Ramsay Hunt syndrome: clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation.
Identifieur interne : 000454 ( Main/Exploration ); précédent : 000453; suivant : 000455Ramsay Hunt syndrome: clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation.
Auteurs : Martje E. Van Egmond [Pays-Bas] ; Corien C. Verschuuren-Bemelmans ; Esther A. Nibbeling ; Jan Willem J. Elting ; Deborah A. Sival ; Oebele F. Brouwer ; Jeroen J. De Vries ; Hubertus P. Kremer ; Richard J. Sinke ; Marina A. Tijssen ; Tom J. De KoningSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2014.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Qb-SNARE Proteins.
- genetics : Myoclonic Cerebellar Dyssynergia.
- physiopathology : Muscle, Skeletal, Myoclonic Cerebellar Dyssynergia.
- Adult, Child, DNA Mutational Analysis, Humans, Male, Mutation, Myography, Phenotype, Young Adult.
Abstract
Ramsay Hunt syndrome (progressive myoclonus ataxia) is a descriptive diagnosis characterized by myoclonus, ataxia, and infrequent seizures. Often the etiology cannot be determined. Recently, a mutation in the GOSR2 gene (c.430G>T, p.Gly144Trp) was reported in 6 patients with childhood-onset progressive ataxia and myoclonus.
DOI: 10.1002/mds.25704
PubMed: 24458321
Affiliations:
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Le document en format XML
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Van Egmond</name><affiliation wicri:level="4"><nlm:affiliation>Department of Neurology, University of Groningen, University Medical Center Groningen, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Neurology, University of Groningen, University Medical Center Groningen</wicri:regionArea><orgName type="university">Université de Groningue</orgName><placeName><settlement type="city">Groningue (ville)</settlement><region>Groningue (province)</region></placeName></affiliation></author><author><name sortKey="Verschuuren Bemelmans, Corien C" sort="Verschuuren Bemelmans, Corien C" uniqKey="Verschuuren Bemelmans C" first="Corien C" last="Verschuuren-Bemelmans">Corien C. Verschuuren-Bemelmans</name></author><author><name sortKey="Nibbeling, Esther A" sort="Nibbeling, Esther A" uniqKey="Nibbeling E" first="Esther A" last="Nibbeling">Esther A. Nibbeling</name></author><author><name sortKey="Elting, Jan Willem J" sort="Elting, Jan Willem J" uniqKey="Elting J" first="Jan Willem J" last="Elting">Jan Willem J. Elting</name></author><author><name sortKey="Sival, Deborah A" sort="Sival, Deborah A" uniqKey="Sival D" first="Deborah A" last="Sival">Deborah A. Sival</name></author><author><name sortKey="Brouwer, Oebele F" sort="Brouwer, Oebele F" uniqKey="Brouwer O" first="Oebele F" last="Brouwer">Oebele F. Brouwer</name></author><author><name sortKey="De Vries, Jeroen J" sort="De Vries, Jeroen J" uniqKey="De Vries J" first="Jeroen J" last="De Vries">Jeroen J. De Vries</name></author><author><name sortKey="Kremer, Hubertus P" sort="Kremer, Hubertus P" uniqKey="Kremer H" first="Hubertus P" last="Kremer">Hubertus P. Kremer</name></author><author><name sortKey="Sinke, Richard J" sort="Sinke, Richard J" uniqKey="Sinke R" first="Richard J" last="Sinke">Richard J. Sinke</name></author><author><name sortKey="Tijssen, Marina A" sort="Tijssen, Marina A" uniqKey="Tijssen M" first="Marina A" last="Tijssen">Marina A. Tijssen</name></author><author><name sortKey="De Koning, Tom J" sort="De Koning, Tom J" uniqKey="De Koning T" first="Tom J" last="De Koning">Tom J. De Koning</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="2014" type="published">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Child</term><term>DNA Mutational Analysis</term><term>Humans</term><term>Male</term><term>Muscle, Skeletal (physiopathology)</term><term>Mutation</term><term>Myoclonic Cerebellar Dyssynergia (genetics)</term><term>Myoclonic Cerebellar Dyssynergia (physiopathology)</term><term>Myography</term><term>Phenotype</term><term>Qb-SNARE Proteins (genetics)</term><term>Young Adult</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Qb-SNARE Proteins</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Myoclonic Cerebellar Dyssynergia</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Muscle, Skeletal</term><term>Myoclonic Cerebellar Dyssynergia</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Child</term><term>DNA Mutational Analysis</term><term>Humans</term><term>Male</term><term>Mutation</term><term>Myography</term><term>Phenotype</term><term>Young Adult</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Ramsay Hunt syndrome (progressive myoclonus ataxia) is a descriptive diagnosis characterized by myoclonus, ataxia, and infrequent seizures. Often the etiology cannot be determined. Recently, a mutation in the GOSR2 gene (c.430G>T, p.Gly144Trp) was reported in 6 patients with childhood-onset progressive ataxia and myoclonus.</div></front></TEI><affiliations><list><country><li>Pays-Bas</li></country><region><li>Groningue (province)</li></region><settlement><li>Groningue (ville)</li></settlement><orgName><li>Université de Groningue</li></orgName></list><tree><noCountry><name sortKey="Brouwer, Oebele F" sort="Brouwer, Oebele F" uniqKey="Brouwer O" first="Oebele F" last="Brouwer">Oebele F. Brouwer</name><name sortKey="De Koning, Tom J" sort="De Koning, Tom J" uniqKey="De Koning T" first="Tom J" last="De Koning">Tom J. De Koning</name><name sortKey="De Vries, Jeroen J" sort="De Vries, Jeroen J" uniqKey="De Vries J" first="Jeroen J" last="De Vries">Jeroen J. De Vries</name><name sortKey="Elting, Jan Willem J" sort="Elting, Jan Willem J" uniqKey="Elting J" first="Jan Willem J" last="Elting">Jan Willem J. Elting</name><name sortKey="Kremer, Hubertus P" sort="Kremer, Hubertus P" uniqKey="Kremer H" first="Hubertus P" last="Kremer">Hubertus P. Kremer</name><name sortKey="Nibbeling, Esther A" sort="Nibbeling, Esther A" uniqKey="Nibbeling E" first="Esther A" last="Nibbeling">Esther A. Nibbeling</name><name sortKey="Sinke, Richard J" sort="Sinke, Richard J" uniqKey="Sinke R" first="Richard J" last="Sinke">Richard J. Sinke</name><name sortKey="Sival, Deborah A" sort="Sival, Deborah A" uniqKey="Sival D" first="Deborah A" last="Sival">Deborah A. Sival</name><name sortKey="Tijssen, Marina A" sort="Tijssen, Marina A" uniqKey="Tijssen M" first="Marina A" last="Tijssen">Marina A. Tijssen</name><name sortKey="Verschuuren Bemelmans, Corien C" sort="Verschuuren Bemelmans, Corien C" uniqKey="Verschuuren Bemelmans C" first="Corien C" last="Verschuuren-Bemelmans">Corien C. Verschuuren-Bemelmans</name></noCountry><country name="Pays-Bas"><region name="Groningue (province)"><name sortKey="Van Egmond, Martje E" sort="Van Egmond, Martje E" uniqKey="Van Egmond M" first="Martje E" last="Van Egmond">Martje E. Van Egmond</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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