><fC02 i1="02" i2="X"><s0>002B17F</s0></fC02><fC03 i1="01" i2="X" l="FRE"><s0>Paraplégie spasmodique héréditaire de Strümpell-Lorrain</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="ENG"><s0>Hereditary spastic paraplegia</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="SPA"><s0>Paraplejía espasmódica hereditaria Strümpell-Lorrain</s0><s5>01</s5></fC03><fC03 i1="02" i2="X" l="FRE"><s0>Pathologie du système nerveux</s0><s5>02</s5></fC03><fC03 i1="02" i2="X" l="ENG"><s0>Nervous system diseases</s0><s5>02</s5></fC03><fC03 i1="02" i2="X" l="SPA"><s0>Sistema nervioso patología</s0><s5>02</s5></fC03><fC03 i1="03" i2="X" l="FRE"><s0>Substance blanche</s0><s5>09</s5></fC03><fC03 i1="03" i2="X" l="ENG"><s0>White matter</s0><s5>09</s5></fC03><fC03 i1="03" i2="X" l="SPA"><s0>Substancia blanca</s0><s5>09</s5></fC03><fC03 i1="04" i2="X" l="FRE"><s0>Imagerie du tenseur de diffusion</s0><s5>10</s5></fC03><fC03 i1="04" i2="X" l="ENG"><s0>Diffusion tensor imaging</s0><s5>10</s5></fC03><fC03 i1="04" i2="X" l="SPA"><s0>Imágen de tensor de difusión</s0><s5>10</s5></fC03><fC07 i1="01" i2="X" l="FRE"><s0>Pathologie de l'encéphale</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>Maladie dégénérative</s0><s5>38</s5></fC07><fC07 i1="02" i2="X" l="ENG"><s0>Degenerative disease</s0><s5>38</s5></fC07><fC07 i1="02" i2="X" l="SPA"><s0>Enfermedad degenerativa</s0><s5>38</s5></fC07><fC07 i1="03" i2="X" l="FRE"><s0>Maladie héréditaire</s0><s5>39</s5></fC07><fC07 i1="03" i2="X" l="ENG"><s0>Genetic disease</s0><s5>39</s5></fC07><fC07 i1="03" i2="X" l="SPA"><s0>Enfermedad hereditaria</s0><s5>39</s5></fC07><fC07 i1="04" i2="X" l="FRE"><s0>Pathologie de la moelle épinière</s0><s5>40</s5></fC07><fC07 i1="04" i2="X" l="ENG"><s0>Spinal cord disease</s0><s5>40</s5></fC07><fC07 i1="04" i2="X" l="SPA"><s0>Médula espinal patología</s0><s5>40</s5></fC07><fC07 i1="05" i2="X" l="FRE"><s0>Pathologie du système nerveux central</s0><s5>41</s5></fC07><fC07 i1="05" i2="X" l="ENG"><s0>Central nervous system disease</s0><s5>41</s5></fC07><fC07 i1="05" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0><s5>41</s5></fC07><fN21><s1>291</s1></fN21><fN44 i1="01"><s1>OTO</s1></fN44><fN82><s1>OTO</s1></fN82></pA></standard></inist><affiliations><list><country><li>Allemagne</li></country><region><li>District de Münster</li><li>Rhénanie-du-Nord-Westphalie</li></region><settlement><li>Münster</li></settlement></list><tree><country name="Allemagne"><region name="Rhénanie-du-Nord-Westphalie"><name sortKey="Duning, Thomas" sort="Duning, Thomas" uniqKey="Duning T" first="Thomas" last="Duning">Thomas Duning</name></region><name sortKey="Deppe, Michael" sort="Deppe, Michael" uniqKey="Deppe M" first="Michael" last="Deppe">Michael Deppe</name><name sortKey="Lohmann, Hubertus" sort="Lohmann, Hubertus" uniqKey="Lohmann H" first="Hubertus" last="Lohmann">Hubertus Lohmann</name><name sortKey="Mohammadi, Siawoosh" sort="Mohammadi, Siawoosh" uniqKey="Mohammadi S" first="Siawoosh" last="Mohammadi">Siawoosh Mohammadi</name><name sortKey="Schiffbauer, Hagen" sort="Schiffbauer, Hagen" uniqKey="Schiffbauer H" first="Hagen" last="Schiffbauer">Hagen Schiffbauer</name><name sortKey="Schirmacher, Anja" sort="Schirmacher, Anja" uniqKey="Schirmacher A" first="Anja" last="Schirmacher">Anja Schirmacher</name><name sortKey="Warnecke, Tobias" sort="Warnecke, Tobias" uniqKey="Warnecke T" first="Tobias" last="Warnecke">Tobias Warnecke</name><name sortKey="Young, Peter" sort="Young, Peter" uniqKey="Young P" first="Peter" last="Young">Peter Young</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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