Analysis of ERDA1, CTG18.1, and uncloned CAG/CTG repeat sequences in familial Parkinson's disease with anticipation.
Identifieur interne : 001317 ( PubMed/Curation ); précédent : 001316; suivant : 001318Analysis of ERDA1, CTG18.1, and uncloned CAG/CTG repeat sequences in familial Parkinson's disease with anticipation.
Auteurs : S. Schraen-Maschke [France] ; S. Brique ; M C Chartier-Harlin ; E. Brique ; A. Destée ; B. SablonnièreSource :
- American journal of medical genetics [ 0148-7299 ] ; 1999.
English descriptors
- KwdEn :
- Adult, Age of Onset, Aged, Aged, 80 and over, Anticipation, Genetic, Cloning, Molecular, Cohort Studies, DNA Mutational Analysis, Family Health, Female, Genetic Predisposition to Disease, Humans, Male, Middle Aged, Mutation (genetics), Nerve Tissue Proteins (genetics), Parkinson Disease (epidemiology), Parkinson Disease (genetics), Synucleins, Trinucleotide Repeat Expansion (genetics), Trinucleotide Repeats (genetics).
- MESH :
- chemical , genetics : Nerve Tissue Proteins.
- epidemiology : Parkinson Disease.
- genetics : Mutation, Parkinson Disease, Trinucleotide Repeat Expansion, Trinucleotide Repeats.
- Adult, Age of Onset, Aged, Aged, 80 and over, Anticipation, Genetic, Cloning, Molecular, Cohort Studies, DNA Mutational Analysis, Family Health, Female, Genetic Predisposition to Disease, Humans, Male, Middle Aged, Synucleins.
Abstract
In several neurodegenerative diseases, anticipation or increase in disease severity in succeeding generations within families correlates with expansions of an intragenic CAG/CTG repeat sequence above the normal range through the generations of a pedigree. Some kindreds of familial Parkinson's disease (PD) exhibit genetic anticipation. We used the repeat expansion detection (RED) method to detect repeat expansions directly in DNA samples from the index cases of 34 different PD families with anticipation. The mean age at onset of the younger probands was 48.8 +/- 10.8 years and the mean intergenerational difference was 19.2 +/- 10 years. The distribution of the RED products greater than 40 repeats was not significantly different between patients and controls with the Mann-Whitney U test (U = 510.5, p = 0.67). The samples were then screened for the two expanded-repeat loci, ERDA1 and CTG18.1. We found that in all cases the repeat expansion detected by the RED method may be accounted for by an expansion at these loci. Our results demonstrate that unstable CAG/CTG expansions corresponding to uncloned or cloned sequences (ERDA1, CTG18.1) are not involved in the etiology of rare familial case of PD with genetic anticipation. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 88:738-741, 1999
PubMed: 10581499
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Brique</name></author><author><name sortKey="Chartier Harlin, M C" sort="Chartier Harlin, M C" uniqKey="Chartier Harlin M" first="M C" last="Chartier-Harlin">M C Chartier-Harlin</name></author><author><name sortKey="Brique, E" sort="Brique, E" uniqKey="Brique E" first="E" last="Brique">E. Brique</name></author><author><name sortKey="Destee, A" sort="Destee, A" uniqKey="Destee A" first="A" last="Destée">A. Destée</name></author><author><name sortKey="Sablonniere, B" sort="Sablonniere, B" uniqKey="Sablonniere B" first="B" last="Sablonnière">B. 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Salengro, Lille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>UF de Neurobiologie, Laboratoire de Biochimie et de Biologie Moléculaire, Hôpital R. Salengro, Lille</wicri:regionArea></affiliation></author><author><name sortKey="Brique, S" sort="Brique, S" uniqKey="Brique S" first="S" last="Brique">S. Brique</name></author><author><name sortKey="Chartier Harlin, M C" sort="Chartier Harlin, M C" uniqKey="Chartier Harlin M" first="M C" last="Chartier-Harlin">M C Chartier-Harlin</name></author><author><name sortKey="Brique, E" sort="Brique, E" uniqKey="Brique E" first="E" last="Brique">E. Brique</name></author><author><name sortKey="Destee, A" sort="Destee, A" uniqKey="Destee A" first="A" last="Destée">A. Destée</name></author><author><name sortKey="Sablonniere, B" sort="Sablonniere, B" uniqKey="Sablonniere B" first="B" last="Sablonnière">B. Sablonnière</name></author></analytic><series><title level="j">American journal of medical genetics</title><idno type="ISSN">0148-7299</idno><imprint><date when="1999" type="published">1999</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Aged</term><term>Aged, 80 and over</term><term>Anticipation, Genetic</term><term>Cloning, Molecular</term><term>Cohort Studies</term><term>DNA Mutational Analysis</term><term>Family Health</term><term>Female</term><term>Genetic Predisposition to Disease</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Mutation (genetics)</term><term>Nerve Tissue Proteins (genetics)</term><term>Parkinson Disease (epidemiology)</term><term>Parkinson Disease (genetics)</term><term>Synucleins</term><term>Trinucleotide Repeat Expansion (genetics)</term><term>Trinucleotide Repeats (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Nerve Tissue Proteins</term></keywords><keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Mutation</term><term>Parkinson Disease</term><term>Trinucleotide Repeat Expansion</term><term>Trinucleotide Repeats</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Aged</term><term>Aged, 80 and over</term><term>Anticipation, Genetic</term><term>Cloning, Molecular</term><term>Cohort Studies</term><term>DNA Mutational Analysis</term><term>Family Health</term><term>Female</term><term>Genetic Predisposition to Disease</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Synucleins</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">In several neurodegenerative diseases, anticipation or increase in disease severity in succeeding generations within families correlates with expansions of an intragenic CAG/CTG repeat sequence above the normal range through the generations of a pedigree. Some kindreds of familial Parkinson's disease (PD) exhibit genetic anticipation. We used the repeat expansion detection (RED) method to detect repeat expansions directly in DNA samples from the index cases of 34 different PD families with anticipation. The mean age at onset of the younger probands was 48.8 +/- 10.8 years and the mean intergenerational difference was 19.2 +/- 10 years. The distribution of the RED products greater than 40 repeats was not significantly different between patients and controls with the Mann-Whitney U test (U = 510.5, p = 0.67). The samples were then screened for the two expanded-repeat loci, ERDA1 and CTG18.1. We found that in all cases the repeat expansion detected by the RED method may be accounted for by an expansion at these loci. Our results demonstrate that unstable CAG/CTG expansions corresponding to uncloned or cloned sequences (ERDA1, CTG18.1) are not involved in the etiology of rare familial case of PD with genetic anticipation. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 88:738-741, 1999</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">10581499</PMID><DateCreated><Year>2000</Year><Month>02</Month><Day>24</Day></DateCreated><DateCompleted><Year>2000</Year><Month>02</Month><Day>24</Day></DateCompleted><DateRevised><Year>2009</Year><Month>12</Month><Day>30</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0148-7299</ISSN><JournalIssue CitedMedium="Print"><Volume>88</Volume><Issue>6</Issue><PubDate><Year>1999</Year><Month>Dec</Month><Day>15</Day></PubDate></JournalIssue><Title>American journal of medical genetics</Title><ISOAbbreviation>Am. J. Med. Genet.</ISOAbbreviation></Journal><ArticleTitle>Analysis of ERDA1, CTG18.1, and uncloned CAG/CTG repeat sequences in familial Parkinson's disease with anticipation.</ArticleTitle><Pagination><MedlinePgn>738-41</MedlinePgn></Pagination><Abstract><AbstractText>In several neurodegenerative diseases, anticipation or increase in disease severity in succeeding generations within families correlates with expansions of an intragenic CAG/CTG repeat sequence above the normal range through the generations of a pedigree. Some kindreds of familial Parkinson's disease (PD) exhibit genetic anticipation. We used the repeat expansion detection (RED) method to detect repeat expansions directly in DNA samples from the index cases of 34 different PD families with anticipation. The mean age at onset of the younger probands was 48.8 +/- 10.8 years and the mean intergenerational difference was 19.2 +/- 10 years. The distribution of the RED products greater than 40 repeats was not significantly different between patients and controls with the Mann-Whitney U test (U = 510.5, p = 0.67). The samples were then screened for the two expanded-repeat loci, ERDA1 and CTG18.1. We found that in all cases the repeat expansion detected by the RED method may be accounted for by an expansion at these loci. Our results demonstrate that unstable CAG/CTG expansions corresponding to uncloned or cloned sequences (ERDA1, CTG18.1) are not involved in the etiology of rare familial case of PD with genetic anticipation. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 88:738-741, 1999</AbstractText><CopyrightInformation>Copyright 1999 Wiley-Liss, Inc.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Schraen-Maschke</LastName><ForeName>S</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>UF de Neurobiologie, Laboratoire de Biochimie et de Biologie Moléculaire, Hôpital R. Salengro, Lille, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Brique</LastName><ForeName>S</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Chartier-Harlin</LastName><ForeName>M C</ForeName><Initials>MC</Initials></Author><Author ValidYN="Y"><LastName>Brique</LastName><ForeName>E</ForeName><Initials>E</Initials></Author><Author ValidYN="Y"><LastName>Destée</LastName><ForeName>A</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Sablonnière</LastName><ForeName>B</ForeName><Initials>B</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></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Am J Med Genet</MedlineTA><NlmUniqueID>7708900</NlmUniqueID><ISSNLinking>0148-7299</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D009419">Nerve Tissue Proteins</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D051843">Synucleins</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000328" MajorTopicYN="N">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D017668" MajorTopicYN="N">Age of Onset</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000368" MajorTopicYN="N">Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000369" MajorTopicYN="N">Aged, 80 and over</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D020132" MajorTopicYN="Y">Anticipation, Genetic</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D003001" MajorTopicYN="Y">Cloning, Molecular</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D015331" MajorTopicYN="N">Cohort Studies</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D004252" MajorTopicYN="N">DNA Mutational Analysis</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005192" MajorTopicYN="N">Family Health</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D020022" MajorTopicYN="N">Genetic Predisposition to Disease</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="D009154" MajorTopicYN="N">Mutation</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D009419" MajorTopicYN="N">Nerve Tissue Proteins</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D010300" MajorTopicYN="N">Parkinson Disease</DescriptorName><QualifierName UI="Q000453" MajorTopicYN="N">epidemiology</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D051843" MajorTopicYN="N">Synucleins</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D019680" MajorTopicYN="N">Trinucleotide Repeat Expansion</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D018911" MajorTopicYN="N">Trinucleotide Repeats</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>1999</Year><Month>12</Month><Day>3</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2000</Year><Month>2</Month><Day>26</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>1999</Year><Month>12</Month><Day>3</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">10581499</ArticleId><ArticleId IdType="pii">10.1002/(SICI)1096-8628(19991215)88:6<738::AID-AJMG28>3.0.CO;2-M</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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