Specific pattern of early white‐matter changes in pure hereditary spastic paraplegia
Identifieur interne : 001E35 ( Main/Merge ); précédent : 001E34; suivant : 001E36Specific 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 ] ; 2010-09-15.
English descriptors
- KwdEn :
- Adult, Aged, Brain (pathology), Female, Humans, Image Processing, Computer-Assisted, Magnetic Resonance Imaging, Male, Middle Aged, Nerve Fibers, Myelinated (pathology), Neuropsychological Tests, Pyramidal Tracts (pathology), SPG4, Spastic Paraplegia, Hereditary (pathology), diffusion tensor imaging, hereditary spastic paraplegia, white‐matter changes.
- MESH :
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. © 2010 Movement Disorder Society
Url:
DOI: 10.1002/mds.23211
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<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. © 2010 Movement Disorder Society</div>
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<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. © 2010 Movement Disorder Society</div>
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<author><name sortKey="Young, Peter" sort="Young, Peter" uniqKey="Young P" first="Peter" last="Young">Peter Young</name>
</author>
<author><name sortKey="Deppe, Michael" sort="Deppe, Michael" uniqKey="Deppe M" first="Michael" last="Deppe">Michael Deppe</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="2010">2010</date>
<idno type="doi">10.1002/mds.23211</idno>
<idno type="RBID">pubmed:20669295</idno>
<idno type="pmid">20669295</idno>
<idno type="wicri:Area/PubMed/Corpus">001676</idno>
<idno type="wicri:Area/PubMed/Curation">001676</idno>
<idno type="wicri:Area/PubMed/Checkpoint">001605</idno>
<idno type="wicri:Area/Ncbi/Merge">002D41</idno>
<idno type="wicri:Area/Ncbi/Curation">002D41</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">002D41</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en">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"><nlm:affiliation>Department of Neurology, University Hospital of Münster, Münster, Germany. duningt@uni-muenster.de</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neurology, University Hospital of Münster, Münster</wicri:regionArea>
<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>
</author>
<author><name sortKey="Schirmacher, Anja" sort="Schirmacher, Anja" uniqKey="Schirmacher A" first="Anja" last="Schirmacher">Anja Schirmacher</name>
</author>
<author><name sortKey="Schiffbauer, Hagen" sort="Schiffbauer, Hagen" uniqKey="Schiffbauer H" first="Hagen" last="Schiffbauer">Hagen Schiffbauer</name>
</author>
<author><name sortKey="Lohmann, Hubertus" sort="Lohmann, Hubertus" uniqKey="Lohmann H" first="Hubertus" last="Lohmann">Hubertus Lohmann</name>
</author>
<author><name sortKey="Mohammadi, Siawoosh" sort="Mohammadi, Siawoosh" uniqKey="Mohammadi S" first="Siawoosh" last="Mohammadi">Siawoosh Mohammadi</name>
</author>
<author><name sortKey="Young, Peter" sort="Young, Peter" uniqKey="Young P" first="Peter" last="Young">Peter Young</name>
</author>
<author><name sortKey="Deppe, Michael" sort="Deppe, Michael" uniqKey="Deppe M" first="Michael" last="Deppe">Michael Deppe</name>
</author>
</analytic>
<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="eISSN">1531-8257</idno>
<imprint><date when="2010" type="published">2010</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>Aged</term>
<term>Brain (pathology)</term>
<term>Female</term>
<term>Humans</term>
<term>Image Processing, Computer-Assisted</term>
<term>Magnetic Resonance Imaging</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Nerve Fibers, Myelinated (pathology)</term>
<term>Neuropsychological Tests</term>
<term>Pyramidal Tracts (pathology)</term>
<term>Spastic Paraplegia, Hereditary (pathology)</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Brain</term>
<term>Nerve Fibers, Myelinated</term>
<term>Pyramidal Tracts</term>
<term>Spastic Paraplegia, Hereditary</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Aged</term>
<term>Female</term>
<term>Humans</term>
<term>Image Processing, Computer-Assisted</term>
<term>Magnetic Resonance Imaging</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Neuropsychological Tests</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>
</PubMed>
</double>
</record>
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