La maladie de Parkinson au Canada (serveur d'exploration)

Attention, ce site est en cours de développement !
Attention, site généré par des moyens informatiques à partir de corpus bruts.
Les informations ne sont donc pas validées.

Ataxin-2 repeat-length variation and neurodegeneration

Identifieur interne : 001962 ( Main/Exploration ); précédent : 001961; suivant : 001963

Ataxin-2 repeat-length variation and neurodegeneration

Auteurs : Owen A. Ross [États-Unis] ; Nicola J. Rutherford [États-Unis] ; Matt Baker [États-Unis] ; Alexandra I. Soto-Ortolaza [États-Unis] ; Minerva M. Carrasquillo [États-Unis] ; Mariely Dejesus-Hernandez [États-Unis] ; Jennifer Adamson [États-Unis] ; MA LI [États-Unis] ; Kathryn Volkening [États-Unis, Canada] ; Elizabeth Finger [Canada] ; William W. Seeley [États-Unis] ; Kimmo J. Hatanpaa [États-Unis] ; Catherine Lomen-Hoerth [États-Unis] ; Andrew Kertesz [Canada] ; Eileen H. Bigio [États-Unis] ; Carol Lippa [États-Unis] ; Bryan K. Woodruff [États-Unis] ; David S. Knopman [États-Unis] ; Charles L. Iii White [États-Unis] ; Jay A. Van Gerpen [États-Unis] ; James F. Meschia [États-Unis] ; Ian R. Mackenzie [Canada] ; Kevin Boylan [États-Unis] ; Bradley F. Boeve [États-Unis] ; Bruce L. Miller [États-Unis] ; Michael J. Strong [Canada] ; Ryan J. Uitti [États-Unis] ; Steven G. Younkin [États-Unis] ; Neill R. Graff-Radford [États-Unis] ; Ronald C. Petersen [États-Unis] ; Zbigniew K. Wszolek [États-Unis] ; Dennis W. Dickson [États-Unis] ; Rosa Rademakers [États-Unis]

Source :

RBID : Pascal:11-0356381

Descripteurs français

English descriptors

Abstract

Expanded glutamine repeats of the ataxin-2 (ATXN2) protein cause spinocerebellar ataxia type 2 (SCA2), a rare neurodegenerative disorder. More recent studies have suggested that expanded ATXN2 repeats are a genetic risk factor for amyotrophic lateral sclerosis (ALS) via an RNA-dependent interaction with TDP-43. Given the phenotypic diversity observed in SCA2 patients, we set out to determine the polymorphic nature of the ATXN2 repeat length across a spectrum of neurodegenerative disorders. In this study, we genotyped the ATXN2 repeat in 3919 neurodegenerative disease patients and 4877 healthy controls and performed logistic regression analysis to determine the association of repeat length with the risk of disease. We confirmed the presence of a significantly higher number of expanded ATXN2 repeat carriers in ALS patients compared with healthy controls (OR = 5.57; P = 0.001; repeat length >30 units). Furthermore, we observed significant association of expanded ATXN2 repeats with the development of progressive supranuclear palsy (OR = 5.83; P = 0.004; repeat length >30 units). Although expanded repeat carriers were also identified in frontotemporal lobar degeneration, Alzheimer's and Parkinson's disease patients, these were not significantly more frequent than in controls. Of note, our study identified a number of healthy control individuals who harbor expanded repeat alleles (31-33 units), which suggests caution should be taken when attributing specific disease phenotypes to these repeat lengths. In conclusion, our findings confirm the role of ATXN2 as an important risk factor for ALS and support the hypothesis that expanded ATXN2 repeats may predispose to other neurodegenerative diseases, including progressive supranuclear palsy.

Url:


Affiliations:


Links toward previous steps (curation, corpus...)


Le document en format XML

<record>
<TEI>
<teiHeader>
<fileDesc>
<titleStmt>
<title xml:lang="en" level="a">Ataxin-2 repeat-length variation and neurodegeneration</title>
<author>
<name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name>
<affiliation wicri:level="1">
<inist:fA14 i1="01">
<s1>Department of Neuroscience, Mayo Clinic</s1>
<s2>Jacksonville, FL</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>32 aut.</sZ>
<sZ>33 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Jacksonville, FL</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Rutherford, Nicola J" sort="Rutherford, Nicola J" uniqKey="Rutherford N" first="Nicola J." last="Rutherford">Nicola J. Rutherford</name>
<affiliation wicri:level="1">
<inist:fA14 i1="01">
<s1>Department of Neuroscience, Mayo Clinic</s1>
<s2>Jacksonville, FL</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>32 aut.</sZ>
<sZ>33 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Jacksonville, FL</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Baker, Matt" sort="Baker, Matt" uniqKey="Baker M" first="Matt" last="Baker">Matt Baker</name>
<affiliation wicri:level="1">
<inist:fA14 i1="01">
<s1>Department of Neuroscience, Mayo Clinic</s1>
<s2>Jacksonville, FL</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>32 aut.</sZ>
<sZ>33 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Jacksonville, FL</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Soto Ortolaza, Alexandra I" sort="Soto Ortolaza, Alexandra I" uniqKey="Soto Ortolaza A" first="Alexandra I." last="Soto-Ortolaza">Alexandra I. Soto-Ortolaza</name>
<affiliation wicri:level="1">
<inist:fA14 i1="01">
<s1>Department of Neuroscience, Mayo Clinic</s1>
<s2>Jacksonville, FL</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>32 aut.</sZ>
<sZ>33 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Jacksonville, FL</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Carrasquillo, Minerva M" sort="Carrasquillo, Minerva M" uniqKey="Carrasquillo M" first="Minerva M." last="Carrasquillo">Minerva M. Carrasquillo</name>
<affiliation wicri:level="1">
<inist:fA14 i1="01">
<s1>Department of Neuroscience, Mayo Clinic</s1>
<s2>Jacksonville, FL</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>32 aut.</sZ>
<sZ>33 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Jacksonville, FL</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Dejesus Hernandez, Mariely" sort="Dejesus Hernandez, Mariely" uniqKey="Dejesus Hernandez M" first="Mariely" last="Dejesus-Hernandez">Mariely Dejesus-Hernandez</name>
<affiliation wicri:level="1">
<inist:fA14 i1="01">
<s1>Department of Neuroscience, Mayo Clinic</s1>
<s2>Jacksonville, FL</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>32 aut.</sZ>
<sZ>33 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Jacksonville, FL</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Adamson, Jennifer" sort="Adamson, Jennifer" uniqKey="Adamson J" first="Jennifer" last="Adamson">Jennifer Adamson</name>
<affiliation wicri:level="1">
<inist:fA14 i1="01">
<s1>Department of Neuroscience, Mayo Clinic</s1>
<s2>Jacksonville, FL</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>32 aut.</sZ>
<sZ>33 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Jacksonville, FL</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Ma Li" sort="Ma Li" uniqKey="Ma Li" last="Ma Li">MA LI</name>
<affiliation wicri:level="1">
<inist:fA14 i1="01">
<s1>Department of Neuroscience, Mayo Clinic</s1>
<s2>Jacksonville, FL</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>32 aut.</sZ>
<sZ>33 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Jacksonville, FL</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Volkening, Kathryn" sort="Volkening, Kathryn" uniqKey="Volkening K" first="Kathryn" last="Volkening">Kathryn Volkening</name>
<affiliation wicri:level="1">
<inist:fA14 i1="02">
<s1>Department of Neurology, Mayo Clinic</s1>
<s2>Jacksonville, FL</s2>
<s3>USA</s3>
<sZ>9 aut.</sZ>
<sZ>20 aut.</sZ>
<sZ>21 aut.</sZ>
<sZ>23 aut.</sZ>
<sZ>27 aut.</sZ>
<sZ>29 aut.</sZ>
<sZ>31 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Jacksonville, FL</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1">
<inist:fA14 i1="03">
<s1>Molecular Brain Research Group, Robarts Research Institute</s1>
<s2>London, Ontario</s2>
<s3>CAN</s3>
<sZ>9 aut.</sZ>
<sZ>26 aut.</sZ>
</inist:fA14>
<country>Canada</country>
<wicri:noRegion>London, Ontario</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1">
<inist:fA14 i1="04">
<s1>Department of Clinical Neurological Sciences, Schulich School of Medicine and Dentistry, The University of Western Ontario</s1>
<s2>London, Ontario</s2>
<s3>CAN</s3>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>26 aut.</sZ>
</inist:fA14>
<country>Canada</country>
<wicri:noRegion>London, Ontario</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Finger, Elizabeth" sort="Finger, Elizabeth" uniqKey="Finger E" first="Elizabeth" last="Finger">Elizabeth Finger</name>
<affiliation wicri:level="1">
<inist:fA14 i1="04">
<s1>Department of Clinical Neurological Sciences, Schulich School of Medicine and Dentistry, The University of Western Ontario</s1>
<s2>London, Ontario</s2>
<s3>CAN</s3>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>26 aut.</sZ>
</inist:fA14>
<country>Canada</country>
<wicri:noRegion>London, Ontario</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Seeley, William W" sort="Seeley, William W" uniqKey="Seeley W" first="William W." last="Seeley">William W. Seeley</name>
<affiliation wicri:level="1">
<inist:fA14 i1="05">
<s1>Department of Neurology, University of California</s1>
<s2>San Francisco, CA</s2>
<s3>USA</s3>
<sZ>11 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>25 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>San Francisco, CA</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Hatanpaa, Kimmo J" sort="Hatanpaa, Kimmo J" uniqKey="Hatanpaa K" first="Kimmo J." last="Hatanpaa">Kimmo J. Hatanpaa</name>
<affiliation wicri:level="1">
<inist:fA14 i1="06">
<s1>Department of Pathology and Alzheimer's Disease Center, University of Texas Southwestern Medical Center</s1>
<s2>Dallas, TX</s2>
<s3>USA</s3>
<sZ>12 aut.</sZ>
<sZ>19 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Dallas, TX</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Lomen Hoerth, Catherine" sort="Lomen Hoerth, Catherine" uniqKey="Lomen Hoerth C" first="Catherine" last="Lomen-Hoerth">Catherine Lomen-Hoerth</name>
<affiliation wicri:level="1">
<inist:fA14 i1="05">
<s1>Department of Neurology, University of California</s1>
<s2>San Francisco, CA</s2>
<s3>USA</s3>
<sZ>11 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>25 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>San Francisco, CA</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Kertesz, Andrew" sort="Kertesz, Andrew" uniqKey="Kertesz A" first="Andrew" last="Kertesz">Andrew Kertesz</name>
<affiliation wicri:level="1">
<inist:fA14 i1="04">
<s1>Department of Clinical Neurological Sciences, Schulich School of Medicine and Dentistry, The University of Western Ontario</s1>
<s2>London, Ontario</s2>
<s3>CAN</s3>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>26 aut.</sZ>
</inist:fA14>
<country>Canada</country>
<wicri:noRegion>London, Ontario</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Bigio, Eileen H" sort="Bigio, Eileen H" uniqKey="Bigio E" first="Eileen H." last="Bigio">Eileen H. Bigio</name>
<affiliation wicri:level="1">
<inist:fA14 i1="07">
<s1>Cognitive Neurology & Alzheimer Disease Center, Northwestern University Feinberg School of Medicine</s1>
<s2>Chicago, IL</s2>
<s3>USA</s3>
<sZ>15 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Chicago, IL</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Lippa, Carol" sort="Lippa, Carol" uniqKey="Lippa C" first="Carol" last="Lippa">Carol Lippa</name>
<affiliation wicri:level="1">
<inist:fA14 i1="08">
<s1>Department of Neurology, Drexel University College of Medicine</s1>
<s2>Philadelphia, PA</s2>
<s3>USA</s3>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Philadelphia, PA</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Woodruff, Bryan K" sort="Woodruff, Bryan K" uniqKey="Woodruff B" first="Bryan K." last="Woodruff">Bryan K. Woodruff</name>
<affiliation wicri:level="1">
<inist:fA14 i1="09">
<s1>Department of Neurology, Mayo Clinic</s1>
<s2>Scottsdale, AZ</s2>
<s3>USA</s3>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Scottsdale, AZ</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Knopman, David S" sort="Knopman, David S" uniqKey="Knopman D" first="David S." last="Knopman">David S. Knopman</name>
<affiliation wicri:level="1">
<inist:fA14 i1="10">
<s1>Department of Neurology, Mayo Clinic</s1>
<s2>Rochester, MN</s2>
<s3>USA</s3>
<sZ>18 aut.</sZ>
<sZ>24 aut.</sZ>
<sZ>30 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Rochester, MN</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="White, Charles L Iii" sort="White, Charles L Iii" uniqKey="White C" first="Charles L. Iii" last="White">Charles L. Iii White</name>
<affiliation wicri:level="1">
<inist:fA14 i1="06">
<s1>Department of Pathology and Alzheimer's Disease Center, University of Texas Southwestern Medical Center</s1>
<s2>Dallas, TX</s2>
<s3>USA</s3>
<sZ>12 aut.</sZ>
<sZ>19 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Dallas, TX</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Van Gerpen, Jay A" sort="Van Gerpen, Jay A" uniqKey="Van Gerpen J" first="Jay A." last="Van Gerpen">Jay A. Van Gerpen</name>
<affiliation wicri:level="1">
<inist:fA14 i1="02">
<s1>Department of Neurology, Mayo Clinic</s1>
<s2>Jacksonville, FL</s2>
<s3>USA</s3>
<sZ>9 aut.</sZ>
<sZ>20 aut.</sZ>
<sZ>21 aut.</sZ>
<sZ>23 aut.</sZ>
<sZ>27 aut.</sZ>
<sZ>29 aut.</sZ>
<sZ>31 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Jacksonville, FL</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Meschia, James F" sort="Meschia, James F" uniqKey="Meschia J" first="James F." last="Meschia">James F. Meschia</name>
<affiliation wicri:level="1">
<inist:fA14 i1="02">
<s1>Department of Neurology, Mayo Clinic</s1>
<s2>Jacksonville, FL</s2>
<s3>USA</s3>
<sZ>9 aut.</sZ>
<sZ>20 aut.</sZ>
<sZ>21 aut.</sZ>
<sZ>23 aut.</sZ>
<sZ>27 aut.</sZ>
<sZ>29 aut.</sZ>
<sZ>31 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Jacksonville, FL</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Mackenzie, Ian R" sort="Mackenzie, Ian R" uniqKey="Mackenzie I" first="Ian R." last="Mackenzie">Ian R. Mackenzie</name>
<affiliation wicri:level="1">
<inist:fA14 i1="11">
<s1>Department of Pathology and Laboratory Medicine, University of British Columbia</s1>
<s2>Vancouver</s2>
<s3>CAN</s3>
<sZ>22 aut.</sZ>
</inist:fA14>
<country>Canada</country>
<wicri:noRegion>Vancouver</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Boylan, Kevin" sort="Boylan, Kevin" uniqKey="Boylan K" first="Kevin" last="Boylan">Kevin Boylan</name>
<affiliation wicri:level="1">
<inist:fA14 i1="02">
<s1>Department of Neurology, Mayo Clinic</s1>
<s2>Jacksonville, FL</s2>
<s3>USA</s3>
<sZ>9 aut.</sZ>
<sZ>20 aut.</sZ>
<sZ>21 aut.</sZ>
<sZ>23 aut.</sZ>
<sZ>27 aut.</sZ>
<sZ>29 aut.</sZ>
<sZ>31 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Jacksonville, FL</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Boeve, Bradley F" sort="Boeve, Bradley F" uniqKey="Boeve B" first="Bradley F." last="Boeve">Bradley F. Boeve</name>
<affiliation wicri:level="1">
<inist:fA14 i1="10">
<s1>Department of Neurology, Mayo Clinic</s1>
<s2>Rochester, MN</s2>
<s3>USA</s3>
<sZ>18 aut.</sZ>
<sZ>24 aut.</sZ>
<sZ>30 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Rochester, MN</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Miller, Bruce L" sort="Miller, Bruce L" uniqKey="Miller B" first="Bruce L." last="Miller">Bruce L. Miller</name>
<affiliation wicri:level="1">
<inist:fA14 i1="05">
<s1>Department of Neurology, University of California</s1>
<s2>San Francisco, CA</s2>
<s3>USA</s3>
<sZ>11 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>25 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>San Francisco, CA</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Strong, Michael J" sort="Strong, Michael J" uniqKey="Strong M" first="Michael J." last="Strong">Michael J. Strong</name>
<affiliation wicri:level="1">
<inist:fA14 i1="03">
<s1>Molecular Brain Research Group, Robarts Research Institute</s1>
<s2>London, Ontario</s2>
<s3>CAN</s3>
<sZ>9 aut.</sZ>
<sZ>26 aut.</sZ>
</inist:fA14>
<country>Canada</country>
<wicri:noRegion>London, Ontario</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1">
<inist:fA14 i1="04">
<s1>Department of Clinical Neurological Sciences, Schulich School of Medicine and Dentistry, The University of Western Ontario</s1>
<s2>London, Ontario</s2>
<s3>CAN</s3>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>26 aut.</sZ>
</inist:fA14>
<country>Canada</country>
<wicri:noRegion>London, Ontario</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Uitti, Ryan J" sort="Uitti, Ryan J" uniqKey="Uitti R" first="Ryan J." last="Uitti">Ryan J. Uitti</name>
<affiliation wicri:level="1">
<inist:fA14 i1="02">
<s1>Department of Neurology, Mayo Clinic</s1>
<s2>Jacksonville, FL</s2>
<s3>USA</s3>
<sZ>9 aut.</sZ>
<sZ>20 aut.</sZ>
<sZ>21 aut.</sZ>
<sZ>23 aut.</sZ>
<sZ>27 aut.</sZ>
<sZ>29 aut.</sZ>
<sZ>31 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Jacksonville, FL</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Younkin, Steven G" sort="Younkin, Steven G" uniqKey="Younkin S" first="Steven G." last="Younkin">Steven G. Younkin</name>
<affiliation wicri:level="1">
<inist:fA14 i1="01">
<s1>Department of Neuroscience, Mayo Clinic</s1>
<s2>Jacksonville, FL</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>32 aut.</sZ>
<sZ>33 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Jacksonville, FL</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Graff Radford, Neill R" sort="Graff Radford, Neill R" uniqKey="Graff Radford N" first="Neill R." last="Graff-Radford">Neill R. Graff-Radford</name>
<affiliation wicri:level="1">
<inist:fA14 i1="02">
<s1>Department of Neurology, Mayo Clinic</s1>
<s2>Jacksonville, FL</s2>
<s3>USA</s3>
<sZ>9 aut.</sZ>
<sZ>20 aut.</sZ>
<sZ>21 aut.</sZ>
<sZ>23 aut.</sZ>
<sZ>27 aut.</sZ>
<sZ>29 aut.</sZ>
<sZ>31 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Jacksonville, FL</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Petersen, Ronald C" sort="Petersen, Ronald C" uniqKey="Petersen R" first="Ronald C." last="Petersen">Ronald C. Petersen</name>
<affiliation wicri:level="1">
<inist:fA14 i1="10">
<s1>Department of Neurology, Mayo Clinic</s1>
<s2>Rochester, MN</s2>
<s3>USA</s3>
<sZ>18 aut.</sZ>
<sZ>24 aut.</sZ>
<sZ>30 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Rochester, MN</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name>
<affiliation wicri:level="1">
<inist:fA14 i1="02">
<s1>Department of Neurology, Mayo Clinic</s1>
<s2>Jacksonville, FL</s2>
<s3>USA</s3>
<sZ>9 aut.</sZ>
<sZ>20 aut.</sZ>
<sZ>21 aut.</sZ>
<sZ>23 aut.</sZ>
<sZ>27 aut.</sZ>
<sZ>29 aut.</sZ>
<sZ>31 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Jacksonville, FL</wicri:noRegion>
</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="1">
<inist:fA14 i1="01">
<s1>Department of Neuroscience, Mayo Clinic</s1>
<s2>Jacksonville, FL</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>32 aut.</sZ>
<sZ>33 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Jacksonville, FL</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Rademakers, Rosa" sort="Rademakers, Rosa" uniqKey="Rademakers R" first="Rosa" last="Rademakers">Rosa Rademakers</name>
<affiliation wicri:level="1">
<inist:fA14 i1="01">
<s1>Department of Neuroscience, Mayo Clinic</s1>
<s2>Jacksonville, FL</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>32 aut.</sZ>
<sZ>33 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Jacksonville, FL</wicri:noRegion>
</affiliation>
</author>
</titleStmt>
<publicationStmt>
<idno type="wicri:source">INIST</idno>
<idno type="inist">11-0356381</idno>
<date when="2011">2011</date>
<idno type="stanalyst">PASCAL 11-0356381 INIST</idno>
<idno type="RBID">Pascal:11-0356381</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">000290</idno>
<idno type="wicri:Area/PascalFrancis/Curation">000973</idno>
<idno type="wicri:Area/PascalFrancis/Checkpoint">000288</idno>
<idno type="wicri:explorRef" wicri:stream="PascalFrancis" wicri:step="Checkpoint">000288</idno>
<idno type="wicri:doubleKey">0964-6906:2011:Ross O:ataxin:repeat:length</idno>
<idno type="wicri:Area/Main/Merge">001A63</idno>
<idno type="wicri:source">PMC</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3140823</idno>
<idno type="RBID">PMC:3140823</idno>
<idno type="wicri:Area/Pmc/Corpus">000541</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000541</idno>
<idno type="wicri:Area/Pmc/Curation">000541</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">000541</idno>
<idno type="wicri:Area/Pmc/Checkpoint">000984</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">000984</idno>
<idno type="wicri:Area/Ncbi/Merge">000E87</idno>
<idno type="wicri:Area/Ncbi/Curation">000E87</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">000E87</idno>
<idno type="wicri:doubleKey">0964-6906:2011:Ross O:ataxin:repeat:length</idno>
<idno type="wicri:Area/Main/Merge">001791</idno>
<idno type="wicri:Area/Main/Curation">001962</idno>
<idno type="wicri:Area/Main/Exploration">001962</idno>
</publicationStmt>
<sourceDesc>
<biblStruct>
<analytic>
<title xml:lang="en" level="a">Ataxin-2 repeat-length variation and neurodegeneration</title>
<author>
<name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name>
<affiliation wicri:level="1">
<inist:fA14 i1="01">
<s1>Department of Neuroscience, Mayo Clinic</s1>
<s2>Jacksonville, FL</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>32 aut.</sZ>
<sZ>33 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Jacksonville, FL</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Rutherford, Nicola J" sort="Rutherford, Nicola J" uniqKey="Rutherford N" first="Nicola J." last="Rutherford">Nicola J. Rutherford</name>
<affiliation wicri:level="1">
<inist:fA14 i1="01">
<s1>Department of Neuroscience, Mayo Clinic</s1>
<s2>Jacksonville, FL</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>32 aut.</sZ>
<sZ>33 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Jacksonville, FL</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Baker, Matt" sort="Baker, Matt" uniqKey="Baker M" first="Matt" last="Baker">Matt Baker</name>
<affiliation wicri:level="1">
<inist:fA14 i1="01">
<s1>Department of Neuroscience, Mayo Clinic</s1>
<s2>Jacksonville, FL</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>32 aut.</sZ>
<sZ>33 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Jacksonville, FL</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Soto Ortolaza, Alexandra I" sort="Soto Ortolaza, Alexandra I" uniqKey="Soto Ortolaza A" first="Alexandra I." last="Soto-Ortolaza">Alexandra I. Soto-Ortolaza</name>
<affiliation wicri:level="1">
<inist:fA14 i1="01">
<s1>Department of Neuroscience, Mayo Clinic</s1>
<s2>Jacksonville, FL</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>32 aut.</sZ>
<sZ>33 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Jacksonville, FL</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Carrasquillo, Minerva M" sort="Carrasquillo, Minerva M" uniqKey="Carrasquillo M" first="Minerva M." last="Carrasquillo">Minerva M. Carrasquillo</name>
<affiliation wicri:level="1">
<inist:fA14 i1="01">
<s1>Department of Neuroscience, Mayo Clinic</s1>
<s2>Jacksonville, FL</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>32 aut.</sZ>
<sZ>33 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Jacksonville, FL</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Dejesus Hernandez, Mariely" sort="Dejesus Hernandez, Mariely" uniqKey="Dejesus Hernandez M" first="Mariely" last="Dejesus-Hernandez">Mariely Dejesus-Hernandez</name>
<affiliation wicri:level="1">
<inist:fA14 i1="01">
<s1>Department of Neuroscience, Mayo Clinic</s1>
<s2>Jacksonville, FL</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>32 aut.</sZ>
<sZ>33 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Jacksonville, FL</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Adamson, Jennifer" sort="Adamson, Jennifer" uniqKey="Adamson J" first="Jennifer" last="Adamson">Jennifer Adamson</name>
<affiliation wicri:level="1">
<inist:fA14 i1="01">
<s1>Department of Neuroscience, Mayo Clinic</s1>
<s2>Jacksonville, FL</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>32 aut.</sZ>
<sZ>33 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Jacksonville, FL</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Ma Li" sort="Ma Li" uniqKey="Ma Li" last="Ma Li">MA LI</name>
<affiliation wicri:level="1">
<inist:fA14 i1="01">
<s1>Department of Neuroscience, Mayo Clinic</s1>
<s2>Jacksonville, FL</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>32 aut.</sZ>
<sZ>33 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Jacksonville, FL</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Volkening, Kathryn" sort="Volkening, Kathryn" uniqKey="Volkening K" first="Kathryn" last="Volkening">Kathryn Volkening</name>
<affiliation wicri:level="1">
<inist:fA14 i1="02">
<s1>Department of Neurology, Mayo Clinic</s1>
<s2>Jacksonville, FL</s2>
<s3>USA</s3>
<sZ>9 aut.</sZ>
<sZ>20 aut.</sZ>
<sZ>21 aut.</sZ>
<sZ>23 aut.</sZ>
<sZ>27 aut.</sZ>
<sZ>29 aut.</sZ>
<sZ>31 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Jacksonville, FL</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1">
<inist:fA14 i1="03">
<s1>Molecular Brain Research Group, Robarts Research Institute</s1>
<s2>London, Ontario</s2>
<s3>CAN</s3>
<sZ>9 aut.</sZ>
<sZ>26 aut.</sZ>
</inist:fA14>
<country>Canada</country>
<wicri:noRegion>London, Ontario</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1">
<inist:fA14 i1="04">
<s1>Department of Clinical Neurological Sciences, Schulich School of Medicine and Dentistry, The University of Western Ontario</s1>
<s2>London, Ontario</s2>
<s3>CAN</s3>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>26 aut.</sZ>
</inist:fA14>
<country>Canada</country>
<wicri:noRegion>London, Ontario</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Finger, Elizabeth" sort="Finger, Elizabeth" uniqKey="Finger E" first="Elizabeth" last="Finger">Elizabeth Finger</name>
<affiliation wicri:level="1">
<inist:fA14 i1="04">
<s1>Department of Clinical Neurological Sciences, Schulich School of Medicine and Dentistry, The University of Western Ontario</s1>
<s2>London, Ontario</s2>
<s3>CAN</s3>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>26 aut.</sZ>
</inist:fA14>
<country>Canada</country>
<wicri:noRegion>London, Ontario</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Seeley, William W" sort="Seeley, William W" uniqKey="Seeley W" first="William W." last="Seeley">William W. Seeley</name>
<affiliation wicri:level="1">
<inist:fA14 i1="05">
<s1>Department of Neurology, University of California</s1>
<s2>San Francisco, CA</s2>
<s3>USA</s3>
<sZ>11 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>25 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>San Francisco, CA</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Hatanpaa, Kimmo J" sort="Hatanpaa, Kimmo J" uniqKey="Hatanpaa K" first="Kimmo J." last="Hatanpaa">Kimmo J. Hatanpaa</name>
<affiliation wicri:level="1">
<inist:fA14 i1="06">
<s1>Department of Pathology and Alzheimer's Disease Center, University of Texas Southwestern Medical Center</s1>
<s2>Dallas, TX</s2>
<s3>USA</s3>
<sZ>12 aut.</sZ>
<sZ>19 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Dallas, TX</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Lomen Hoerth, Catherine" sort="Lomen Hoerth, Catherine" uniqKey="Lomen Hoerth C" first="Catherine" last="Lomen-Hoerth">Catherine Lomen-Hoerth</name>
<affiliation wicri:level="1">
<inist:fA14 i1="05">
<s1>Department of Neurology, University of California</s1>
<s2>San Francisco, CA</s2>
<s3>USA</s3>
<sZ>11 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>25 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>San Francisco, CA</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Kertesz, Andrew" sort="Kertesz, Andrew" uniqKey="Kertesz A" first="Andrew" last="Kertesz">Andrew Kertesz</name>
<affiliation wicri:level="1">
<inist:fA14 i1="04">
<s1>Department of Clinical Neurological Sciences, Schulich School of Medicine and Dentistry, The University of Western Ontario</s1>
<s2>London, Ontario</s2>
<s3>CAN</s3>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>26 aut.</sZ>
</inist:fA14>
<country>Canada</country>
<wicri:noRegion>London, Ontario</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Bigio, Eileen H" sort="Bigio, Eileen H" uniqKey="Bigio E" first="Eileen H." last="Bigio">Eileen H. Bigio</name>
<affiliation wicri:level="1">
<inist:fA14 i1="07">
<s1>Cognitive Neurology & Alzheimer Disease Center, Northwestern University Feinberg School of Medicine</s1>
<s2>Chicago, IL</s2>
<s3>USA</s3>
<sZ>15 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Chicago, IL</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Lippa, Carol" sort="Lippa, Carol" uniqKey="Lippa C" first="Carol" last="Lippa">Carol Lippa</name>
<affiliation wicri:level="1">
<inist:fA14 i1="08">
<s1>Department of Neurology, Drexel University College of Medicine</s1>
<s2>Philadelphia, PA</s2>
<s3>USA</s3>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Philadelphia, PA</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Woodruff, Bryan K" sort="Woodruff, Bryan K" uniqKey="Woodruff B" first="Bryan K." last="Woodruff">Bryan K. Woodruff</name>
<affiliation wicri:level="1">
<inist:fA14 i1="09">
<s1>Department of Neurology, Mayo Clinic</s1>
<s2>Scottsdale, AZ</s2>
<s3>USA</s3>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Scottsdale, AZ</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Knopman, David S" sort="Knopman, David S" uniqKey="Knopman D" first="David S." last="Knopman">David S. Knopman</name>
<affiliation wicri:level="1">
<inist:fA14 i1="10">
<s1>Department of Neurology, Mayo Clinic</s1>
<s2>Rochester, MN</s2>
<s3>USA</s3>
<sZ>18 aut.</sZ>
<sZ>24 aut.</sZ>
<sZ>30 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Rochester, MN</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="White, Charles L Iii" sort="White, Charles L Iii" uniqKey="White C" first="Charles L. Iii" last="White">Charles L. Iii White</name>
<affiliation wicri:level="1">
<inist:fA14 i1="06">
<s1>Department of Pathology and Alzheimer's Disease Center, University of Texas Southwestern Medical Center</s1>
<s2>Dallas, TX</s2>
<s3>USA</s3>
<sZ>12 aut.</sZ>
<sZ>19 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Dallas, TX</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Van Gerpen, Jay A" sort="Van Gerpen, Jay A" uniqKey="Van Gerpen J" first="Jay A." last="Van Gerpen">Jay A. Van Gerpen</name>
<affiliation wicri:level="1">
<inist:fA14 i1="02">
<s1>Department of Neurology, Mayo Clinic</s1>
<s2>Jacksonville, FL</s2>
<s3>USA</s3>
<sZ>9 aut.</sZ>
<sZ>20 aut.</sZ>
<sZ>21 aut.</sZ>
<sZ>23 aut.</sZ>
<sZ>27 aut.</sZ>
<sZ>29 aut.</sZ>
<sZ>31 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Jacksonville, FL</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Meschia, James F" sort="Meschia, James F" uniqKey="Meschia J" first="James F." last="Meschia">James F. Meschia</name>
<affiliation wicri:level="1">
<inist:fA14 i1="02">
<s1>Department of Neurology, Mayo Clinic</s1>
<s2>Jacksonville, FL</s2>
<s3>USA</s3>
<sZ>9 aut.</sZ>
<sZ>20 aut.</sZ>
<sZ>21 aut.</sZ>
<sZ>23 aut.</sZ>
<sZ>27 aut.</sZ>
<sZ>29 aut.</sZ>
<sZ>31 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Jacksonville, FL</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Mackenzie, Ian R" sort="Mackenzie, Ian R" uniqKey="Mackenzie I" first="Ian R." last="Mackenzie">Ian R. Mackenzie</name>
<affiliation wicri:level="1">
<inist:fA14 i1="11">
<s1>Department of Pathology and Laboratory Medicine, University of British Columbia</s1>
<s2>Vancouver</s2>
<s3>CAN</s3>
<sZ>22 aut.</sZ>
</inist:fA14>
<country>Canada</country>
<wicri:noRegion>Vancouver</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Boylan, Kevin" sort="Boylan, Kevin" uniqKey="Boylan K" first="Kevin" last="Boylan">Kevin Boylan</name>
<affiliation wicri:level="1">
<inist:fA14 i1="02">
<s1>Department of Neurology, Mayo Clinic</s1>
<s2>Jacksonville, FL</s2>
<s3>USA</s3>
<sZ>9 aut.</sZ>
<sZ>20 aut.</sZ>
<sZ>21 aut.</sZ>
<sZ>23 aut.</sZ>
<sZ>27 aut.</sZ>
<sZ>29 aut.</sZ>
<sZ>31 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Jacksonville, FL</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Boeve, Bradley F" sort="Boeve, Bradley F" uniqKey="Boeve B" first="Bradley F." last="Boeve">Bradley F. Boeve</name>
<affiliation wicri:level="1">
<inist:fA14 i1="10">
<s1>Department of Neurology, Mayo Clinic</s1>
<s2>Rochester, MN</s2>
<s3>USA</s3>
<sZ>18 aut.</sZ>
<sZ>24 aut.</sZ>
<sZ>30 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Rochester, MN</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Miller, Bruce L" sort="Miller, Bruce L" uniqKey="Miller B" first="Bruce L." last="Miller">Bruce L. Miller</name>
<affiliation wicri:level="1">
<inist:fA14 i1="05">
<s1>Department of Neurology, University of California</s1>
<s2>San Francisco, CA</s2>
<s3>USA</s3>
<sZ>11 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>25 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>San Francisco, CA</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Strong, Michael J" sort="Strong, Michael J" uniqKey="Strong M" first="Michael J." last="Strong">Michael J. Strong</name>
<affiliation wicri:level="1">
<inist:fA14 i1="03">
<s1>Molecular Brain Research Group, Robarts Research Institute</s1>
<s2>London, Ontario</s2>
<s3>CAN</s3>
<sZ>9 aut.</sZ>
<sZ>26 aut.</sZ>
</inist:fA14>
<country>Canada</country>
<wicri:noRegion>London, Ontario</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1">
<inist:fA14 i1="04">
<s1>Department of Clinical Neurological Sciences, Schulich School of Medicine and Dentistry, The University of Western Ontario</s1>
<s2>London, Ontario</s2>
<s3>CAN</s3>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>26 aut.</sZ>
</inist:fA14>
<country>Canada</country>
<wicri:noRegion>London, Ontario</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Uitti, Ryan J" sort="Uitti, Ryan J" uniqKey="Uitti R" first="Ryan J." last="Uitti">Ryan J. Uitti</name>
<affiliation wicri:level="1">
<inist:fA14 i1="02">
<s1>Department of Neurology, Mayo Clinic</s1>
<s2>Jacksonville, FL</s2>
<s3>USA</s3>
<sZ>9 aut.</sZ>
<sZ>20 aut.</sZ>
<sZ>21 aut.</sZ>
<sZ>23 aut.</sZ>
<sZ>27 aut.</sZ>
<sZ>29 aut.</sZ>
<sZ>31 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Jacksonville, FL</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Younkin, Steven G" sort="Younkin, Steven G" uniqKey="Younkin S" first="Steven G." last="Younkin">Steven G. Younkin</name>
<affiliation wicri:level="1">
<inist:fA14 i1="01">
<s1>Department of Neuroscience, Mayo Clinic</s1>
<s2>Jacksonville, FL</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>32 aut.</sZ>
<sZ>33 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Jacksonville, FL</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Graff Radford, Neill R" sort="Graff Radford, Neill R" uniqKey="Graff Radford N" first="Neill R." last="Graff-Radford">Neill R. Graff-Radford</name>
<affiliation wicri:level="1">
<inist:fA14 i1="02">
<s1>Department of Neurology, Mayo Clinic</s1>
<s2>Jacksonville, FL</s2>
<s3>USA</s3>
<sZ>9 aut.</sZ>
<sZ>20 aut.</sZ>
<sZ>21 aut.</sZ>
<sZ>23 aut.</sZ>
<sZ>27 aut.</sZ>
<sZ>29 aut.</sZ>
<sZ>31 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Jacksonville, FL</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Petersen, Ronald C" sort="Petersen, Ronald C" uniqKey="Petersen R" first="Ronald C." last="Petersen">Ronald C. Petersen</name>
<affiliation wicri:level="1">
<inist:fA14 i1="10">
<s1>Department of Neurology, Mayo Clinic</s1>
<s2>Rochester, MN</s2>
<s3>USA</s3>
<sZ>18 aut.</sZ>
<sZ>24 aut.</sZ>
<sZ>30 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Rochester, MN</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name>
<affiliation wicri:level="1">
<inist:fA14 i1="02">
<s1>Department of Neurology, Mayo Clinic</s1>
<s2>Jacksonville, FL</s2>
<s3>USA</s3>
<sZ>9 aut.</sZ>
<sZ>20 aut.</sZ>
<sZ>21 aut.</sZ>
<sZ>23 aut.</sZ>
<sZ>27 aut.</sZ>
<sZ>29 aut.</sZ>
<sZ>31 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Jacksonville, FL</wicri:noRegion>
</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="1">
<inist:fA14 i1="01">
<s1>Department of Neuroscience, Mayo Clinic</s1>
<s2>Jacksonville, FL</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>32 aut.</sZ>
<sZ>33 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Jacksonville, FL</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Rademakers, Rosa" sort="Rademakers, Rosa" uniqKey="Rademakers R" first="Rosa" last="Rademakers">Rosa Rademakers</name>
<affiliation wicri:level="1">
<inist:fA14 i1="01">
<s1>Department of Neuroscience, Mayo Clinic</s1>
<s2>Jacksonville, FL</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>28 aut.</sZ>
<sZ>32 aut.</sZ>
<sZ>33 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Jacksonville, FL</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series>
<title level="j" type="main">Human molecular genetics : (Print)</title>
<title level="j" type="abbreviated">Hum. mol. genet. : (Print)</title>
<idno type="ISSN">0964-6906</idno>
<imprint>
<date when="2011">2011</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt>
<title level="j" type="main">Human molecular genetics : (Print)</title>
<title level="j" type="abbreviated">Hum. mol. genet. : (Print)</title>
<idno type="ISSN">0964-6906</idno>
</seriesStmt>
</fileDesc>
<profileDesc>
<textClass>
<keywords scheme="KwdEn" xml:lang="en">
<term>Degenerative disease</term>
<term>Genetics</term>
<term>Length</term>
<term>Spinocerebellar heredodegeneration</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr">
<term>Hérédodégénérescence spinocérébelleuse</term>
<term>Longueur</term>
<term>Maladie dégénérative</term>
<term>Génétique</term>
<term>Ataxine</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr">
<term>Génétique</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front>
<div type="abstract" xml:lang="en">Expanded glutamine repeats of the ataxin-2 (ATXN2) protein cause spinocerebellar ataxia type 2 (SCA2), a rare neurodegenerative disorder. More recent studies have suggested that expanded ATXN2 repeats are a genetic risk factor for amyotrophic lateral sclerosis (ALS) via an RNA-dependent interaction with TDP-43. Given the phenotypic diversity observed in SCA2 patients, we set out to determine the polymorphic nature of the ATXN2 repeat length across a spectrum of neurodegenerative disorders. In this study, we genotyped the ATXN2 repeat in 3919 neurodegenerative disease patients and 4877 healthy controls and performed logistic regression analysis to determine the association of repeat length with the risk of disease. We confirmed the presence of a significantly higher number of expanded ATXN2 repeat carriers in ALS patients compared with healthy controls (OR = 5.57; P = 0.001; repeat length >30 units). Furthermore, we observed significant association of expanded ATXN2 repeats with the development of progressive supranuclear palsy (OR = 5.83; P = 0.004; repeat length >30 units). Although expanded repeat carriers were also identified in frontotemporal lobar degeneration, Alzheimer's and Parkinson's disease patients, these were not significantly more frequent than in controls. Of note, our study identified a number of healthy control individuals who harbor expanded repeat alleles (31-33 units), which suggests caution should be taken when attributing specific disease phenotypes to these repeat lengths. In conclusion, our findings confirm the role of ATXN2 as an important risk factor for ALS and support the hypothesis that expanded ATXN2 repeats may predispose to other neurodegenerative diseases, including progressive supranuclear palsy.</div>
</front>
</TEI>
<affiliations>
<list>
<country>
<li>Canada</li>
<li>États-Unis</li>
</country>
</list>
<tree>
<country name="États-Unis">
<noRegion>
<name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name>
</noRegion>
<name sortKey="Adamson, Jennifer" sort="Adamson, Jennifer" uniqKey="Adamson J" first="Jennifer" last="Adamson">Jennifer Adamson</name>
<name sortKey="Baker, Matt" sort="Baker, Matt" uniqKey="Baker M" first="Matt" last="Baker">Matt Baker</name>
<name sortKey="Bigio, Eileen H" sort="Bigio, Eileen H" uniqKey="Bigio E" first="Eileen H." last="Bigio">Eileen H. Bigio</name>
<name sortKey="Boeve, Bradley F" sort="Boeve, Bradley F" uniqKey="Boeve B" first="Bradley F." last="Boeve">Bradley F. Boeve</name>
<name sortKey="Boylan, Kevin" sort="Boylan, Kevin" uniqKey="Boylan K" first="Kevin" last="Boylan">Kevin Boylan</name>
<name sortKey="Carrasquillo, Minerva M" sort="Carrasquillo, Minerva M" uniqKey="Carrasquillo M" first="Minerva M." last="Carrasquillo">Minerva M. Carrasquillo</name>
<name sortKey="Dejesus Hernandez, Mariely" sort="Dejesus Hernandez, Mariely" uniqKey="Dejesus Hernandez M" first="Mariely" last="Dejesus-Hernandez">Mariely Dejesus-Hernandez</name>
<name sortKey="Dickson, Dennis W" sort="Dickson, Dennis W" uniqKey="Dickson D" first="Dennis W." last="Dickson">Dennis W. Dickson</name>
<name sortKey="Graff Radford, Neill R" sort="Graff Radford, Neill R" uniqKey="Graff Radford N" first="Neill R." last="Graff-Radford">Neill R. Graff-Radford</name>
<name sortKey="Hatanpaa, Kimmo J" sort="Hatanpaa, Kimmo J" uniqKey="Hatanpaa K" first="Kimmo J." last="Hatanpaa">Kimmo J. Hatanpaa</name>
<name sortKey="Knopman, David S" sort="Knopman, David S" uniqKey="Knopman D" first="David S." last="Knopman">David S. Knopman</name>
<name sortKey="Lippa, Carol" sort="Lippa, Carol" uniqKey="Lippa C" first="Carol" last="Lippa">Carol Lippa</name>
<name sortKey="Lomen Hoerth, Catherine" sort="Lomen Hoerth, Catherine" uniqKey="Lomen Hoerth C" first="Catherine" last="Lomen-Hoerth">Catherine Lomen-Hoerth</name>
<name sortKey="Ma Li" sort="Ma Li" uniqKey="Ma Li" last="Ma Li">MA LI</name>
<name sortKey="Meschia, James F" sort="Meschia, James F" uniqKey="Meschia J" first="James F." last="Meschia">James F. Meschia</name>
<name sortKey="Miller, Bruce L" sort="Miller, Bruce L" uniqKey="Miller B" first="Bruce L." last="Miller">Bruce L. Miller</name>
<name sortKey="Petersen, Ronald C" sort="Petersen, Ronald C" uniqKey="Petersen R" first="Ronald C." last="Petersen">Ronald C. Petersen</name>
<name sortKey="Rademakers, Rosa" sort="Rademakers, Rosa" uniqKey="Rademakers R" first="Rosa" last="Rademakers">Rosa Rademakers</name>
<name sortKey="Rutherford, Nicola J" sort="Rutherford, Nicola J" uniqKey="Rutherford N" first="Nicola J." last="Rutherford">Nicola J. Rutherford</name>
<name sortKey="Seeley, William W" sort="Seeley, William W" uniqKey="Seeley W" first="William W." last="Seeley">William W. Seeley</name>
<name sortKey="Soto Ortolaza, Alexandra I" sort="Soto Ortolaza, Alexandra I" uniqKey="Soto Ortolaza A" first="Alexandra I." last="Soto-Ortolaza">Alexandra I. Soto-Ortolaza</name>
<name sortKey="Uitti, Ryan J" sort="Uitti, Ryan J" uniqKey="Uitti R" first="Ryan J." last="Uitti">Ryan J. Uitti</name>
<name sortKey="Van Gerpen, Jay A" sort="Van Gerpen, Jay A" uniqKey="Van Gerpen J" first="Jay A." last="Van Gerpen">Jay A. Van Gerpen</name>
<name sortKey="Volkening, Kathryn" sort="Volkening, Kathryn" uniqKey="Volkening K" first="Kathryn" last="Volkening">Kathryn Volkening</name>
<name sortKey="White, Charles L Iii" sort="White, Charles L Iii" uniqKey="White C" first="Charles L. Iii" last="White">Charles L. Iii White</name>
<name sortKey="Woodruff, Bryan K" sort="Woodruff, Bryan K" uniqKey="Woodruff B" first="Bryan K." last="Woodruff">Bryan K. Woodruff</name>
<name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name>
<name sortKey="Younkin, Steven G" sort="Younkin, Steven G" uniqKey="Younkin S" first="Steven G." last="Younkin">Steven G. Younkin</name>
</country>
<country name="Canada">
<noRegion>
<name sortKey="Volkening, Kathryn" sort="Volkening, Kathryn" uniqKey="Volkening K" first="Kathryn" last="Volkening">Kathryn Volkening</name>
</noRegion>
<name sortKey="Finger, Elizabeth" sort="Finger, Elizabeth" uniqKey="Finger E" first="Elizabeth" last="Finger">Elizabeth Finger</name>
<name sortKey="Kertesz, Andrew" sort="Kertesz, Andrew" uniqKey="Kertesz A" first="Andrew" last="Kertesz">Andrew Kertesz</name>
<name sortKey="Mackenzie, Ian R" sort="Mackenzie, Ian R" uniqKey="Mackenzie I" first="Ian R." last="Mackenzie">Ian R. Mackenzie</name>
<name sortKey="Strong, Michael J" sort="Strong, Michael J" uniqKey="Strong M" first="Michael J." last="Strong">Michael J. Strong</name>
<name sortKey="Strong, Michael J" sort="Strong, Michael J" uniqKey="Strong M" first="Michael J." last="Strong">Michael J. Strong</name>
<name sortKey="Volkening, Kathryn" sort="Volkening, Kathryn" uniqKey="Volkening K" first="Kathryn" last="Volkening">Kathryn Volkening</name>
</country>
</tree>
</affiliations>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Canada/explor/ParkinsonCanadaV1/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001962 | SxmlIndent | more

Ou

HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 001962 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Canada
   |area=    ParkinsonCanadaV1
   |flux=    Main
   |étape=   Exploration
   |type=    RBID
   |clé=     Pascal:11-0356381
   |texte=   Ataxin-2 repeat-length variation and neurodegeneration
}}

Wicri

This area was generated with Dilib version V0.6.29.
Data generation: Thu May 4 22:20:19 2017. Site generation: Fri Dec 23 23:17:26 2022