Subtle rapid eye movement sleep abnormalities in presymptomatic spinocerebellar ataxia type 2 gene carriers.
Identifieur interne : 001080 ( PubMed/Checkpoint ); précédent : 001079; suivant : 001081Subtle rapid eye movement sleep abnormalities in presymptomatic spinocerebellar ataxia type 2 gene carriers.
Auteurs : Roberto Rodríguez-Labrada [Cuba] ; Luis Velázquez-Perez ; Nalia Canales Ochoa ; Lourdes Galicia Polo ; Reyes Haro Valencia ; Gilberto Sánchez Cruz ; Jacqueline Medrano Montero ; José M. Laffita-Mesa ; Luis E Almaguer Mederos ; Yanetza González Zaldívar ; Cira Torres Parra ; Arnoy Pe A Acosta ; Tania Cruz Mari OSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2011.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Nerve Tissue Proteins.
- genetics : Sleep, REM, Spinocerebellar Ataxias.
- physiopathology : Spinocerebellar Ataxias.
- Adolescent, Adult, Female, Heterozygote, Humans, Male, Middle Aged, Polysomnography, Questionnaires.
Abstract
Rapid eye movement (REM) sleep disorders are commonly associated to patients with spinocerebellar ataxia type 2 (SCA2); however, these abnormalities have not been studied in presymptomatic gene carriers. To determine whether the REM sleep pathology is detectable before clinical manifestation of SCA2 and evaluate it as a preclinical biomarker, we studied 36 presymptomatic SCA2 individuals and 36 controls by video-polysomnography (VPSG) and sleep questionnaires. Presymptomatic subjects showed significant decrease of REM sleep percentage, REMs density, total sleep time, and sleep efficiency. Aging effect on REM sleep percentage was significant in both groups. There was no correlation between cytosine-adenine-guanine (CAG) repeat length and REM sleep. Our findings identified the REM sleep pathology as a prominent herald sign of SCA2, conferring a special importance to VPSG as a sensitive neurophysiological tool to detect early changes associated with SCA2, which contributes to the understanding of disease pathophysiology and the development of therapeutic trials focused on the preclinical disease stage.
DOI: 10.1002/mds.23409
PubMed: 20960485
Affiliations:
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Laffita-Mesa</name></author><author><name sortKey="Mederos, Luis E Almaguer" sort="Mederos, Luis E Almaguer" uniqKey="Mederos L" first="Luis E Almaguer" last="Mederos">Luis E Almaguer Mederos</name></author><author><name sortKey="Zaldivar, Yanetza Gonzalez" sort="Zaldivar, Yanetza Gonzalez" uniqKey="Zaldivar Y" first="Yanetza González" last="Zaldívar">Yanetza González Zaldívar</name></author><author><name sortKey="Parra, Cira Torres" sort="Parra, Cira Torres" uniqKey="Parra C" first="Cira Torres" last="Parra">Cira Torres Parra</name></author><author><name sortKey="Acosta, Arnoy Pe A" sort="Acosta, Arnoy Pe A" uniqKey="Acosta A" first="Arnoy Pe A" last="Acosta">Arnoy Pe A Acosta</name></author><author><name sortKey="Mari O, Tania Cruz" sort="Mari O, Tania Cruz" uniqKey="Mari O T" first="Tania Cruz" last="Mari O">Tania Cruz Mari O</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2011">2011</date><idno type="doi">10.1002/mds.23409</idno><idno type="RBID">pubmed:20960485</idno><idno type="pmid">20960485</idno><idno type="wicri:Area/PubMed/Corpus">001495</idno><idno type="wicri:Area/PubMed/Curation">001495</idno><idno type="wicri:Area/PubMed/Checkpoint">001080</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Subtle rapid eye movement sleep abnormalities in presymptomatic spinocerebellar ataxia type 2 gene carriers.</title><author><name sortKey="Rodriguez Labrada, Roberto" sort="Rodriguez Labrada, Roberto" uniqKey="Rodriguez Labrada R" first="Roberto" last="Rodríguez-Labrada">Roberto Rodríguez-Labrada</name><affiliation wicri:level="1"><nlm:affiliation>Centre for the Research and Rehabilitation of Hereditary Ataxias, Holguín, Cuba.</nlm:affiliation><country xml:lang="fr">Cuba</country><wicri:regionArea>Centre for the Research and Rehabilitation of Hereditary Ataxias, Holguín</wicri:regionArea><wicri:noRegion>Holguín</wicri:noRegion></affiliation></author><author><name sortKey="Velazquez Perez, Luis" sort="Velazquez Perez, Luis" uniqKey="Velazquez Perez L" first="Luis" last="Velázquez-Perez">Luis Velázquez-Perez</name></author><author><name sortKey="Ochoa, Nalia Canales" sort="Ochoa, Nalia Canales" uniqKey="Ochoa N" first="Nalia Canales" last="Ochoa">Nalia Canales Ochoa</name></author><author><name sortKey="Polo, Lourdes Galicia" sort="Polo, Lourdes Galicia" uniqKey="Polo L" first="Lourdes Galicia" last="Polo">Lourdes Galicia Polo</name></author><author><name sortKey="Valencia, Reyes Haro" sort="Valencia, Reyes Haro" uniqKey="Valencia R" first="Reyes Haro" last="Valencia">Reyes Haro Valencia</name></author><author><name sortKey="Cruz, Gilberto Sanchez" sort="Cruz, Gilberto Sanchez" uniqKey="Cruz G" first="Gilberto Sánchez" last="Cruz">Gilberto Sánchez Cruz</name></author><author><name sortKey="Montero, Jacqueline Medrano" sort="Montero, Jacqueline Medrano" uniqKey="Montero J" first="Jacqueline Medrano" last="Montero">Jacqueline Medrano Montero</name></author><author><name sortKey="Laffita Mesa, Jose M" sort="Laffita Mesa, Jose M" uniqKey="Laffita Mesa J" first="José M" last="Laffita-Mesa">José M. Laffita-Mesa</name></author><author><name sortKey="Mederos, Luis E Almaguer" sort="Mederos, Luis E Almaguer" uniqKey="Mederos L" first="Luis E Almaguer" last="Mederos">Luis E Almaguer Mederos</name></author><author><name sortKey="Zaldivar, Yanetza Gonzalez" sort="Zaldivar, Yanetza Gonzalez" uniqKey="Zaldivar Y" first="Yanetza González" last="Zaldívar">Yanetza González Zaldívar</name></author><author><name sortKey="Parra, Cira Torres" sort="Parra, Cira Torres" uniqKey="Parra C" first="Cira Torres" last="Parra">Cira Torres Parra</name></author><author><name sortKey="Acosta, Arnoy Pe A" sort="Acosta, Arnoy Pe A" uniqKey="Acosta A" first="Arnoy Pe A" last="Acosta">Arnoy Pe A Acosta</name></author><author><name sortKey="Mari O, Tania Cruz" sort="Mari O, Tania Cruz" uniqKey="Mari O T" first="Tania Cruz" last="Mari O">Tania Cruz Mari O</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="2011" type="published">2011</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Female</term><term>Heterozygote</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Nerve Tissue Proteins (genetics)</term><term>Polysomnography</term><term>Questionnaires</term><term>Sleep, REM (genetics)</term><term>Spinocerebellar Ataxias (genetics)</term><term>Spinocerebellar Ataxias (physiopathology)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Nerve Tissue Proteins</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Sleep, REM</term><term>Spinocerebellar Ataxias</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Spinocerebellar Ataxias</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Female</term><term>Heterozygote</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Polysomnography</term><term>Questionnaires</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Rapid eye movement (REM) sleep disorders are commonly associated to patients with spinocerebellar ataxia type 2 (SCA2); however, these abnormalities have not been studied in presymptomatic gene carriers. To determine whether the REM sleep pathology is detectable before clinical manifestation of SCA2 and evaluate it as a preclinical biomarker, we studied 36 presymptomatic SCA2 individuals and 36 controls by video-polysomnography (VPSG) and sleep questionnaires. Presymptomatic subjects showed significant decrease of REM sleep percentage, REMs density, total sleep time, and sleep efficiency. Aging effect on REM sleep percentage was significant in both groups. There was no correlation between cytosine-adenine-guanine (CAG) repeat length and REM sleep. Our findings identified the REM sleep pathology as a prominent herald sign of SCA2, conferring a special importance to VPSG as a sensitive neurophysiological tool to detect early changes associated with SCA2, which contributes to the understanding of disease pathophysiology and the development of therapeutic trials focused on the preclinical disease stage.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">20960485</PMID><DateCreated><Year>2011</Year><Month>03</Month><Day>17</Day></DateCreated><DateCompleted><Year>2011</Year><Month>07</Month><Day>25</Day></DateCompleted><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>26</Volume><Issue>2</Issue><PubDate><Year>2011</Year><Month>Feb</Month><Day>1</Day></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Subtle rapid eye movement sleep abnormalities in presymptomatic spinocerebellar ataxia type 2 gene carriers.</ArticleTitle><Pagination><MedlinePgn>347-50</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.23409</ELocationID><Abstract><AbstractText>Rapid eye movement (REM) sleep disorders are commonly associated to patients with spinocerebellar ataxia type 2 (SCA2); however, these abnormalities have not been studied in presymptomatic gene carriers. To determine whether the REM sleep pathology is detectable before clinical manifestation of SCA2 and evaluate it as a preclinical biomarker, we studied 36 presymptomatic SCA2 individuals and 36 controls by video-polysomnography (VPSG) and sleep questionnaires. Presymptomatic subjects showed significant decrease of REM sleep percentage, REMs density, total sleep time, and sleep efficiency. Aging effect on REM sleep percentage was significant in both groups. There was no correlation between cytosine-adenine-guanine (CAG) repeat length and REM sleep. Our findings identified the REM sleep pathology as a prominent herald sign of SCA2, conferring a special importance to VPSG as a sensitive neurophysiological tool to detect early changes associated with SCA2, which contributes to the understanding of disease pathophysiology and the development of therapeutic trials focused on the preclinical disease stage.</AbstractText><CopyrightInformation>Copyright © 2010 Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Rodríguez-Labrada</LastName><ForeName>Roberto</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Centre for the Research and Rehabilitation of Hereditary Ataxias, Holguín, Cuba.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Velázquez-Perez</LastName><ForeName>Luis</ForeName><Initials>L</Initials></Author><Author ValidYN="Y"><LastName>Ochoa</LastName><ForeName>Nalia Canales</ForeName><Initials>NC</Initials></Author><Author ValidYN="Y"><LastName>Polo</LastName><ForeName>Lourdes Galicia</ForeName><Initials>LG</Initials></Author><Author ValidYN="Y"><LastName>Valencia</LastName><ForeName>Reyes Haro</ForeName><Initials>RH</Initials></Author><Author ValidYN="Y"><LastName>Cruz</LastName><ForeName>Gilberto Sánchez</ForeName><Initials>GS</Initials></Author><Author ValidYN="Y"><LastName>Montero</LastName><ForeName>Jacqueline Medrano</ForeName><Initials>JM</Initials></Author><Author ValidYN="Y"><LastName>Laffita-Mesa</LastName><ForeName>José M</ForeName><Initials>JM</Initials></Author><Author ValidYN="Y"><LastName>Mederos</LastName><ForeName>Luis E Almaguer</ForeName><Initials>LE</Initials></Author><Author ValidYN="Y"><LastName>Zaldívar</LastName><ForeName>Yanetza González</ForeName><Initials>YG</Initials></Author><Author ValidYN="Y"><LastName>Parra</LastName><ForeName>Cira Torres</ForeName><Initials>CT</Initials></Author><Author ValidYN="Y"><LastName>Acosta</LastName><ForeName>Arnoy Peña</ForeName><Initials>AP</Initials></Author><Author ValidYN="Y"><LastName>Mariño</LastName><ForeName>Tania Cruz</ForeName><Initials>TC</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2010</Year><Month>10</Month><Day>19</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="D009419">Nerve Tissue Proteins</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C102158">SCA2 protein</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000293">Adolescent</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006579">Heterozygote</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="D008875">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009419">Nerve Tissue Proteins</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D017286">Polysomnography</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D011795">Questionnaires</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D012895">Sleep, REM</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020754">Spinocerebellar Ataxias</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000503">physiopathology</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2010</Year><Month>3</Month><Day>25</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2010</Year><Month>6</Month><Day>3</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2010</Year><Month>7</Month><Day>23</Day></PubMedPubDate><PubMedPubDate PubStatus="aheadofprint"><Year>2010</Year><Month>10</Month><Day>19</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2010</Year><Month>10</Month><Day>21</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2010</Year><Month>10</Month><Day>21</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2011</Year><Month>7</Month><Day>26</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.23409</ArticleId><ArticleId IdType="pubmed">20960485</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Cuba</li></country></list><tree><noCountry><name sortKey="Acosta, Arnoy Pe A" sort="Acosta, Arnoy Pe A" uniqKey="Acosta A" first="Arnoy Pe A" last="Acosta">Arnoy Pe A Acosta</name><name sortKey="Cruz, Gilberto Sanchez" sort="Cruz, Gilberto Sanchez" uniqKey="Cruz G" first="Gilberto Sánchez" last="Cruz">Gilberto Sánchez Cruz</name><name sortKey="Laffita Mesa, Jose M" sort="Laffita Mesa, Jose M" uniqKey="Laffita Mesa J" first="José M" last="Laffita-Mesa">José M. Laffita-Mesa</name><name sortKey="Mari O, Tania Cruz" sort="Mari O, Tania Cruz" uniqKey="Mari O T" first="Tania Cruz" last="Mari O">Tania Cruz Mari O</name><name sortKey="Mederos, Luis E Almaguer" sort="Mederos, Luis E Almaguer" uniqKey="Mederos L" first="Luis E Almaguer" last="Mederos">Luis E Almaguer Mederos</name><name sortKey="Montero, Jacqueline Medrano" sort="Montero, Jacqueline Medrano" uniqKey="Montero J" first="Jacqueline Medrano" last="Montero">Jacqueline Medrano Montero</name><name sortKey="Ochoa, Nalia Canales" sort="Ochoa, Nalia Canales" uniqKey="Ochoa N" first="Nalia Canales" last="Ochoa">Nalia Canales Ochoa</name><name sortKey="Parra, Cira Torres" sort="Parra, Cira Torres" uniqKey="Parra C" first="Cira Torres" last="Parra">Cira Torres Parra</name><name sortKey="Polo, Lourdes Galicia" sort="Polo, Lourdes Galicia" uniqKey="Polo L" first="Lourdes Galicia" last="Polo">Lourdes Galicia Polo</name><name sortKey="Valencia, Reyes Haro" sort="Valencia, Reyes Haro" uniqKey="Valencia R" first="Reyes Haro" last="Valencia">Reyes Haro Valencia</name><name sortKey="Velazquez Perez, Luis" sort="Velazquez Perez, Luis" uniqKey="Velazquez Perez L" first="Luis" last="Velázquez-Perez">Luis Velázquez-Perez</name><name sortKey="Zaldivar, Yanetza Gonzalez" sort="Zaldivar, Yanetza Gonzalez" uniqKey="Zaldivar Y" first="Yanetza González" last="Zaldívar">Yanetza González Zaldívar</name></noCountry><country name="Cuba"><noRegion><name sortKey="Rodriguez Labrada, Roberto" sort="Rodriguez Labrada, Roberto" uniqKey="Rodriguez Labrada R" first="Roberto" last="Rodríguez-Labrada">Roberto Rodríguez-Labrada</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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