MovDisordV3, Pmc, Checkpoint, bibRecord, 000050

Absence of C9ORF72 expanded or intermediate repeats in autopsy confirmed Parkinson Disease

Identifieur interne : 000050 ( Pmc/Checkpoint ); précédent : 000049; suivant : 000051

Absence 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.

RBID : PMC:4022044

Abstract

Background

We have reported that intermediate repeat lengths of the C9ORF72 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.

Methods

We screened 488 autopsy-confirmed PD cases for the expansion haplotype tag, rs3849942T. In 196 identified haplotype carriers, the C9ORF72 repeat was genotyped using the repeat-primed PCR assay.

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).

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.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4022044

DOI: 10.1002/mds.25838
PubMed: 24573903
PubMed Central: 4022044

Affiliations:

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 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>
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<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>
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 Ave, Miami FL 33136, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea> Ave, Miami FL 33136</wicri:regionArea>
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<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>
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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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 Ave, Miami FL 33136, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
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<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>
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<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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</placeName>
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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>
<affiliation wicri:level="2"><nlm:aff id="A3"> Mayo Clinic Florida, Department of Neuroscience, Jacksonville, FL 32224 USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Floride</region>
</placeName>
<wicri:cityArea> Mayo Clinic Florida, Department of Neuroscience, Jacksonville</wicri:cityArea>
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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>
</placeName>
<wicri:cityArea> University of Pennsylvania, Department of Pathology & Laboratory Medicine, Perelman School of Medicine, Center for Neurodegenerative Disease Research, Philadelphia</wicri:cityArea>
</affiliation>
</author>
<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>
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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>
<affiliation wicri:level="2"><nlm:aff id="A6"> Massachusetts General Hospital and Harvard Medical School, Kubik Laboratory for Neuropathology, Charlestown, MA 02114 USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Massachusetts</region>
</placeName>
<wicri:cityArea> Massachusetts General Hospital and Harvard Medical School, Kubik Laboratory for Neuropathology, Charlestown</wicri:cityArea>
</affiliation>
</author>
<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>
</author>
<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>
</placeName>
<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>
</author>
<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>
<wicri:cityArea> Johns Hopkins University School of Medicine, Institute for Cell Engineering, Departments of Neurology and the Solomon H. Snyder Department of Neuroscience, Baltimore</wicri:cityArea>
</affiliation>
</author>
<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>
</titleStmt>
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<idno type="pmid">24573903</idno>
<idno type="pmc">4022044</idno>
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<idno type="doi">10.1002/mds.25838</idno>
<date when="2014">2014</date>
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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>
<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="Dickson, Dennis W" sort="Dickson, Dennis W" uniqKey="Dickson D" first="Dennis W." last="Dickson">Dennis W. Dickson</name>
<affiliation wicri:level="2"><nlm:aff id="A3"> Mayo Clinic Florida, Department of Neuroscience, Jacksonville, FL 32224 USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Floride</region>
</placeName>
<wicri:cityArea> Mayo Clinic Florida, Department of Neuroscience, Jacksonville</wicri:cityArea>
</affiliation>
</author>
<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>
</placeName>
<wicri:cityArea> University of Pennsylvania, Department of Pathology & Laboratory Medicine, Perelman School of Medicine, Center for Neurodegenerative Disease Research, Philadelphia</wicri:cityArea>
</affiliation>
</author>
<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>
</placeName>
<wicri:cityArea> University of Pennsylvania, Department of Pathology & Laboratory Medicine, Perelman School of Medicine, Center for Neurodegenerative Disease Research, Philadelphia</wicri:cityArea>
</affiliation>
</author>
<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>
<wicri:regionArea> University of Miami, Miller School of Medicine, Brain Endowment Bank, Miami, FL 33136</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Frosch, Matthew P" sort="Frosch, Matthew P" uniqKey="Frosch M" first="Matthew P." last="Frosch">Matthew P. Frosch</name>
<affiliation wicri:level="2"><nlm:aff id="A6"> Massachusetts General Hospital and Harvard Medical School, Kubik Laboratory for Neuropathology, Charlestown, MA 02114 USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Massachusetts</region>
</placeName>
<wicri:cityArea> Massachusetts General Hospital and Harvard Medical School, Kubik Laboratory for Neuropathology, Charlestown</wicri:cityArea>
</affiliation>
</author>
<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>
</author>
<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>
</placeName>
<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>
</author>
<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>
<wicri:cityArea> Johns Hopkins University School of Medicine, Institute for Cell Engineering, Departments of Neurology and the Solomon H. Snyder Department of Neuroscience, Baltimore</wicri:cityArea>
</affiliation>
</author>
<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></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>
<pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
  <pmc-dir>properties manuscript</pmc-dir>
  <front><journal-meta><journal-id journal-id-type="nlm-journal-id">8610688</journal-id>
<journal-id journal-id-type="pubmed-jr-id">5937</journal-id>
<journal-id journal-id-type="nlm-ta">Mov Disord</journal-id>
<journal-id journal-id-type="iso-abbrev">Mov. Disord.</journal-id>
<journal-title-group><journal-title>Movement disorders : official journal of the Movement Disorder Society</journal-title>
</journal-title-group>
<issn pub-type="ppub">0885-3185</issn>
<issn pub-type="epub">1531-8257</issn>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">24573903</article-id>
<article-id pub-id-type="pmc">4022044</article-id>
<article-id pub-id-type="doi">10.1002/mds.25838</article-id>
<article-id pub-id-type="manuscript">NIHMS563097</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Article</subject>
</subj-group>
</article-categories>
<title-group><article-title>Absence of <italic>C9ORF72</italic>
 expanded or intermediate repeats in autopsy confirmed Parkinson Disease</article-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>NUYTEMANS</surname>
<given-names>KAREN</given-names>
</name>
<xref ref-type="aff" rid="A1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>INCHAUSTI</surname>
<given-names>VANESSA</given-names>
</name>
<xref ref-type="aff" rid="A1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>BEECHAM</surname>
<given-names>GARY W.</given-names>
</name>
<xref ref-type="aff" rid="A1">1</xref>
<xref ref-type="aff" rid="A2">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>WANG</surname>
<given-names>LIYONG</given-names>
</name>
<xref ref-type="aff" rid="A1">1</xref>
<xref ref-type="aff" rid="A2">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>DICKSON</surname>
<given-names>DENNIS W.</given-names>
</name>
<xref ref-type="aff" rid="A3">3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>TROJANOWSKI</surname>
<given-names>JOHN Q.</given-names>
</name>
<xref ref-type="aff" rid="A4">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>LEE</surname>
<given-names>VIRGINIA M.-Y.</given-names>
</name>
<xref ref-type="aff" rid="A4">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>MASH</surname>
<given-names>DEBORAH C.</given-names>
</name>
<xref ref-type="aff" rid="A5">5</xref>
</contrib>
<contrib contrib-type="author"><name><surname>FROSCH</surname>
<given-names>MATTHEW P.</given-names>
</name>
<xref ref-type="aff" rid="A6">6</xref>
</contrib>
<contrib contrib-type="author"><name><surname>FOROUD</surname>
<given-names>TATIANA M.</given-names>
</name>
<xref ref-type="aff" rid="A7">7</xref>
</contrib>
<contrib contrib-type="author"><name><surname>HONIG</surname>
<given-names>LAWRENCE S.</given-names>
</name>
<xref ref-type="aff" rid="A8">8</xref>
</contrib>
<contrib contrib-type="author"><name><surname>MONTINE</surname>
<given-names>THOMAS J.</given-names>
</name>
<xref ref-type="aff" rid="A9">9</xref>
</contrib>
<contrib contrib-type="author"><name><surname>DAWSON</surname>
<given-names>TED M.</given-names>
</name>
<xref ref-type="aff" rid="A10">10</xref>
</contrib>
<contrib contrib-type="author"><name><surname>MARTIN</surname>
<given-names>EDEN R.</given-names>
</name>
<xref ref-type="aff" rid="A1">1</xref>
<xref ref-type="aff" rid="A2">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>SCOTT</surname>
<given-names>WILLIAM K.</given-names>
</name>
<xref ref-type="aff" rid="A1">1</xref>
<xref ref-type="aff" rid="A2">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>VANCE</surname>
<given-names>JEFFERY M.</given-names>
</name>
<xref ref-type="aff" rid="A1">1</xref>
<xref ref-type="aff" rid="A2">2</xref>
</contrib>
</contrib-group>
<aff id="A1"><label>1</label>
 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</aff>
<aff id="A2"><label>2</label>
 University of Miami, Miller School of Medicine, Dr. John T. Macdonald Foundation Department of Human Genetics, Miami, FL 33136, USA</aff>
<aff id="A3"><label>3</label>
 Mayo Clinic Florida, Department of Neuroscience, Jacksonville, FL 32224 USA</aff>
<aff id="A4"><label>4</label>
 University of Pennsylvania, Department of Pathology & Laboratory Medicine, Perelman School of Medicine, Center for Neurodegenerative Disease Research, Philadelphia, PA 19104 USA</aff>
<aff id="A5"><label>5</label>
 University of Miami, Miller School of Medicine, Brain Endowment Bank, Miami, FL 33136, USA</aff>
<aff id="A6"><label>6</label>
 Massachusetts General Hospital and Harvard Medical School, Kubik Laboratory for Neuropathology, Charlestown, MA 02114 USA</aff>
<aff id="A7"><label>7</label>
 Indiana University School of Medicine, Department of Medical and Molecular Genetics, Indianapolis, IN 46202 USA</aff>
<aff id="A8"><label>8</label>
 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</aff>
<aff id="A9"><label>9</label>
 University of Washington School of Medicine, Department of Pathology, Seattle, WA 98195 USA</aff>
<aff id="A10"><label>10</label>
 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</aff>
<author-notes><corresp id="CR1">Corresponding Author / Requests for reprints should be send to: Jeffery M. Vance, MD, PhD University of Miami Miller School of Medicine 1501 NW 10<sup>th</sup>
 Ave Biomedical Research Building, Suite 616 Miami, FL 33136 Ph: (305) 243.5464 Fax: (305) 243.2704 <email>jvance@med.miami.edu</email>
</corresp>
</author-notes>
<pub-date pub-type="nihms-submitted"><day>4</day>
<month>4</month>
<year>2014</year>
</pub-date>
<pub-date pub-type="epub"><day>26</day>
<month>2</month>
<year>2014</year>
</pub-date>
<pub-date pub-type="ppub"><month>5</month>
<year>2014</year>
</pub-date>
<pub-date pub-type="pmc-release"><day>01</day>
<month>5</month>
<year>2015</year>
</pub-date>
<volume>29</volume>
<issue>6</issue>
<fpage>827</fpage>
<lpage>830</lpage>
<pmc-comment>elocation-id from pubmed: 10.1002/mds.25838</pmc-comment>
      <abstract><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>
</abstract>
<kwd-group><kwd>autopsy confirmed</kwd>
<kwd>Parkinson Disease</kwd>
<kwd><italic>C9ORF72</italic>
 repeat</kwd>
<kwd>parkinsonism</kwd>
</kwd-group>
</article-meta>
</front>
</pmc>
<affiliations><list><country><li>États-Unis</li>
</country>
<region><li>Floride</li>
<li>Indiana</li>
<li>Maryland</li>
<li>Massachusetts</li>
<li>Pennsylvanie</li>
<li>Washington (État)</li>
<li>État de New York</li>
</region>
</list>
<tree><country name="États-Unis"><noRegion><name sortKey="Nuytemans, Karen" sort="Nuytemans, Karen" uniqKey="Nuytemans K" first="Karen" last="Nuytemans">Karen Nuytemans</name>
</noRegion>
<name sortKey="Beecham, Gary W" sort="Beecham, Gary W" uniqKey="Beecham G" first="Gary W." last="Beecham">Gary W. Beecham</name>
<name sortKey="Beecham, Gary W" sort="Beecham, Gary W" uniqKey="Beecham G" first="Gary W." last="Beecham">Gary W. Beecham</name>
<name sortKey="Dawson, Ted M" sort="Dawson, Ted M" uniqKey="Dawson T" first="Ted M." last="Dawson">Ted M. Dawson</name>
<name sortKey="Dickson, Dennis W" sort="Dickson, Dennis W" uniqKey="Dickson D" first="Dennis W." last="Dickson">Dennis W. Dickson</name>
<name sortKey="Foroud, Tatiana M" sort="Foroud, Tatiana M" uniqKey="Foroud T" first="Tatiana M." last="Foroud">Tatiana M. Foroud</name>
<name sortKey="Frosch, Matthew P" sort="Frosch, Matthew P" uniqKey="Frosch M" first="Matthew P." last="Frosch">Matthew P. Frosch</name>
<name sortKey="Honig, Lawrence S" sort="Honig, Lawrence S" uniqKey="Honig L" first="Lawrence S." last="Honig">Lawrence S. Honig</name>
<name sortKey="Inchausti, Vanessa" sort="Inchausti, Vanessa" uniqKey="Inchausti V" first="Vanessa" last="Inchausti">Vanessa Inchausti</name>
<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>
<name sortKey="Martin, Eden R" sort="Martin, Eden R" uniqKey="Martin E" first="Eden R." last="Martin">Eden R. Martin</name>
<name sortKey="Martin, Eden R" sort="Martin, Eden R" uniqKey="Martin E" first="Eden R." last="Martin">Eden R. Martin</name>
<name sortKey="Mash, Deborah C" sort="Mash, Deborah C" uniqKey="Mash D" first="Deborah C." last="Mash">Deborah C. Mash</name>
<name sortKey="Montine, Thomas J" sort="Montine, Thomas J" uniqKey="Montine T" first="Thomas J." last="Montine">Thomas J. Montine</name>
<name sortKey="Scott, William K" sort="Scott, William K" uniqKey="Scott W" first="William K." last="Scott">William K. Scott</name>
<name sortKey="Scott, William K" sort="Scott, William K" uniqKey="Scott W" first="William K." last="Scott">William K. Scott</name>
<name sortKey="Trojanowski, John Q" sort="Trojanowski, John Q" uniqKey="Trojanowski J" first="John Q." last="Trojanowski">John Q. Trojanowski</name>
<name sortKey="Vance, Jeffery M" sort="Vance, Jeffery M" uniqKey="Vance J" first="Jeffery M." last="Vance">Jeffery M. Vance</name>
<name sortKey="Vance, Jeffery M" sort="Vance, Jeffery M" uniqKey="Vance J" first="Jeffery M." last="Vance">Jeffery M. Vance</name>
<name sortKey="Wang, Liyong" sort="Wang, Liyong" uniqKey="Wang L" first="Liyong" last="Wang">Liyong Wang</name>
<name sortKey="Wang, Liyong" sort="Wang, Liyong" uniqKey="Wang L" first="Liyong" last="Wang">Liyong Wang</name>
</country>
</tree>
</affiliations>
</record>

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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 Disease

Absence of C9ORF72 expanded or intermediate repeats in autopsy confirmed Parkinson Disease

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