Are interrupted SCA2 CAG repeat expansions responsible for parkinsonism?
Identifieur interne : 000D43 ( PubMed/Corpus ); précédent : 000D42; suivant : 000D44Are interrupted SCA2 CAG repeat expansions responsible for parkinsonism?
Auteurs : P. Charles ; A. Camuzat ; N. Benammar ; F. Sellal ; A. Destée ; A-M Bonnet ; S. Lesage ; I. Le Ber ; G. Stevanin ; A. Dürr ; A. BriceSource :
- Neurology [ 1526-632X ] ; 2007.
English descriptors
- KwdEn :
- Aged, Ataxins, DNA Repeat Expansion (genetics), Female, France (epidemiology), Genetic Predisposition to Disease (genetics), Heterozygote, Humans, Male, Middle Aged, Nerve Tissue Proteins (genetics), Parkinson Disease (epidemiology), Parkinson Disease (genetics), Pedigree, Polymorphism, Single Nucleotide (genetics), Prevalence, Repetitive Sequences, Nucleic Acid (genetics), Risk Assessment (methods), Risk Factors.
- MESH :
- chemical , genetics : Nerve Tissue Proteins.
- chemical : Ataxins.
- geographic , epidemiology : France.
- epidemiology : Parkinson Disease.
- genetics : DNA Repeat Expansion, Genetic Predisposition to Disease, Parkinson Disease, Polymorphism, Single Nucleotide, Repetitive Sequences, Nucleic Acid.
- methods : Risk Assessment.
- Aged, Female, Heterozygote, Humans, Male, Middle Aged, Pedigree, Prevalence, Risk Factors.
Abstract
Autosomal dominant parkinsonism (ADP) is caused in a large percentage of familial and sporadic cases by mutations in the LRRK2 gene, particularly G2019S. It is also caused by mutations in genes associated with autosomal dominant cerebellar ataxia (ADCA), notably CAG/CAA repeat expansions in SCA2.
DOI: 10.1212/01.wnl.0000269323.21969.db
PubMed: 17568014
Links to Exploration step
pubmed:17568014Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Are interrupted SCA2 CAG repeat expansions responsible for parkinsonism?</title><author><name sortKey="Charles, P" sort="Charles, P" uniqKey="Charles P" first="P" last="Charles">P. Charles</name><affiliation><nlm:affiliation>AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Department of Genetics and Cytogenetics, Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Camuzat, A" sort="Camuzat, A" uniqKey="Camuzat A" first="A" last="Camuzat">A. Camuzat</name></author><author><name sortKey="Benammar, N" sort="Benammar, N" uniqKey="Benammar N" first="N" last="Benammar">N. Benammar</name></author><author><name sortKey="Sellal, F" sort="Sellal, F" uniqKey="Sellal F" first="F" last="Sellal">F. Sellal</name></author><author><name sortKey="Destee, A" sort="Destee, A" uniqKey="Destee A" first="A" last="Destée">A. Destée</name></author><author><name sortKey="Bonnet, A M" sort="Bonnet, A M" uniqKey="Bonnet A" first="A-M" last="Bonnet">A-M Bonnet</name></author><author><name sortKey="Lesage, S" sort="Lesage, S" uniqKey="Lesage S" first="S" last="Lesage">S. Lesage</name></author><author><name sortKey="Le Ber, I" sort="Le Ber, I" uniqKey="Le Ber I" first="I" last="Le Ber">I. Le Ber</name></author><author><name sortKey="Stevanin, G" sort="Stevanin, G" uniqKey="Stevanin G" first="G" last="Stevanin">G. Stevanin</name></author><author><name sortKey="Durr, A" sort="Durr, A" uniqKey="Durr A" first="A" last="Dürr">A. Dürr</name></author><author><name sortKey="Brice, A" sort="Brice, A" uniqKey="Brice A" first="A" last="Brice">A. Brice</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2007">2007</date><idno type="RBID">pubmed:17568014</idno><idno type="pmid">17568014</idno><idno type="doi">10.1212/01.wnl.0000269323.21969.db</idno><idno type="wicri:Area/PubMed/Corpus">000D43</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000D43</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Are interrupted SCA2 CAG repeat expansions responsible for parkinsonism?</title><author><name sortKey="Charles, P" sort="Charles, P" uniqKey="Charles P" first="P" last="Charles">P. Charles</name><affiliation><nlm:affiliation>AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Department of Genetics and Cytogenetics, Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Camuzat, A" sort="Camuzat, A" uniqKey="Camuzat A" first="A" last="Camuzat">A. Camuzat</name></author><author><name sortKey="Benammar, N" sort="Benammar, N" uniqKey="Benammar N" first="N" last="Benammar">N. Benammar</name></author><author><name sortKey="Sellal, F" sort="Sellal, F" uniqKey="Sellal F" first="F" last="Sellal">F. Sellal</name></author><author><name sortKey="Destee, A" sort="Destee, A" uniqKey="Destee A" first="A" last="Destée">A. Destée</name></author><author><name sortKey="Bonnet, A M" sort="Bonnet, A M" uniqKey="Bonnet A" first="A-M" last="Bonnet">A-M Bonnet</name></author><author><name sortKey="Lesage, S" sort="Lesage, S" uniqKey="Lesage S" first="S" last="Lesage">S. Lesage</name></author><author><name sortKey="Le Ber, I" sort="Le Ber, I" uniqKey="Le Ber I" first="I" last="Le Ber">I. Le Ber</name></author><author><name sortKey="Stevanin, G" sort="Stevanin, G" uniqKey="Stevanin G" first="G" last="Stevanin">G. Stevanin</name></author><author><name sortKey="Durr, A" sort="Durr, A" uniqKey="Durr A" first="A" last="Dürr">A. Dürr</name></author><author><name sortKey="Brice, A" sort="Brice, A" uniqKey="Brice A" first="A" last="Brice">A. Brice</name></author></analytic><series><title level="j">Neurology</title><idno type="eISSN">1526-632X</idno><imprint><date when="2007" type="published">2007</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aged</term><term>Ataxins</term><term>DNA Repeat Expansion (genetics)</term><term>Female</term><term>France (epidemiology)</term><term>Genetic Predisposition to Disease (genetics)</term><term>Heterozygote</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Nerve Tissue Proteins (genetics)</term><term>Parkinson Disease (epidemiology)</term><term>Parkinson Disease (genetics)</term><term>Pedigree</term><term>Polymorphism, Single Nucleotide (genetics)</term><term>Prevalence</term><term>Repetitive Sequences, Nucleic Acid (genetics)</term><term>Risk Assessment (methods)</term><term>Risk Factors</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Nerve Tissue Proteins</term></keywords><keywords scheme="MESH" type="chemical" xml:lang="en"><term>Ataxins</term></keywords><keywords scheme="MESH" type="geographic" qualifier="epidemiology" xml:lang="en"><term>France</term></keywords><keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>DNA Repeat Expansion</term><term>Genetic Predisposition to Disease</term><term>Parkinson Disease</term><term>Polymorphism, Single Nucleotide</term><term>Repetitive Sequences, Nucleic Acid</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Risk Assessment</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Aged</term><term>Female</term><term>Heterozygote</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Pedigree</term><term>Prevalence</term><term>Risk Factors</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Autosomal dominant parkinsonism (ADP) is caused in a large percentage of familial and sporadic cases by mutations in the LRRK2 gene, particularly G2019S. It is also caused by mutations in genes associated with autosomal dominant cerebellar ataxia (ADCA), notably CAG/CAA repeat expansions in SCA2.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">17568014</PMID><DateCreated><Year>2007</Year><Month>11</Month><Day>20</Day></DateCreated><DateCompleted><Year>2007</Year><Month>12</Month><Day>12</Day></DateCompleted><DateRevised><Year>2015</Year><Month>11</Month><Day>19</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1526-632X</ISSN><JournalIssue CitedMedium="Internet"><Volume>69</Volume><Issue>21</Issue><PubDate><Year>2007</Year><Month>Nov</Month><Day>20</Day></PubDate></JournalIssue><Title>Neurology</Title><ISOAbbreviation>Neurology</ISOAbbreviation></Journal><ArticleTitle>Are interrupted SCA2 CAG repeat expansions responsible for parkinsonism?</ArticleTitle><Pagination><MedlinePgn>1970-5</MedlinePgn></Pagination><Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Autosomal dominant parkinsonism (ADP) is caused in a large percentage of familial and sporadic cases by mutations in the LRRK2 gene, particularly G2019S. It is also caused by mutations in genes associated with autosomal dominant cerebellar ataxia (ADCA), notably CAG/CAA repeat expansions in SCA2.</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">We screened 164 families with ADP for expansions in the SCA2, 3, and 17 genes and for the G2019S mutation in LRRK2. The SCA2 CAG/CAA repeat expansion was sequenced to determine its structure. The phenotypes of patients with ADP caused by the SCA2, LRRK2, and unknown mutations were compared, as well as those of SCA2 patients with interrupted or uninterrupted expansions of the same size.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">Three French ADP families had SCA2 mutations. The expansions ranged from 37 to 39 repeats and were interrupted and stable upon transmission. All patients (n = 9) had levodopa-responsive parkinsonism without cerebellar signs. They had significantly more symmetric signs and less rigidity than ADP caused by the G2019S mutation in LRRK2 or by unknown mutations. Interestingly, two sisters carrying both the SCA2 and the G2019S LRRK2 mutations had markedly earlier onset than their mother with only SCA2. In contrast, similar-sized but uninterrupted repeats were associated with ADCA in which cerebellar ataxia was constant and associated only rarely with one or more mild parkinsonian signs.</AbstractText><AbstractText Label="CONCLUSION" NlmCategory="CONCLUSIONS">These results suggest that the configuration of the SCA2 CAG/CAA repeat expansions plays an important role in phenotype variability. Uninterrupted SCA2 repeat expansions found in families with autosomal dominant cerebellar ataxia result in somatic mosaicism and produce large hairpin RNAs, which may interact with double-stranded RNA-binding proteins. These characteristics are modified by interruption of the SCA2 repeat expansion as found in families with autosomal dominant parkinsonism.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Charles</LastName><ForeName>P</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Department of Genetics and Cytogenetics, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Camuzat</LastName><ForeName>A</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Benammar</LastName><ForeName>N</ForeName><Initials>N</Initials></Author><Author ValidYN="Y"><LastName>Sellal</LastName><ForeName>F</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Destée</LastName><ForeName>A</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Bonnet</LastName><ForeName>A-M</ForeName><Initials>AM</Initials></Author><Author ValidYN="Y"><LastName>Lesage</LastName><ForeName>S</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Le Ber</LastName><ForeName>I</ForeName><Initials>I</Initials></Author><Author ValidYN="Y"><LastName>Stevanin</LastName><ForeName>G</ForeName><Initials>G</Initials></Author><Author ValidYN="Y"><LastName>Dürr</LastName><ForeName>A</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Brice</LastName><ForeName>A</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><CollectiveName>French Parkinson's Disease Genetic Study Group</CollectiveName></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>2007</Year><Month>06</Month><Day>13</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Neurology</MedlineTA><NlmUniqueID>0401060</NlmUniqueID><ISSNLinking>0028-3878</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D000067528">Ataxins</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D009419">Nerve Tissue Proteins</NameOfSubstance></Chemical></ChemicalList><CitationSubset>AIM</CitationSubset><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000368" MajorTopicYN="N">Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000067528" MajorTopicYN="N">Ataxins</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D042622" MajorTopicYN="N">DNA Repeat Expansion</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005602" MajorTopicYN="N" Type="Geographic">France</DescriptorName><QualifierName UI="Q000453" MajorTopicYN="N">epidemiology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D020022" MajorTopicYN="N">Genetic Predisposition to Disease</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D006579" MajorTopicYN="N">Heterozygote</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008875" MajorTopicYN="N">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009419" MajorTopicYN="N">Nerve Tissue Proteins</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D010300" MajorTopicYN="N">Parkinson Disease</DescriptorName><QualifierName UI="Q000453" MajorTopicYN="Y">epidemiology</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D010375" MajorTopicYN="N">Pedigree</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D020641" MajorTopicYN="N">Polymorphism, Single Nucleotide</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D015995" MajorTopicYN="N">Prevalence</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D012091" MajorTopicYN="N">Repetitive Sequences, Nucleic Acid</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D018570" MajorTopicYN="N">Risk Assessment</DescriptorName><QualifierName UI="Q000379" MajorTopicYN="Y">methods</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D012307" MajorTopicYN="N">Risk Factors</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2007</Year><Month>6</Month><Day>15</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2007</Year><Month>12</Month><Day>13</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2007</Year><Month>6</Month><Day>15</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">17568014</ArticleId><ArticleId IdType="pii">01.wnl.0000269323.21969.db</ArticleId><ArticleId IdType="doi">10.1212/01.wnl.0000269323.21969.db</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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