Ramsay Hunt syndrome: clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation.
Identifieur interne : 000457 ( PubMed/Checkpoint ); précédent : 000456; suivant : 000458Ramsay 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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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></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2014">2014</date><idno type="doi">10.1002/mds.25704</idno><idno type="RBID">pubmed:24458321</idno><idno type="pmid">24458321</idno><idno type="wicri:Area/PubMed/Corpus">000597</idno><idno type="wicri:Area/PubMed/Curation">000597</idno><idno type="wicri:Area/PubMed/Checkpoint">000457</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Ramsay Hunt syndrome: clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation.</title><author><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><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><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">24458321</PMID><DateCreated><Year>2014</Year><Month>01</Month><Day>24</Day></DateCreated><DateCompleted><Year>2014</Year><Month>09</Month><Day>19</Day></DateCompleted><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>29</Volume><Issue>1</Issue><PubDate><Year>2014</Year><Month>Jan</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Ramsay Hunt syndrome: clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation.</ArticleTitle><Pagination><MedlinePgn>139-43</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.25704</ELocationID><Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">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.</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">We evaluated 5 patients with cortical myoclonus, ataxia, and areflexia.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">All 5 patients had the same homozygous mutation in GOSR2. Here we present their clinical and neurophysiological data. Our patients (aged 7-26 years) all originated from the northern Netherlands and showed a remarkably homogeneous phenotype. Myoclonus and ataxia were relentlessly progressive over the years. Electromyography revealed signs of sensory neuronopathy or anterior horn cell involvement, or both, in all patients with absent reflexes.</AbstractText><AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">Based on the presented phenotype, we would advise movement disorder specialists to consider mutation analysis of GOSR2 in patients with Ramsay Hunt syndrome, especially when they also have areflexia.</AbstractText><CopyrightInformation>Copyright © 2013 Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>van Egmond</LastName><ForeName>Martje E</ForeName><Initials>ME</Initials><AffiliationInfo><Affiliation>Department of Neurology, University of Groningen, University Medical Center Groningen, The Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Verschuuren-Bemelmans</LastName><ForeName>Corien C</ForeName><Initials>CC</Initials></Author><Author ValidYN="Y"><LastName>Nibbeling</LastName><ForeName>Esther A</ForeName><Initials>EA</Initials></Author><Author ValidYN="Y"><LastName>Elting</LastName><ForeName>Jan Willem J</ForeName><Initials>JW</Initials></Author><Author ValidYN="Y"><LastName>Sival</LastName><ForeName>Deborah A</ForeName><Initials>DA</Initials></Author><Author ValidYN="Y"><LastName>Brouwer</LastName><ForeName>Oebele F</ForeName><Initials>OF</Initials></Author><Author ValidYN="Y"><LastName>de Vries</LastName><ForeName>Jeroen J</ForeName><Initials>JJ</Initials></Author><Author ValidYN="Y"><LastName>Kremer</LastName><ForeName>Hubertus P</ForeName><Initials>HP</Initials></Author><Author ValidYN="Y"><LastName>Sinke</LastName><ForeName>Richard J</ForeName><Initials>RJ</Initials></Author><Author ValidYN="Y"><LastName>Tijssen</LastName><ForeName>Marina A</ForeName><Initials>MA</Initials></Author><Author ValidYN="Y"><LastName>de Koning</LastName><ForeName>Tom J</ForeName><Initials>TJ</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2013</Year><Month>10</Month><Day>30</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C491344">GOSR2 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D050766">Qb-SNARE Proteins</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002648">Child</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D004252">DNA Mutational Analysis</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D018482">Muscle, Skeletal</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000503">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="Y" UI="D009154">Mutation</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002527">Myoclonic Cerebellar Dyssynergia</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="N" UI="Q000503">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009213">Myography</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010641">Phenotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D050766">Qb-SNARE Proteins</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D055815">Young Adult</DescriptorName></MeshHeading></MeshHeadingList><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">GOSR2 mutation</Keyword><Keyword MajorTopicYN="N">Ramsay Hunt</Keyword><Keyword MajorTopicYN="N">ataxia</Keyword><Keyword MajorTopicYN="N">myoclonus</Keyword><Keyword MajorTopicYN="N">progressive myoclonus ataxia</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2013</Year><Month>1</Month><Day>30</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2013</Year><Month>7</Month><Day>18</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2013</Year><Month>9</Month><Day>11</Day></PubMedPubDate><PubMedPubDate PubStatus="aheadofprint"><Year>2013</Year><Month>10</Month><Day>30</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2014</Year><Month>1</Month><Day>25</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2014</Year><Month>1</Month><Day>25</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2014</Year><Month>9</Month><Day>23</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.25704</ArticleId><ArticleId IdType="pubmed">24458321</ArticleId></ArticleIdList></PubmedData></pubmed><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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