Feeding Dystonia in McLeod Syndrome
Identifieur interne : 000600 ( PascalFrancis/Checkpoint ); précédent : 000599; suivant : 000601Feeding Dystonia in McLeod Syndrome
Auteurs : Andreas R. Gantenbein [Suisse] ; Nathalie Damon-Perriere [France] ; Jorg E. Bohlender [Suisse] ; Marie Chauveau [France] ; Chrystelle Latxague [France] ; Marcelo Miranda [Chili] ; Hans H. Jung [Suisse] ; François Tison [France]Source :
- Movement disorders [ 0885-3185 ] ; 2011.
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Abstract
Background: The X-linked McLeod syndrome belongs to the group of neuroacanthocytosis syndromes and has a Huntington-disease-like phenotype with a choreatic movement disorder, cognitive alterations, and psychiatric symptoms. Another neuroacanthocytosis syndrome, the autosomal recessive chorea-acanthocytosis, has a similar presentation, but distinct clinical features, believed to be characteristic, such as tongue protrusion dystonia, feeding dystonia, and rubber-man-like appearance. Methods: This work comprised a case series of 3 patients with McLeod syndrome. Results: The 3 patients with McLeod syndrome developed severe feeding dystonia and tongue protrusion as well as rubber-man-like appearance in 1 patient during the course of the disease. Conclusion: These observations indicate that there is an extended phenotypic overlap between McLeod syndrome and chorea-acanthocytosis.
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">Feeding Dystonia in McLeod Syndrome</title><author><name sortKey="Gantenbein, Andreas R" sort="Gantenbein, Andreas R" uniqKey="Gantenbein A" first="Andreas R." last="Gantenbein">Andreas R. Gantenbein</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology, University Hospital Zürich</s1><s2>Zürich</s2><s3>CHE</s3><sZ>1 aut.</sZ><sZ>7 aut.</sZ></inist:fA14><country>Suisse</country><placeName><settlement type="city">Zurich</settlement><region nuts="3" type="region">Canton de Zurich</region></placeName></affiliation></author><author><name sortKey="Damon Perriere, Nathalie" sort="Damon Perriere, Nathalie" uniqKey="Damon Perriere N" first="Nathalie" last="Damon-Perriere">Nathalie Damon-Perriere</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, University Hospital Bordeaux</s1><s2>Bordeaux</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>France</country><placeName><settlement type="city">Bordeaux</settlement></placeName></affiliation></author><author><name sortKey="Bohlender, Jorg E" sort="Bohlender, Jorg E" uniqKey="Bohlender J" first="Jorg E." last="Bohlender">Jorg E. Bohlender</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Department of Oto-Rhino-Laryngology, Division of Phoniatry, University Hospital Zürich</s1><s2>Zürich</s2><s3>CHE</s3><sZ>3 aut.</sZ></inist:fA14><country>Suisse</country><placeName><settlement type="city">Zurich</settlement><region nuts="3" type="region">Canton de Zurich</region></placeName></affiliation></author><author><name sortKey="Chauveau, Marie" sort="Chauveau, Marie" uniqKey="Chauveau M" first="Marie" last="Chauveau">Marie Chauveau</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, University Hospital Bordeaux</s1><s2>Bordeaux</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>France</country><placeName><settlement type="city">Bordeaux</settlement></placeName></affiliation></author><author><name sortKey="Latxague, Chrystelle" sort="Latxague, Chrystelle" uniqKey="Latxague C" first="Chrystelle" last="Latxague">Chrystelle Latxague</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, University Hospital Bordeaux</s1><s2>Bordeaux</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>France</country><placeName><settlement type="city">Bordeaux</settlement></placeName></affiliation></author><author><name sortKey="Miranda, Marcelo" sort="Miranda, Marcelo" uniqKey="Miranda M" first="Marcelo" last="Miranda">Marcelo Miranda</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurology, Clinica Las Condes</s1><s2>Santiago</s2><s3>CHL</s3><sZ>6 aut.</sZ></inist:fA14><country>Chili</country><wicri:noRegion>Santiago</wicri:noRegion></affiliation></author><author><name sortKey="Jung, Hans H" sort="Jung, Hans H" uniqKey="Jung H" first="Hans H." last="Jung">Hans H. Jung</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology, University Hospital Zürich</s1><s2>Zürich</s2><s3>CHE</s3><sZ>1 aut.</sZ><sZ>7 aut.</sZ></inist:fA14><country>Suisse</country><placeName><settlement type="city">Zurich</settlement><region nuts="3" type="region">Canton de Zurich</region></placeName></affiliation></author><author><name sortKey="Tison, Francois" sort="Tison, Francois" uniqKey="Tison F" first="François" last="Tison">François Tison</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, University Hospital Bordeaux</s1><s2>Bordeaux</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>France</country><placeName><settlement type="city">Bordeaux</settlement></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">11-0444655</idno><date when="2011">2011</date><idno type="stanalyst">PASCAL 11-0444655 INIST</idno><idno type="RBID">Pascal:11-0444655</idno><idno type="wicri:Area/PascalFrancis/Corpus">000393</idno><idno type="wicri:Area/PascalFrancis/Curation">002925</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">000600</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Feeding Dystonia in McLeod Syndrome</title><author><name sortKey="Gantenbein, Andreas R" sort="Gantenbein, Andreas R" uniqKey="Gantenbein A" first="Andreas R." last="Gantenbein">Andreas R. Gantenbein</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology, University Hospital Zürich</s1><s2>Zürich</s2><s3>CHE</s3><sZ>1 aut.</sZ><sZ>7 aut.</sZ></inist:fA14><country>Suisse</country><placeName><settlement type="city">Zurich</settlement><region nuts="3" type="region">Canton de Zurich</region></placeName></affiliation></author><author><name sortKey="Damon Perriere, Nathalie" sort="Damon Perriere, Nathalie" uniqKey="Damon Perriere N" first="Nathalie" last="Damon-Perriere">Nathalie Damon-Perriere</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, University Hospital Bordeaux</s1><s2>Bordeaux</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>France</country><placeName><settlement type="city">Bordeaux</settlement></placeName></affiliation></author><author><name sortKey="Bohlender, Jorg E" sort="Bohlender, Jorg E" uniqKey="Bohlender J" first="Jorg E." last="Bohlender">Jorg E. Bohlender</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Department of Oto-Rhino-Laryngology, Division of Phoniatry, University Hospital Zürich</s1><s2>Zürich</s2><s3>CHE</s3><sZ>3 aut.</sZ></inist:fA14><country>Suisse</country><placeName><settlement type="city">Zurich</settlement><region nuts="3" type="region">Canton de Zurich</region></placeName></affiliation></author><author><name sortKey="Chauveau, Marie" sort="Chauveau, Marie" uniqKey="Chauveau M" first="Marie" last="Chauveau">Marie Chauveau</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, University Hospital Bordeaux</s1><s2>Bordeaux</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>France</country><placeName><settlement type="city">Bordeaux</settlement></placeName></affiliation></author><author><name sortKey="Latxague, Chrystelle" sort="Latxague, Chrystelle" uniqKey="Latxague C" first="Chrystelle" last="Latxague">Chrystelle Latxague</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, University Hospital Bordeaux</s1><s2>Bordeaux</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>France</country><placeName><settlement type="city">Bordeaux</settlement></placeName></affiliation></author><author><name sortKey="Miranda, Marcelo" sort="Miranda, Marcelo" uniqKey="Miranda M" first="Marcelo" last="Miranda">Marcelo Miranda</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurology, Clinica Las Condes</s1><s2>Santiago</s2><s3>CHL</s3><sZ>6 aut.</sZ></inist:fA14><country>Chili</country><wicri:noRegion>Santiago</wicri:noRegion></affiliation></author><author><name sortKey="Jung, Hans H" sort="Jung, Hans H" uniqKey="Jung H" first="Hans H." last="Jung">Hans H. Jung</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology, University Hospital Zürich</s1><s2>Zürich</s2><s3>CHE</s3><sZ>1 aut.</sZ><sZ>7 aut.</sZ></inist:fA14><country>Suisse</country><placeName><settlement type="city">Zurich</settlement><region nuts="3" type="region">Canton de Zurich</region></placeName></affiliation></author><author><name sortKey="Tison, Francois" sort="Tison, Francois" uniqKey="Tison F" first="François" last="Tison">François Tison</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, University Hospital Bordeaux</s1><s2>Bordeaux</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>France</country><placeName><settlement type="city">Bordeaux</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="2011">2011</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>Dystonia</term><term>MacLeod syndrome</term><term>Nervous system diseases</term><term>Sex linked character</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Dystonie</term><term>Pathologie du système nerveux</term><term>Caractère lié au sexe</term><term>Syndrome de MacLeod</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Background: The X-linked McLeod syndrome belongs to the group of neuroacanthocytosis syndromes and has a Huntington-disease-like phenotype with a choreatic movement disorder, cognitive alterations, and psychiatric symptoms. Another neuroacanthocytosis syndrome, the autosomal recessive chorea-acanthocytosis, has a similar presentation, but distinct clinical features, believed to be characteristic, such as tongue protrusion dystonia, feeding dystonia, and rubber-man-like appearance. Methods: This work comprised a case series of 3 patients with McLeod syndrome. Results: The 3 patients with McLeod syndrome developed severe feeding dystonia and tongue protrusion as well as rubber-man-like appearance in 1 patient during the course of the disease. Conclusion: These observations indicate that there is an extended phenotypic overlap between McLeod syndrome and chorea-acanthocytosis.</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>26</s2></fA05><fA06><s2>11</s2></fA06><fA08 i1="01" i2="1" l="ENG"><s1>Feeding Dystonia in McLeod Syndrome</s1></fA08><fA11 i1="01" i2="1"><s1>GANTENBEIN (Andreas R.)</s1></fA11><fA11 i1="02" i2="1"><s1>DAMON-PERRIERE (Nathalie)</s1></fA11><fA11 i1="03" i2="1"><s1>BOHLENDER (Jorg E.)</s1></fA11><fA11 i1="04" i2="1"><s1>CHAUVEAU (Marie)</s1></fA11><fA11 i1="05" i2="1"><s1>LATXAGUE (Chrystelle)</s1></fA11><fA11 i1="06" i2="1"><s1>MIRANDA (Marcelo)</s1></fA11><fA11 i1="07" i2="1"><s1>JUNG (Hans H.)</s1></fA11><fA11 i1="08" i2="1"><s1>TISON (François)</s1></fA11><fA14 i1="01"><s1>Department of Neurology, University Hospital Zürich</s1><s2>Zürich</s2><s3>CHE</s3><sZ>1 aut.</sZ><sZ>7 aut.</sZ></fA14><fA14 i1="02"><s1>Department of Neurology, University Hospital Bordeaux</s1><s2>Bordeaux</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>8 aut.</sZ></fA14><fA14 i1="03"><s1>Department of Oto-Rhino-Laryngology, Division of Phoniatry, University Hospital Zürich</s1><s2>Zürich</s2><s3>CHE</s3><sZ>3 aut.</sZ></fA14><fA14 i1="04"><s1>Department of Neurology, Clinica Las Condes</s1><s2>Santiago</s2><s3>CHL</s3><sZ>6 aut.</sZ></fA14><fA20><s1>2123-2126</s1></fA20><fA21><s1>2011</s1></fA21><fA23 i1="01"><s0>ENG</s0></fA23><fA43 i1="01"><s1>INIST</s1><s2>20953</s2><s5>354000509954560260</s5></fA43><fA44><s0>0000</s0><s1>© 2011 INIST-CNRS. All rights reserved.</s1></fA44><fA45><s0>17 ref.</s0></fA45><fA47 i1="01" i2="1"><s0>11-0444655</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>Background: The X-linked McLeod syndrome belongs to the group of neuroacanthocytosis syndromes and has a Huntington-disease-like phenotype with a choreatic movement disorder, cognitive alterations, and psychiatric symptoms. Another neuroacanthocytosis syndrome, the autosomal recessive chorea-acanthocytosis, has a similar presentation, but distinct clinical features, believed to be characteristic, such as tongue protrusion dystonia, feeding dystonia, and rubber-man-like appearance. Methods: This work comprised a case series of 3 patients with McLeod syndrome. Results: The 3 patients with McLeod syndrome developed severe feeding dystonia and tongue protrusion as well as rubber-man-like appearance in 1 patient during the course of the disease. Conclusion: These observations indicate that there is an extended phenotypic overlap between McLeod syndrome and chorea-acanthocytosis.</s0></fC01><fC02 i1="01" i2="X"><s0>002B17</s0></fC02><fC02 i1="02" i2="X"><s0>002B17H</s0></fC02><fC03 i1="01" i2="X" l="FRE"><s0>Dystonie</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="ENG"><s0>Dystonia</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="SPA"><s0>Distonía</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>Caractère lié au sexe</s0><s5>78</s5></fC03><fC03 i1="03" i2="X" l="ENG"><s0>Sex linked character</s0><s5>78</s5></fC03><fC03 i1="03" i2="X" l="SPA"><s0>Carácter ligado al sexo</s0><s5>78</s5></fC03><fC03 i1="04" i2="X" l="FRE"><s0>Syndrome de MacLeod</s0><s4>CD</s4><s5>96</s5></fC03><fC03 i1="04" i2="X" l="ENG"><s0>MacLeod syndrome</s0><s4>CD</s4><s5>96</s5></fC03><fC03 i1="04" i2="X" l="SPA"><s0>Síndrome de MacLeod</s0><s4>CD</s4><s5>96</s5></fC03><fC07 i1="01" i2="X" l="FRE"><s0>Syndrome extrapyramidal</s0><s5>37</s5></fC07><fC07 i1="01" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0><s5>37</s5></fC07><fC07 i1="01" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0><s5>37</s5></fC07><fC07 i1="02" i2="X" l="FRE"><s0>Mouvement involontaire</s0><s5>38</s5></fC07><fC07 i1="02" i2="X" l="ENG"><s0>Involuntary movement</s0><s5>38</s5></fC07><fC07 i1="02" i2="X" l="SPA"><s0>Movimiento involuntario</s0><s5>38</s5></fC07><fC07 i1="03" i2="X" l="FRE"><s0>Pathologie du muscle strié</s0><s5>39</s5></fC07><fC07 i1="03" i2="X" l="ENG"><s0>Striated muscle disease</s0><s5>39</s5></fC07><fC07 i1="03" i2="X" l="SPA"><s0>Músculo estriado patología</s0><s5>39</s5></fC07><fC07 i1="04" i2="X" l="FRE"><s0>Trouble neurologique</s0><s5>41</s5></fC07><fC07 i1="04" i2="X" l="ENG"><s0>Neurological disorder</s0><s5>41</s5></fC07><fC07 i1="04" i2="X" l="SPA"><s0>Trastorno neurológico</s0><s5>41</s5></fC07><fC07 i1="05" i2="X" l="FRE"><s0>Hémopathie</s0><s5>42</s5></fC07><fC07 i1="05" i2="X" l="ENG"><s0>Hemopathy</s0><s5>42</s5></fC07><fC07 i1="05" i2="X" l="SPA"><s0>Hemopatía</s0><s5>42</s5></fC07><fC07 i1="06" i2="X" l="FRE"><s0>Pathologie neuromusculaire</s0><s5>43</s5></fC07><fC07 i1="06" i2="X" l="ENG"><s0>Neuromuscular diseases</s0><s5>43</s5></fC07><fC07 i1="06" i2="X" l="SPA"><s0>Neuromuscular patología</s0><s5>43</s5></fC07><fC07 i1="07" i2="X" l="FRE"><s0>Pathologie du système nerveux central</s0><s5>44</s5></fC07><fC07 i1="07" i2="X" l="ENG"><s0>Central nervous system disease</s0><s5>44</s5></fC07><fC07 i1="07" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0><s5>44</s5></fC07><fC07 i1="08" i2="X" l="FRE"><s0>Pathologie de l'encéphale</s0><s5>45</s5></fC07><fC07 i1="08" i2="X" l="ENG"><s0>Cerebral disorder</s0><s5>45</s5></fC07><fC07 i1="08" i2="X" l="SPA"><s0>Encéfalo patología</s0><s5>45</s5></fC07><fN21><s1>305</s1></fN21><fN44 i1="01"><s1>OTO</s1></fN44><fN82><s1>OTO</s1></fN82></pA></standard></inist><affiliations><list><country><li>Chili</li><li>France</li><li>Suisse</li></country><region><li>Canton de Zurich</li></region><settlement><li>Bordeaux</li><li>Zurich</li></settlement></list><tree><country name="Suisse"><region name="Canton de Zurich"><name sortKey="Gantenbein, Andreas R" sort="Gantenbein, Andreas R" uniqKey="Gantenbein A" first="Andreas R." last="Gantenbein">Andreas R. Gantenbein</name></region><name sortKey="Bohlender, Jorg E" sort="Bohlender, Jorg E" uniqKey="Bohlender J" first="Jorg E." last="Bohlender">Jorg E. Bohlender</name><name sortKey="Jung, Hans H" sort="Jung, Hans H" uniqKey="Jung H" first="Hans H." last="Jung">Hans H. Jung</name></country><country name="France"><noRegion><name sortKey="Damon Perriere, Nathalie" sort="Damon Perriere, Nathalie" uniqKey="Damon Perriere N" first="Nathalie" last="Damon-Perriere">Nathalie Damon-Perriere</name></noRegion><name sortKey="Chauveau, Marie" sort="Chauveau, Marie" uniqKey="Chauveau M" first="Marie" last="Chauveau">Marie Chauveau</name><name sortKey="Latxague, Chrystelle" sort="Latxague, Chrystelle" uniqKey="Latxague C" first="Chrystelle" last="Latxague">Chrystelle Latxague</name><name sortKey="Tison, Francois" sort="Tison, Francois" uniqKey="Tison F" first="François" last="Tison">François Tison</name></country><country name="Chili"><noRegion><name sortKey="Miranda, Marcelo" sort="Miranda, Marcelo" uniqKey="Miranda M" first="Marcelo" last="Miranda">Marcelo Miranda</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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