Myoclonus and dystonia in cerebrotendinous xanthomatosis.
Identifieur interne : 000094 ( France/Analysis ); précédent : 000093; suivant : 000095Myoclonus and dystonia in cerebrotendinous xanthomatosis.
Auteurs : Julien Lagarde [France] ; Emmanuel Roze ; Emmanuelle Apartis ; Deepa Pothalil ; Frédéric Sedel ; Philippe Couvert ; Marie Vidailhet ; Bertrand DegosSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2012.
English descriptors
- KwdEn :
- Adolescent, Age of Onset, Cognition Disorders (complications), Cognition Disorders (genetics), Dystonia (complications), Dystonia (genetics), Epilepsy (complications), Female, Humans, Male, Myoclonus (complications), Myoclonus (genetics), Xanthomatosis, Cerebrotendinous (etiology), Xanthomatosis, Cerebrotendinous (genetics).
- MESH :
- complications : Cognition Disorders, Dystonia, Epilepsy, Myoclonus.
- etiology : Xanthomatosis, Cerebrotendinous.
- genetics : Cognition Disorders, Dystonia, Myoclonus, Xanthomatosis, Cerebrotendinous.
- Adolescent, Age of Onset, Female, Humans, Male.
Abstract
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.
DOI: 10.1002/mds.25206
PubMed: 23115103
Affiliations:
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pubmed:23115103Le document en format XML
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uniqKey="Pothalil D" first="Deepa" last="Pothalil">Deepa Pothalil</name></author><author><name sortKey="Sedel, Frederic" sort="Sedel, Frederic" uniqKey="Sedel F" first="Frédéric" last="Sedel">Frédéric Sedel</name></author><author><name sortKey="Couvert, Philippe" sort="Couvert, Philippe" uniqKey="Couvert P" first="Philippe" last="Couvert">Philippe Couvert</name></author><author><name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name></author><author><name sortKey="Degos, Bertrand" sort="Degos, Bertrand" uniqKey="Degos B" first="Bertrand" last="Degos">Bertrand Degos</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2012">2012</date><idno type="doi">10.1002/mds.25206</idno><idno type="RBID">pubmed:23115103</idno><idno type="pmid">23115103</idno><idno type="wicri:Area/PubMed/Corpus">000B88</idno><idno type="wicri:Area/PubMed/Curation">000B88</idno><idno 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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></author><author><name sortKey="Apartis, Emmanuelle" sort="Apartis, Emmanuelle" uniqKey="Apartis E" first="Emmanuelle" last="Apartis">Emmanuelle Apartis</name></author><author><name sortKey="Pothalil, Deepa" sort="Pothalil, Deepa" uniqKey="Pothalil D" first="Deepa" last="Pothalil">Deepa Pothalil</name></author><author><name sortKey="Sedel, Frederic" sort="Sedel, Frederic" uniqKey="Sedel F" first="Frédéric" last="Sedel">Frédéric Sedel</name></author><author><name sortKey="Couvert, Philippe" sort="Couvert, Philippe" uniqKey="Couvert P" first="Philippe" last="Couvert">Philippe Couvert</name></author><author><name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name></author><author><name sortKey="Degos, Bertrand" sort="Degos, Bertrand" uniqKey="Degos B" first="Bertrand" last="Degos">Bertrand Degos</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="2012" type="published">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Age of Onset</term><term>Cognition Disorders (complications)</term><term>Cognition Disorders (genetics)</term><term>Dystonia (complications)</term><term>Dystonia (genetics)</term><term>Epilepsy (complications)</term><term>Female</term><term>Humans</term><term>Male</term><term>Myoclonus (complications)</term><term>Myoclonus (genetics)</term><term>Xanthomatosis, Cerebrotendinous (etiology)</term><term>Xanthomatosis, Cerebrotendinous (genetics)</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Cognition Disorders</term><term>Dystonia</term><term>Epilepsy</term><term>Myoclonus</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Xanthomatosis, Cerebrotendinous</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Cognition Disorders</term><term>Dystonia</term><term>Myoclonus</term><term>Xanthomatosis, Cerebrotendinous</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Age of Onset</term><term>Female</term><term>Humans</term><term>Male</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">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.</div></front></TEI><affiliations><list><country><li>France</li></country><settlement><li>Paris</li></settlement></list><tree><noCountry><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="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="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></noCountry><country name="France"><noRegion><name sortKey="Lagarde, Julien" sort="Lagarde, Julien" uniqKey="Lagarde J" first="Julien" last="Lagarde">Julien Lagarde</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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