Myopathy Causing Camptocormia in Idiopathic Parkinson's Disease: A Multidisciplinary Approach
Identifieur interne : 002538 ( Main/Merge ); précédent : 002537; suivant : 002539Myopathy Causing Camptocormia in Idiopathic Parkinson's Disease: A Multidisciplinary Approach
Auteurs : Simone Spuler [Allemagne] ; Henriette Krug [Allemagne] ; Christine Klein [Allemagne] ; Isabel Chaure Medialdea [Allemagne] ; Wibke Jakob [Allemagne] ; Georg Ebersbach [Allemagne] ; Doreen Gruber [Allemagne] ; Karl-Titus Hoffmann [Allemagne] ; Thomas Trottenberg [Allemagne] ; Andreas Kupsch [Allemagne]Source :
- Movement disorders [ 0885-3185 ] ; 2010.
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Abstract
Extreme forward flexion of the spine, named camptocormia (CC), and head drop syndrome (HD) may be among the most disabling symptoms in Parkinson's disease (PD). This study aims to eludicate the etiology of PD-associated CC and HD via a multidisciplinary approach (clinical examination, electromyography, MRI, genetic analysis, muscle morphology) centering on the histology of the paraspinal muscles. We studied 17 patients with the clinical diagnosis of PD and CC or head drop syndrome and six controls. We performed muscle biopsies of paraspinal muscles and deep neck extensor muscles. Mean age at onset of postural abnormality was 66 years and mean latency between onset of parkinsonian symptoms to first signs of CC or head drop was 7 years. The electromyogram of paraspinal muscles was abnormal in 13-14 patients. Histopathology revealed chronic myopathic changes in 14 of 17 biopsies, consisting of abnormal variation in fiber size, increase in internal nuclei, and increase in connective tissue, myofibrillar disarray and similarities to protein surplus myopathies. Interestingly, heterozygous variants in the Parkin gene were found in 2 of 9 investigated patients. We conclude that CC and HD in PD are predominantly myopathic. Aberrant protein aggregation may link PD and CC.
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">Myopathy Causing Camptocormia in Idiopathic Parkinson's Disease: A Multidisciplinary Approach</title><author><name sortKey="Spuler, Simone" sort="Spuler, Simone" uniqKey="Spuler S" first="Simone" last="Spuler">Simone Spuler</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology, Neurosurgery and Neuroradiology, Charité University Medicine Berlin</s1><s2>Berlin</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Muscle Research Unit, Experimental and Clinical Research Center, Charité University Medicine Berlin and the Max-Delbrück Centre of Molecular 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Wibke" sort="Jakob, Wibke" uniqKey="Jakob W" first="Wibke" last="Jakob">Wibke Jakob</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology, Neurosurgery and Neuroradiology, Charité University Medicine Berlin</s1><s2>Berlin</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation></author><author><name sortKey="Ebersbach, Georg" sort="Ebersbach, Georg" uniqKey="Ebersbach G" first="Georg" last="Ebersbach">Georg Ebersbach</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Movement Disorders Clinic</s1><s2>Beelitz Heilstätten</s2><s3>DEU</s3><sZ>6 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Beelitz Heilstätten</wicri:noRegion><wicri:noRegion>Movement Disorders Clinic</wicri:noRegion><wicri:noRegion>Movement Disorders Clinic</wicri:noRegion></affiliation></author><author><name sortKey="Gruber, Doreen" sort="Gruber, Doreen" uniqKey="Gruber D" first="Doreen" last="Gruber">Doreen Gruber</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology, Neurosurgery and Neuroradiology, Charité University Medicine Berlin</s1><s2>Berlin</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation></author><author><name sortKey="Hoffmann, Karl Titus" sort="Hoffmann, Karl Titus" uniqKey="Hoffmann K" first="Karl-Titus" last="Hoffmann">Karl-Titus Hoffmann</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology, Neurosurgery and Neuroradiology, Charité University Medicine Berlin</s1><s2>Berlin</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation></author><author><name sortKey="Trottenberg, Thomas" sort="Trottenberg, Thomas" uniqKey="Trottenberg T" first="Thomas" last="Trottenberg">Thomas Trottenberg</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology, Neurosurgery and Neuroradiology, Charité University Medicine Berlin</s1><s2>Berlin</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation></author><author><name sortKey="Kupsch, Andreas" sort="Kupsch, Andreas" uniqKey="Kupsch A" first="Andreas" last="Kupsch">Andreas Kupsch</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology, Neurosurgery and Neuroradiology, Charité University Medicine Berlin</s1><s2>Berlin</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">10-0233208</idno><date when="2010">2010</date><idno type="stanalyst">PASCAL 10-0233208 INIST</idno><idno type="RBID">Pascal:10-0233208</idno><idno type="wicri:Area/PascalFrancis/Corpus">000B47</idno><idno type="wicri:Area/PascalFrancis/Curation">002172</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">000951</idno><idno type="wicri:doubleKey">0885-3185:2010:Spuler S:myopathy:causing:camptocormia</idno><idno type="wicri:Area/Main/Merge">002538</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Myopathy Causing Camptocormia in Idiopathic Parkinson's Disease: A Multidisciplinary Approach</title><author><name sortKey="Spuler, Simone" sort="Spuler, Simone" uniqKey="Spuler S" first="Simone" last="Spuler">Simone Spuler</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology, Neurosurgery and Neuroradiology, Charité University Medicine Berlin</s1><s2>Berlin</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Muscle Research Unit, Experimental and Clinical Research Center, Charité University Medicine Berlin and the Max-Delbrück Centre of Molecular Medicine</s1><s2>Berlin</s2><s3>DEU</s3><sZ>1 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation></author><author><name sortKey="Krug, Henriette" sort="Krug, Henriette" uniqKey="Krug H" first="Henriette" last="Krug">Henriette Krug</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology, Neurosurgery and Neuroradiology, Charité University Medicine Berlin</s1><s2>Berlin</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation></author><author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Neurology, University of Lübeck</s1><s2>Lübeck</s2><s3>DEU</s3><sZ>3 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>University of Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Medialdea, Isabel Chaure" sort="Medialdea, Isabel Chaure" uniqKey="Medialdea I" first="Isabel Chaure" last="Medialdea">Isabel Chaure Medialdea</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology, Neurosurgery and Neuroradiology, Charité University Medicine Berlin</s1><s2>Berlin</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation></author><author><name sortKey="Jakob, Wibke" sort="Jakob, Wibke" uniqKey="Jakob W" first="Wibke" last="Jakob">Wibke Jakob</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology, Neurosurgery and Neuroradiology, Charité University Medicine Berlin</s1><s2>Berlin</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation></author><author><name sortKey="Ebersbach, Georg" sort="Ebersbach, Georg" uniqKey="Ebersbach G" first="Georg" last="Ebersbach">Georg Ebersbach</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Movement Disorders Clinic</s1><s2>Beelitz Heilstätten</s2><s3>DEU</s3><sZ>6 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Beelitz Heilstätten</wicri:noRegion><wicri:noRegion>Movement Disorders Clinic</wicri:noRegion><wicri:noRegion>Movement Disorders Clinic</wicri:noRegion></affiliation></author><author><name sortKey="Gruber, Doreen" sort="Gruber, Doreen" uniqKey="Gruber D" first="Doreen" last="Gruber">Doreen Gruber</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology, Neurosurgery and Neuroradiology, Charité University Medicine Berlin</s1><s2>Berlin</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation></author><author><name sortKey="Hoffmann, Karl Titus" sort="Hoffmann, Karl Titus" uniqKey="Hoffmann K" first="Karl-Titus" last="Hoffmann">Karl-Titus Hoffmann</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology, Neurosurgery and Neuroradiology, Charité University Medicine Berlin</s1><s2>Berlin</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation></author><author><name sortKey="Trottenberg, Thomas" sort="Trottenberg, Thomas" uniqKey="Trottenberg T" first="Thomas" last="Trottenberg">Thomas Trottenberg</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology, Neurosurgery and Neuroradiology, Charité University Medicine Berlin</s1><s2>Berlin</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation></author><author><name sortKey="Kupsch, Andreas" sort="Kupsch, Andreas" uniqKey="Kupsch A" first="Andreas" last="Kupsch">Andreas Kupsch</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology, Neurosurgery and Neuroradiology, Charité University Medicine Berlin</s1><s2>Berlin</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</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>Dorsal spine</term><term>Head</term><term>Idiopathic</term><term>Kyphosis</term><term>Myopathy</term><term>Nervous system diseases</term><term>Parkinson disease</term><term>Protein</term><term>Surgical approach</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Myopathie</term><term>Cyphose</term><term>Maladie de Parkinson</term><term>Pathologie du système nerveux</term><term>Idiopathique</term><term>Voie abord</term><term>Tête</term><term>Protéine</term><term>Rachis dorsal</term><term>Camptocormie</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Extreme forward flexion of the spine, named camptocormia (CC), and head drop syndrome (HD) may be among the most disabling symptoms in Parkinson's disease (PD). This study aims to eludicate the etiology of PD-associated CC and HD via a multidisciplinary approach (clinical examination, electromyography, MRI, genetic analysis, muscle morphology) centering on the histology of the paraspinal muscles. We studied 17 patients with the clinical diagnosis of PD and CC or head drop syndrome and six controls. We performed muscle biopsies of paraspinal muscles and deep neck extensor muscles. Mean age at onset of postural abnormality was 66 years and mean latency between onset of parkinsonian symptoms to first signs of CC or head drop was 7 years. The electromyogram of paraspinal muscles was abnormal in 13-14 patients. Histopathology revealed chronic myopathic changes in 14 of 17 biopsies, consisting of abnormal variation in fiber size, increase in internal nuclei, and increase in connective tissue, myofibrillar disarray and similarities to protein surplus myopathies. Interestingly, heterozygous variants in the Parkin gene were found in 2 of 9 investigated patients. We conclude that CC and HD in PD are predominantly myopathic. Aberrant protein aggregation may link PD and CC.</div></front></TEI><affiliations><list><country><li>Allemagne</li></country><region><li>Berlin</li></region><settlement><li>Berlin</li></settlement></list><tree><country name="Allemagne"><region name="Berlin"><name sortKey="Spuler, Simone" sort="Spuler, Simone" uniqKey="Spuler S" first="Simone" last="Spuler">Simone Spuler</name></region><name sortKey="Ebersbach, Georg" sort="Ebersbach, Georg" uniqKey="Ebersbach G" first="Georg" last="Ebersbach">Georg Ebersbach</name><name sortKey="Gruber, Doreen" sort="Gruber, Doreen" uniqKey="Gruber D" first="Doreen" last="Gruber">Doreen Gruber</name><name sortKey="Hoffmann, Karl Titus" sort="Hoffmann, Karl Titus" uniqKey="Hoffmann K" first="Karl-Titus" last="Hoffmann">Karl-Titus Hoffmann</name><name sortKey="Jakob, Wibke" sort="Jakob, Wibke" uniqKey="Jakob W" first="Wibke" last="Jakob">Wibke Jakob</name><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><name sortKey="Krug, Henriette" sort="Krug, Henriette" uniqKey="Krug H" first="Henriette" last="Krug">Henriette Krug</name><name sortKey="Kupsch, Andreas" sort="Kupsch, Andreas" uniqKey="Kupsch A" first="Andreas" last="Kupsch">Andreas Kupsch</name><name sortKey="Medialdea, Isabel Chaure" sort="Medialdea, Isabel Chaure" uniqKey="Medialdea I" first="Isabel Chaure" last="Medialdea">Isabel Chaure Medialdea</name><name sortKey="Spuler, Simone" sort="Spuler, Simone" uniqKey="Spuler S" first="Simone" last="Spuler">Simone Spuler</name><name sortKey="Trottenberg, Thomas" sort="Trottenberg, Thomas" uniqKey="Trottenberg T" first="Thomas" last="Trottenberg">Thomas Trottenberg</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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