Absence of C9ORF72 expanded or intermediate repeats in autopsy confirmed Parkinson Disease
Identifieur interne : 000676 ( Main/Merge ); précédent : 000675; suivant : 000677Absence of C9ORF72 expanded or intermediate repeats in autopsy confirmed Parkinson Disease
Auteurs : Karen Nuytemans [États-Unis] ; Vanessa Inchausti [États-Unis] ; Gary W. Beecham [États-Unis] ; Liyong Wang [États-Unis] ; Dennis W. Dickson [États-Unis] ; John Q. Trojanowski [États-Unis] ; Virginia M.-Y. Lee [États-Unis] ; Deborah C. Mash [États-Unis] ; Matthew P. Frosch [États-Unis] ; Tatiana M. Foroud [États-Unis] ; Lawrence S. Honig [États-Unis] ; Thomas J. Montine [États-Unis] ; Ted M. Dawson [États-Unis] ; Eden R. Martin [États-Unis] ; William K. Scott [États-Unis] ; Jeffery M. Vance [États-Unis]Source :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2014.
English descriptors
- KwdEn :
- 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
We screened 488 autopsy-confirmed PD cases for the expansion haplotype tag, rs3849942T. In 196 identified haplotype carriers, the
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).
Our results suggest that expanded or intermediate
Url:
DOI: 10.1002/mds.25838
PubMed: 24573903
PubMed Central: 4022044
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PMC:4022044Le document en format XML
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expanded or intermediate repeats in autopsy confirmed Parkinson Disease</title>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Absence of <italic>C9ORF72</italic>
expanded or intermediate repeats in autopsy confirmed Parkinson Disease</title>
<author><name sortKey="Nuytemans, Karen" sort="Nuytemans, Karen" uniqKey="Nuytemans K" first="Karen" last="Nuytemans">Karen Nuytemans</name>
<affiliation wicri:level="1"><nlm:aff id="A1"> University of Miami, Miller School of Medicine, John P. Hussman Institute for Human Genomics, Biomedical Research building, 1501 NW 10<sup>th</sup>
Ave, Miami FL 33136, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea> Ave, Miami FL 33136</wicri:regionArea>
<wicri:noRegion>Miami FL 33136</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Inchausti, Vanessa" sort="Inchausti, Vanessa" uniqKey="Inchausti V" first="Vanessa" last="Inchausti">Vanessa Inchausti</name>
<affiliation wicri:level="1"><nlm:aff id="A1"> University of Miami, Miller School of Medicine, John P. Hussman Institute for Human Genomics, Biomedical Research building, 1501 NW 10<sup>th</sup>
Ave, Miami FL 33136, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea> Ave, Miami FL 33136</wicri:regionArea>
<wicri:noRegion>Miami FL 33136</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Beecham, Gary W" sort="Beecham, Gary W" uniqKey="Beecham G" first="Gary W." last="Beecham">Gary W. Beecham</name>
<affiliation wicri:level="1"><nlm:aff id="A1"> University of Miami, Miller School of Medicine, John P. Hussman Institute for Human Genomics, Biomedical Research building, 1501 NW 10<sup>th</sup>
Ave, Miami FL 33136, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea> Ave, Miami FL 33136</wicri:regionArea>
<wicri:noRegion>Miami FL 33136</wicri:noRegion>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A2"> University of Miami, Miller School of Medicine, Dr. John T. Macdonald Foundation Department of Human Genetics, Miami, FL 33136, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea> University of Miami, Miller School of Medicine, Dr. John T. Macdonald Foundation Department of Human Genetics, Miami, FL 33136</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Wang, Liyong" sort="Wang, Liyong" uniqKey="Wang L" first="Liyong" last="Wang">Liyong Wang</name>
<affiliation wicri:level="1"><nlm:aff id="A1"> University of Miami, Miller School of Medicine, John P. Hussman Institute for Human Genomics, Biomedical Research building, 1501 NW 10<sup>th</sup>
Ave, Miami FL 33136, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
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<country xml:lang="fr">États-Unis</country>
<wicri:regionArea> University of Miami, Miller School of Medicine, Dr. John T. Macdonald Foundation Department of Human Genetics, Miami, FL 33136</wicri:regionArea>
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</author>
<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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<country xml:lang="fr">États-Unis</country>
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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>
<affiliation wicri:level="2"><nlm:aff id="A4"> University of Pennsylvania, Department of Pathology & Laboratory Medicine, Perelman School of Medicine, Center for Neurodegenerative Disease Research, Philadelphia, PA 19104 USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Pennsylvanie</region>
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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>
<affiliation wicri:level="2"><nlm:aff id="A4"> University of Pennsylvania, Department of Pathology & Laboratory Medicine, Perelman School of Medicine, Center for Neurodegenerative Disease Research, Philadelphia, PA 19104 USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Pennsylvanie</region>
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<wicri:cityArea> University of Pennsylvania, Department of Pathology & Laboratory Medicine, Perelman School of Medicine, Center for Neurodegenerative Disease Research, Philadelphia</wicri:cityArea>
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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>
<affiliation wicri:level="2"><nlm:aff id="A5"> University of Miami, Miller School of Medicine, Brain Endowment Bank, Miami, FL 33136, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
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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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<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Massachusetts</region>
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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>
<affiliation wicri:level="2"><nlm:aff id="A7"> Indiana University School of Medicine, Department of Medical and Molecular Genetics, Indianapolis, IN 46202 USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Indiana</region>
</placeName>
<wicri:cityArea> Indiana University School of Medicine, Department of Medical and Molecular Genetics, Indianapolis</wicri:cityArea>
</affiliation>
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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>
<affiliation wicri:level="2"><nlm:aff id="A8"> Gertrude H. Sergievsky Center, Department of Neurology, and Taub Institute for Research on Alzheimer's Disease and the Aging Brain. New York, NY 10032 USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">État de New York</region>
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<wicri:cityArea> Gertrude H. Sergievsky Center, Department of Neurology, and Taub Institute for Research on Alzheimer's Disease and the Aging Brain. New York</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Montine, Thomas J" sort="Montine, Thomas J" uniqKey="Montine T" first="Thomas J." last="Montine">Thomas J. Montine</name>
<affiliation wicri:level="2"><nlm:aff id="A9"> University of Washington School of Medicine, Department of Pathology, Seattle, WA 98195 USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Washington (État)</region>
</placeName>
<wicri:cityArea> University of Washington School of Medicine, Department of Pathology, Seattle</wicri:cityArea>
</affiliation>
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<author><name sortKey="Dawson, Ted M" sort="Dawson, Ted M" uniqKey="Dawson T" first="Ted M." last="Dawson">Ted M. Dawson</name>
<affiliation wicri:level="2"><nlm:aff id="A10"> Johns Hopkins University School of Medicine, Institute for Cell Engineering, Departments of Neurology and the Solomon H. Snyder Department of Neuroscience, Baltimore, MD 21205 USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
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<author><name sortKey="Martin, Eden R" sort="Martin, Eden R" uniqKey="Martin E" first="Eden R." last="Martin">Eden R. Martin</name>
<affiliation wicri:level="1"><nlm:aff id="A1"> University of Miami, Miller School of Medicine, John P. Hussman Institute for Human Genomics, Biomedical Research building, 1501 NW 10<sup>th</sup>
Ave, Miami FL 33136, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea> Ave, Miami FL 33136</wicri:regionArea>
<wicri:noRegion>Miami FL 33136</wicri:noRegion>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A2"> University of Miami, Miller School of Medicine, Dr. John T. Macdonald Foundation Department of Human Genetics, Miami, FL 33136, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea> University of Miami, Miller School of Medicine, Dr. John T. Macdonald Foundation Department of Human Genetics, Miami, FL 33136</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Scott, William K" sort="Scott, William K" uniqKey="Scott W" first="William K." last="Scott">William K. Scott</name>
<affiliation wicri:level="1"><nlm:aff id="A1"> University of Miami, Miller School of Medicine, John P. Hussman Institute for Human Genomics, Biomedical Research building, 1501 NW 10<sup>th</sup>
Ave, Miami FL 33136, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea> Ave, Miami FL 33136</wicri:regionArea>
<wicri:noRegion>Miami FL 33136</wicri:noRegion>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A2"> University of Miami, Miller School of Medicine, Dr. John T. Macdonald Foundation Department of Human Genetics, Miami, FL 33136, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea> University of Miami, Miller School of Medicine, Dr. John T. Macdonald Foundation Department of Human Genetics, Miami, FL 33136</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Vance, Jeffery M" sort="Vance, Jeffery M" uniqKey="Vance J" first="Jeffery M." last="Vance">Jeffery M. Vance</name>
<affiliation wicri:level="1"><nlm:aff id="A1"> University of Miami, Miller School of Medicine, John P. Hussman Institute for Human Genomics, Biomedical Research building, 1501 NW 10<sup>th</sup>
Ave, Miami FL 33136, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea> Ave, Miami FL 33136</wicri:regionArea>
<wicri:noRegion>Miami FL 33136</wicri:noRegion>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A2"> University of Miami, Miller School of Medicine, Dr. John T. Macdonald Foundation Department of Human Genetics, Miami, FL 33136, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea> University of Miami, Miller School of Medicine, Dr. John T. Macdonald Foundation Department of Human Genetics, Miami, FL 33136</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="ISSN">0885-3185</idno>
<idno type="eISSN">1531-8257</idno>
<imprint><date when="2014">2014</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Autopsy (methods)</term>
<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>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><sec id="S1"><title>Background</title>
<p id="P1">We have reported that intermediate repeat lengths of the <italic>C9ORF72</italic>
repeat are a risk factor for Parkinson Disease (PD) in a clinically- diagnosed dataset. As 10-25% of clinically diagnosed PD have different diagnoses upon autopsy, we hypothesized this may reflect phenotypic heterogeneity or concomitant pathology of other neurodegenerative disorders.</p>
</sec>
<sec id="S2"><title>Methods</title>
<p id="P2">We screened 488 autopsy-confirmed PD cases for the expansion haplotype tag, rs3849942T. In 196 identified haplotype carriers, the <italic>C9ORF72</italic>
repeat was genotyped using the repeat-primed PCR assay.</p>
</sec>
<sec id="S3"><title>Results</title>
<p id="P3">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).</p>
</sec>
<sec id="S4"><title>Conclusions</title>
<p id="P4">Our results suggest that expanded or intermediate <italic>C9ORF72</italic>
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 <italic>C9ORF72</italic>
repeat to autopsy-confirmed PD.</p>
</sec>
</div>
</front>
</TEI>
</record>
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