MovDisordV3, PubMed, Corpus, bibRecord, 000571

Absence of C9ORF72 expanded or intermediate repeats in autopsy-confirmed Parkinson's disease.

Identifieur interne : 000571 ( PubMed/Corpus ); précédent : 000570; suivant : 000572

Absence of C9ORF72 expanded or intermediate repeats in autopsy-confirmed Parkinson's disease.

Auteurs : Karen Nuytemans ; Vanessa Inchausti ; Gary W. Beecham ; Liyong Wang ; Dennis W. Dickson ; John Q. Trojanowski ; Virginia M-Y Lee ; Deborah C. Mash ; Matthew P. Frosch ; Tatiana M. Foroud ; Lawrence S. Honig ; Thomas J. Montine ; Ted M. Dawson ; Eden R. Martin ; William K. Scott ; Jeffery M. Vance

Source :

Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2014.

RBID : pubmed:24573903

English descriptors

KwdEn :
- Autopsy (methods), Female, Genetic Predisposition to Disease (genetics), Genotype, Humans, Male, Parkinson Disease (diagnosis), Parkinson Disease (genetics), Proteins (genetics), Risk Factors, Trinucleotide Repeat Expansion (genetics).
MESH :
- chemical , genetics : Proteins.
- diagnosis : Parkinson Disease.
- genetics : Genetic Predisposition to Disease, Parkinson Disease, Trinucleotide Repeat Expansion.
- methods : Autopsy.
- Female, Genotype, Humans, Male, Risk Factors.

Abstract

We have reported that intermediate repeat lengths of the C9ORF72 repeat are a risk factor for Parkinson's disease (PD) in a clinically diagnosed data set. Because 10% to 25% of clinically diagnosed PD have different diagnoses upon autopsy, we hypothesized that this may reflect phenotypic heterogeneity or concomitant pathology of other neurodegenerative disorders.

DOI: 10.1002/mds.25838
PubMed: 24573903

Links to Exploration step

pubmed:24573903

Le document en format XML

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<author><name sortKey="Lee, Virginia M Y" sort="Lee, Virginia M Y" uniqKey="Lee V" first="Virginia M-Y" last="Lee">Virginia M-Y Lee</name>
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<author><name sortKey="Honig, Lawrence S" sort="Honig, Lawrence S" uniqKey="Honig L" first="Lawrence S" last="Honig">Lawrence S. Honig</name>
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<affiliation><nlm:affiliation>University of Miami, Miller School of Medicine, John P. Hussman Institute for Human Genomics, Miami, Florida, USA.</nlm:affiliation>
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<author><name sortKey="Inchausti, Vanessa" sort="Inchausti, Vanessa" uniqKey="Inchausti V" first="Vanessa" last="Inchausti">Vanessa Inchausti</name>
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<author><name sortKey="Beecham, Gary W" sort="Beecham, Gary W" uniqKey="Beecham G" first="Gary W" last="Beecham">Gary W. Beecham</name>
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<author><name sortKey="Wang, Liyong" sort="Wang, Liyong" uniqKey="Wang L" first="Liyong" last="Wang">Liyong Wang</name>
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<author><name sortKey="Dickson, Dennis W" sort="Dickson, Dennis W" uniqKey="Dickson D" first="Dennis W" last="Dickson">Dennis W. Dickson</name>
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<author><name sortKey="Trojanowski, John Q" sort="Trojanowski, John Q" uniqKey="Trojanowski J" first="John Q" last="Trojanowski">John Q. Trojanowski</name>
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<author><name sortKey="Lee, Virginia M Y" sort="Lee, Virginia M Y" uniqKey="Lee V" first="Virginia M-Y" last="Lee">Virginia M-Y Lee</name>
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<author><name sortKey="Mash, Deborah C" sort="Mash, Deborah C" uniqKey="Mash D" first="Deborah C" last="Mash">Deborah C. Mash</name>
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<author><name sortKey="Frosch, Matthew P" sort="Frosch, Matthew P" uniqKey="Frosch M" first="Matthew P" last="Frosch">Matthew P. Frosch</name>
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<author><name sortKey="Foroud, Tatiana M" sort="Foroud, Tatiana M" uniqKey="Foroud T" first="Tatiana M" last="Foroud">Tatiana M. Foroud</name>
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<author><name sortKey="Honig, Lawrence S" sort="Honig, Lawrence S" uniqKey="Honig L" first="Lawrence S" last="Honig">Lawrence S. Honig</name>
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<author><name sortKey="Montine, Thomas J" sort="Montine, Thomas J" uniqKey="Montine T" first="Thomas J" last="Montine">Thomas J. Montine</name>
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<author><name sortKey="Scott, William K" sort="Scott, William K" uniqKey="Scott W" first="William K" last="Scott">William K. Scott</name>
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<author><name sortKey="Vance, Jeffery M" sort="Vance, Jeffery M" uniqKey="Vance J" first="Jeffery M" last="Vance">Jeffery M. Vance</name>
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<term>Female</term>
<term>Genetic Predisposition to Disease (genetics)</term>
<term>Genotype</term>
<term>Humans</term>
<term>Male</term>
<term>Parkinson Disease (diagnosis)</term>
<term>Parkinson Disease (genetics)</term>
<term>Proteins (genetics)</term>
<term>Risk Factors</term>
<term>Trinucleotide Repeat Expansion (genetics)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Proteins</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Genetic Predisposition to Disease</term>
<term>Parkinson Disease</term>
<term>Trinucleotide Repeat Expansion</term>
</keywords>
<keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Autopsy</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Female</term>
<term>Genotype</term>
<term>Humans</term>
<term>Male</term>
<term>Risk Factors</term>
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<front><div type="abstract" xml:lang="en">We have reported that intermediate repeat lengths of the C9ORF72 repeat are a risk factor for Parkinson's disease (PD) in a clinically diagnosed data set. Because 10% to 25% of clinically diagnosed PD have different diagnoses upon autopsy, we hypothesized that this may reflect phenotypic heterogeneity or concomitant pathology of other neurodegenerative disorders.</div>
</front>
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<DateCreated><Year>2014</Year>
<Month>05</Month>
<Day>06</Day>
</DateCreated>
<DateCompleted><Year>2014</Year>
<Month>12</Month>
<Day>19</Day>
</DateCompleted>
<DateRevised><Year>2015</Year>
<Month>10</Month>
<Day>06</Day>
</DateRevised>
<Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN>
<JournalIssue CitedMedium="Internet"><Volume>29</Volume>
<Issue>6</Issue>
<PubDate><Year>2014</Year>
<Month>May</Month>
</PubDate>
</JournalIssue>
<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
</Journal>
<ArticleTitle>Absence of C9ORF72 expanded or intermediate repeats in autopsy-confirmed Parkinson's disease.</ArticleTitle>
<Pagination><MedlinePgn>827-30</MedlinePgn>
</Pagination>
<ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.25838</ELocationID>
<Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">We have reported that intermediate repeat lengths of the C9ORF72 repeat are a risk factor for Parkinson's disease (PD) in a clinically diagnosed data set. Because 10% to 25% of clinically diagnosed PD have different diagnoses upon autopsy, we hypothesized that this may reflect phenotypic heterogeneity or concomitant pathology of other neurodegenerative disorders.</AbstractText>
<AbstractText Label="METHODS" NlmCategory="METHODS">We screened 488 autopsy-confirmed PD cases for expansion haplotype tag rs3849942T. In 196 identified haplotype carriers, the C9ORF72 repeat was genotyped using the repeat-primed polymerase chain reaction assay.</AbstractText>
<AbstractText Label="RESULTS" NlmCategory="RESULTS">No larger (intermediate or expanded) repeats were found in these autopsy-confirmed PD samples. This absence of larger repeats is significantly different from the frequency in clinically diagnosed datasets (P = 0.002).</AbstractText>
<AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">Our results suggest that expanded or intermediate C9ORF72 repeats in clinically diagnosed PD or parkinsonism might be an indication of heterogeneity in clinically diagnosed PD cases. Further studies are needed to elucidate the potential contribution of the C9ORF72 repeat to autopsy-confirmed PD.</AbstractText>
<CopyrightInformation>© 2014 International Parkinson and Movement Disorder Society.</CopyrightInformation>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Nuytemans</LastName>
<ForeName>Karen</ForeName>
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<AffiliationInfo><Affiliation>University of Miami, Miller School of Medicine, John P. Hussman Institute for Human Genomics, Miami, Florida, USA.</Affiliation>
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<MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D001344">Autopsy</DescriptorName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D019680">Trinucleotide Repeat Expansion</DescriptorName>
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<KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">C9ORF72 repeat</Keyword>
<Keyword MajorTopicYN="N">Parkinson's disease</Keyword>
<Keyword MajorTopicYN="N">autopsy confirmed</Keyword>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Absence of C9ORF72 expanded or intermediate repeats in autopsy-confirmed Parkinson's disease.

Absence of C9ORF72 expanded or intermediate repeats in autopsy-confirmed Parkinson's disease.

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