Myoclonus and Dystonia in Cerebrotendinous Xanthomatosis
Identifieur interne : 000119 ( France/Analysis ); précédent : 000118; suivant : 000120Myoclonus and Dystonia in Cerebrotendinous Xanthomatosis
Auteurs : Julien Lagarde [France] ; Emmanuel Roze [France] ; Emmanuelle Apartis [France] ; Deepa Pothalil [France] ; Frédéric Sedel [France] ; Philippe Couvert [France] ; Marie Vidailhet [France] ; Bertrand Degos [France]Source :
- Movement disorders [ 0885-3185 ] ; 2012.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
Abstract
Background: Cerebrotendinous xanthomatosis (CTX) is an inherited neurometabolic disorder. The main neurological manifestations of the disease are pyramidal syndrome, ataxia, peripheral neuropathy, cognitive impairment, epilepsy, and psychiatric disturbances. Myoclonic dystonia has been reported on in the setting of various neurometabolic diseases. Anecdotal reports describe movement disorders associated with CTX, but no dystonia with myoclonic events. Methods: We collected clinical, biochemical, electrophysiological, neuroradiological, and genetic data of 6 patients with myoclonus and mild dystonia associated with CTX. From a systematic literature review, we analyzed 31 patients with movement disorders secondary to CTX. Results: Our 6 patients presented distal myoclonus with mild dystonia of the upper limbs. Myoclonus was of subcortical origin, based on neurophysiological recordings, and differed from oromandibular myoclonus previously described in CTX patients. Conclusions: These results expand the phenotype of CTX and suggest that myoclonus and/or dystonia are underdiagnosed. In keeping with our findings, tremors previously observed in CTX patients might actually correspond to myoclonic events. We hypothesize that a dysfunction of the dentate nuclei-basal ganglia pathway may be involved.
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream PascalFrancis, to step Corpus: 000006
- to stream PascalFrancis, to step Curation: 002D08
- to stream PascalFrancis, to step Checkpoint: 000129
- to stream Main, to step Merge: 001108
- to stream Main, to step Curation: 001056
- to stream Main, to step Exploration: 001056
- to stream France, to step Extraction: 000119
Links to Exploration step
Pascal:13-0063596Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">Myoclonus and Dystonia in Cerebrotendinous Xanthomatosis</title><author><name sortKey="Lagarde, Julien" sort="Lagarde, Julien" uniqKey="Lagarde J" first="Julien" last="Lagarde">Julien Lagarde</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>AP-HP Département de Neurologie, Hôpital de la Salpêtrière</s1><s2>Paris</s2><s3>FRA</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></inist:fA14><country>France</country><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Roze, Emmanuel" sort="Roze, Emmanuel" uniqKey="Roze E" first="Emmanuel" last="Roze">Emmanuel Roze</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>AP-HP Département de Neurologie, Hôpital de la Salpêtrière</s1><s2>Paris</s2><s3>FRA</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></inist:fA14><country>France</country><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Apartis, Emmanuelle" sort="Apartis, Emmanuelle" uniqKey="Apartis E" first="Emmanuelle" last="Apartis">Emmanuelle Apartis</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>AP-HP Service de Physiologie, Hôpital Saint-Antoine</s1><s2>Paris</s2><s3>FRA</s3><sZ>3 aut.</sZ><sZ>4 aut.</sZ></inist:fA14><country>France</country><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Pothalil, Deepa" sort="Pothalil, Deepa" uniqKey="Pothalil D" first="Deepa" last="Pothalil">Deepa Pothalil</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>AP-HP Département de Neurologie, Hôpital de la Salpêtrière</s1><s2>Paris</s2><s3>FRA</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></inist:fA14><country>France</country><placeName><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>AP-HP Service de Physiologie, Hôpital Saint-Antoine</s1><s2>Paris</s2><s3>FRA</s3><sZ>3 aut.</sZ><sZ>4 aut.</sZ></inist:fA14><country>France</country><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Sedel, Frederic" sort="Sedel, Frederic" uniqKey="Sedel F" first="Frédéric" last="Sedel">Frédéric Sedel</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>AP-HP Département de Neurologie, Hôpital de la Salpêtrière</s1><s2>Paris</s2><s3>FRA</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></inist:fA14><country>France</country><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Couvert, Philippe" sort="Couvert, Philippe" uniqKey="Couvert P" first="Philippe" last="Couvert">Philippe Couvert</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>AP-HP Service de Biochimie endocrinienne et oncologique, Groupe Hospitalier Pitié-Salpêtrière</s1><s2>Paris</s2><s3>FRA</s3><sZ>6 aut.</sZ></inist:fA14><country>France</country><placeName><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>UMRS 939 INSERM/Université Pierre et Marie Curie-Paris 6</s1><s2>Paris</s2><s3>FRA</s3><sZ>6 aut.</sZ></inist:fA14><country>France</country><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>AP-HP Département de Neurologie, Hôpital de la Salpêtrière</s1><s2>Paris</s2><s3>FRA</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></inist:fA14><country>France</country><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Degos, Bertrand" sort="Degos, Bertrand" uniqKey="Degos B" first="Bertrand" last="Degos">Bertrand Degos</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>AP-HP Département de Neurologie, Hôpital de la Salpêtrière</s1><s2>Paris</s2><s3>FRA</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></inist:fA14><country>France</country><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">13-0063596</idno><date when="2012">2012</date><idno type="stanalyst">PASCAL 13-0063596 INIST</idno><idno type="RBID">Pascal:13-0063596</idno><idno type="wicri:Area/PascalFrancis/Corpus">000006</idno><idno type="wicri:Area/PascalFrancis/Curation">002D08</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">000129</idno><idno type="wicri:doubleKey">0885-3185:2012:Lagarde J:myoclonus:and:dystonia</idno><idno type="wicri:Area/Main/Merge">001108</idno><idno type="wicri:Area/Main/Curation">001056</idno><idno type="wicri:Area/Main/Exploration">001056</idno><idno type="wicri:Area/France/Extraction">000119</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Myoclonus and Dystonia in Cerebrotendinous Xanthomatosis</title><author><name sortKey="Lagarde, Julien" sort="Lagarde, Julien" uniqKey="Lagarde J" first="Julien" last="Lagarde">Julien Lagarde</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>AP-HP Département de Neurologie, Hôpital de la Salpêtrière</s1><s2>Paris</s2><s3>FRA</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></inist:fA14><country>France</country><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Roze, Emmanuel" sort="Roze, Emmanuel" uniqKey="Roze E" first="Emmanuel" last="Roze">Emmanuel Roze</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>AP-HP Département de Neurologie, Hôpital de la Salpêtrière</s1><s2>Paris</s2><s3>FRA</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></inist:fA14><country>France</country><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Apartis, Emmanuelle" sort="Apartis, Emmanuelle" uniqKey="Apartis E" first="Emmanuelle" last="Apartis">Emmanuelle Apartis</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>AP-HP Service de Physiologie, Hôpital Saint-Antoine</s1><s2>Paris</s2><s3>FRA</s3><sZ>3 aut.</sZ><sZ>4 aut.</sZ></inist:fA14><country>France</country><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Pothalil, Deepa" sort="Pothalil, Deepa" uniqKey="Pothalil D" first="Deepa" last="Pothalil">Deepa Pothalil</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>AP-HP Département de Neurologie, Hôpital de la Salpêtrière</s1><s2>Paris</s2><s3>FRA</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></inist:fA14><country>France</country><placeName><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>AP-HP Service de Physiologie, Hôpital Saint-Antoine</s1><s2>Paris</s2><s3>FRA</s3><sZ>3 aut.</sZ><sZ>4 aut.</sZ></inist:fA14><country>France</country><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Sedel, Frederic" sort="Sedel, Frederic" uniqKey="Sedel F" first="Frédéric" last="Sedel">Frédéric Sedel</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>AP-HP Département de Neurologie, Hôpital de la Salpêtrière</s1><s2>Paris</s2><s3>FRA</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></inist:fA14><country>France</country><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Couvert, Philippe" sort="Couvert, Philippe" uniqKey="Couvert P" first="Philippe" last="Couvert">Philippe Couvert</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>AP-HP Service de Biochimie endocrinienne et oncologique, Groupe Hospitalier Pitié-Salpêtrière</s1><s2>Paris</s2><s3>FRA</s3><sZ>6 aut.</sZ></inist:fA14><country>France</country><placeName><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>UMRS 939 INSERM/Université Pierre et Marie Curie-Paris 6</s1><s2>Paris</s2><s3>FRA</s3><sZ>6 aut.</sZ></inist:fA14><country>France</country><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>AP-HP Département de Neurologie, Hôpital de la Salpêtrière</s1><s2>Paris</s2><s3>FRA</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></inist:fA14><country>France</country><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Degos, Bertrand" sort="Degos, Bertrand" uniqKey="Degos B" first="Bertrand" last="Degos">Bertrand Degos</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>AP-HP Département de Neurologie, Hôpital de la Salpêtrière</s1><s2>Paris</s2><s3>FRA</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></inist:fA14><country>France</country><placeName><settlement type="city">Paris</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="2012">2012</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>Cerebrotendinous xanthomatosis</term><term>Dentate nucleus</term><term>Dystonia</term><term>Myoclonus</term><term>Nervous system diseases</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Myoclonie</term><term>Dystonie</term><term>Xanthomatose cérébrotendineuse</term><term>Pathologie du système nerveux</term><term>Noyau dentelé</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Background: Cerebrotendinous xanthomatosis (CTX) is an inherited neurometabolic disorder. The main neurological manifestations of the disease are pyramidal syndrome, ataxia, peripheral neuropathy, cognitive impairment, epilepsy, and psychiatric disturbances. Myoclonic dystonia has been reported on in the setting of various neurometabolic diseases. Anecdotal reports describe movement disorders associated with CTX, but no dystonia with myoclonic events. Methods: We collected clinical, biochemical, electrophysiological, neuroradiological, and genetic data of 6 patients with myoclonus and mild dystonia associated with CTX. From a systematic literature review, we analyzed 31 patients with movement disorders secondary to CTX. Results: Our 6 patients presented distal myoclonus with mild dystonia of the upper limbs. Myoclonus was of subcortical origin, based on neurophysiological recordings, and differed from oromandibular myoclonus previously described in CTX patients. Conclusions: These results expand the phenotype of CTX and suggest that myoclonus and/or dystonia are underdiagnosed. In keeping with our findings, tremors previously observed in CTX patients might actually correspond to myoclonic events. We hypothesize that a dysfunction of the dentate nuclei-basal ganglia pathway may be involved.</div></front></TEI><affiliations><list><country><li>France</li></country><settlement><li>Paris</li></settlement></list><tree><country name="France"><noRegion><name sortKey="Lagarde, Julien" sort="Lagarde, Julien" uniqKey="Lagarde J" first="Julien" last="Lagarde">Julien Lagarde</name></noRegion><name sortKey="Apartis, Emmanuelle" sort="Apartis, Emmanuelle" uniqKey="Apartis E" first="Emmanuelle" last="Apartis">Emmanuelle Apartis</name><name sortKey="Couvert, Philippe" sort="Couvert, Philippe" uniqKey="Couvert P" first="Philippe" last="Couvert">Philippe Couvert</name><name sortKey="Couvert, Philippe" sort="Couvert, Philippe" uniqKey="Couvert P" first="Philippe" last="Couvert">Philippe Couvert</name><name sortKey="Degos, Bertrand" sort="Degos, Bertrand" uniqKey="Degos B" first="Bertrand" last="Degos">Bertrand Degos</name><name sortKey="Pothalil, Deepa" sort="Pothalil, Deepa" uniqKey="Pothalil D" first="Deepa" last="Pothalil">Deepa Pothalil</name><name sortKey="Pothalil, Deepa" sort="Pothalil, Deepa" uniqKey="Pothalil D" first="Deepa" last="Pothalil">Deepa Pothalil</name><name sortKey="Roze, Emmanuel" sort="Roze, Emmanuel" uniqKey="Roze E" first="Emmanuel" last="Roze">Emmanuel Roze</name><name sortKey="Sedel, Frederic" sort="Sedel, Frederic" uniqKey="Sedel F" first="Frédéric" last="Sedel">Frédéric Sedel</name><name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/France/Analysis
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000119 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/France/Analysis/biblio.hfd -nk 000119 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= MovDisordV3
|flux= France
|étape= Analysis
|type= RBID
|clé= Pascal:13-0063596
|texte= Myoclonus and Dystonia in Cerebrotendinous Xanthomatosis
}}
| This area was generated with Dilib version V0.6.23. |  |