Motor Abnormalities in Premanifest Persons with Huntington’s Disease: The PREDICT-HD Study
Identifieur interne : 000065 ( Pmc/Curation ); précédent : 000064; suivant : 000066Motor Abnormalities in Premanifest Persons with Huntington’s Disease: The PREDICT-HD Study
Auteurs : Kevin M. Biglan [États-Unis] ; Christopher A. Ross [États-Unis] ; Douglas R. Langbehn [États-Unis] ; Elizabeth H. Aylward [États-Unis] ; Julie C. Stout [Australie] ; Sarah Queller [États-Unis] ; Noelle E. Carlozzi [États-Unis] ; Kevin Duff [États-Unis] ; Leigh J. Beglinger [États-Unis] ; Jane S. Paulsen [États-Unis]Source :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2009.
Abstract
The PREDICT-HD study seeks to identify clinical and biological markers of Huntington’s disease in premanifest individuals who have undergone predictive genetic testing.
We compared baseline motor data between gene-expansion carriers (cases) and non gene-expansion carriers (controls) using T-tests and Chi-Square. Cases were categorized as near, mid or far from diagnosis using a CAG-based formula. Striatal volumes were calculated using volumetric MRI measurements. Multiple linear regression associated total motor score, motor domains and individual motor items with estimated diagnosis and striatal volumes.
Elevated total motor scores at baseline were associated with higher genetic probability of disease diagnosis in the near future (partial R2 0.14, p<0.0001) and smaller striatal volumes (partial R2 0.15, p<0.0001). Nearly all motor domain scores showed greater abnormality with increasing proximity to diagnosis, although bradykinesia and chorea were most highly associated with diagnostic immediacy. Among individual motor items, worse scores on finger tapping, tandem gait, Luria, saccade initiation, and chorea show unique association with diagnosis probability.
Even in this premanifest population subtle motor abnormalities were associated with a higher probability of disease diagnosis and smaller striatal volumes. Longitudinal assessment will help inform whether motor items will be useful measures in preventive clinical trials.
Url:
DOI: 10.1002/mds.22601
PubMed: 19562761
PubMed Central: 3048804
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<author><name sortKey="Queller, Sarah" sort="Queller, Sarah" uniqKey="Queller S" first="Sarah" last="Queller">Sarah Queller</name>
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<author><name sortKey="Carlozzi, Noelle E" sort="Carlozzi, Noelle E" uniqKey="Carlozzi N" first="Noelle E." last="Carlozzi">Noelle E. Carlozzi</name>
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<author><name sortKey="Paulsen, Jane S" sort="Paulsen, Jane S" uniqKey="Paulsen J" first="Jane S." last="Paulsen">Jane S. Paulsen</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Motor Abnormalities in Premanifest Persons with Huntington’s Disease: The PREDICT-HD Study</title>
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<author><name sortKey="Ross, Christopher A" sort="Ross, Christopher A" uniqKey="Ross C" first="Christopher A." last="Ross">Christopher A. Ross</name>
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<placeName><region type="state">Maryland</region>
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<wicri:cityArea> Johns Hopkins University, Baltimore</wicri:cityArea>
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<author><name sortKey="Langbehn, Douglas R" sort="Langbehn, Douglas R" uniqKey="Langbehn D" first="Douglas R." last="Langbehn">Douglas R. Langbehn</name>
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<author><name sortKey="Aylward, Elizabeth H" sort="Aylward, Elizabeth H" uniqKey="Aylward E" first="Elizabeth H." last="Aylward">Elizabeth H. Aylward</name>
<affiliation wicri:level="2"><nlm:aff id="A4"> University of Washington, Seattle, Washington</nlm:aff>
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<author><name sortKey="Stout, Julie C" sort="Stout, Julie C" uniqKey="Stout J" first="Julie C." last="Stout">Julie C. Stout</name>
<affiliation wicri:level="1"><nlm:aff id="A5"> Monash University, Victoria, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea> Monash University, Victoria</wicri:regionArea>
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<author><name sortKey="Queller, Sarah" sort="Queller, Sarah" uniqKey="Queller S" first="Sarah" last="Queller">Sarah Queller</name>
<affiliation wicri:level="2"><nlm:aff id="A6"> Indiana University, Bloomington, Indiana</nlm:aff>
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<placeName><region type="state">Indiana</region>
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<wicri:cityArea> Indiana University, Bloomington</wicri:cityArea>
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<author><name sortKey="Carlozzi, Noelle E" sort="Carlozzi, Noelle E" uniqKey="Carlozzi N" first="Noelle E." last="Carlozzi">Noelle E. Carlozzi</name>
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<author><name sortKey="Beglinger, Leigh J" sort="Beglinger, Leigh J" uniqKey="Beglinger L" first="Leigh J." last="Beglinger">Leigh J. Beglinger</name>
<affiliation wicri:level="2"><nlm:aff id="A3"> University of Iowa, Iowa City, Iowa</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Iowa</region>
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<wicri:cityArea> University of Iowa, Iowa City</wicri:cityArea>
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<author><name sortKey="Paulsen, Jane S" sort="Paulsen, Jane S" uniqKey="Paulsen J" first="Jane S." last="Paulsen">Jane S. Paulsen</name>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="ISSN">0885-3185</idno>
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<front><div type="abstract" xml:lang="en"><sec id="S1"><title>Background</title>
<p id="P1">The PREDICT-HD study seeks to identify clinical and biological markers of Huntington’s disease in premanifest individuals who have undergone predictive genetic testing.</p>
</sec>
<sec sec-type="methods" id="S2"><title>Methods</title>
<p id="P2">We compared baseline motor data between gene-expansion carriers (cases) and non gene-expansion carriers (controls) using T-tests and Chi-Square. Cases were categorized as near, mid or far from diagnosis using a CAG-based formula. Striatal volumes were calculated using volumetric MRI measurements. Multiple linear regression associated total motor score, motor domains and individual motor items with estimated diagnosis and striatal volumes.</p>
</sec>
<sec id="S3"><title>Results</title>
<p id="P3">Elevated total motor scores at baseline were associated with higher genetic probability of disease diagnosis in the near future (partial R2 0.14, p<0.0001) and smaller striatal volumes (partial R2 0.15, p<0.0001). Nearly all motor domain scores showed greater abnormality with increasing proximity to diagnosis, although bradykinesia and chorea were most highly associated with diagnostic immediacy. Among individual motor items, worse scores on finger tapping, tandem gait, Luria, saccade initiation, and chorea show unique association with diagnosis probability.</p>
</sec>
<sec id="S4"><title>Conclusions</title>
<p id="P4">Even in this premanifest population subtle motor abnormalities were associated with a higher probability of disease diagnosis and smaller striatal volumes. Longitudinal assessment will help inform whether motor items will be useful measures in preventive clinical trials.</p>
</sec>
</div>
</front>
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<pmc article-type="research-article" xml:lang="EN"><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-title>Movement disorders : official journal of the Movement Disorder Society</journal-title>
<issn pub-type="ppub">0885-3185</issn>
<issn pub-type="epub">1531-8257</issn>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">19562761</article-id>
<article-id pub-id-type="pmc">3048804</article-id>
<article-id pub-id-type="doi">10.1002/mds.22601</article-id>
<article-id pub-id-type="manuscript">NIHMS274263</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Article</subject>
</subj-group>
</article-categories>
<title-group><article-title>Motor Abnormalities in Premanifest Persons with Huntington’s Disease: The PREDICT-HD Study</article-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Biglan</surname>
<given-names>Kevin M.</given-names>
</name>
<degrees>MD, MPH</degrees>
<xref rid="A1" ref-type="aff">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Ross</surname>
<given-names>Christopher A.</given-names>
</name>
<degrees>MD, PhD</degrees>
<xref rid="A2" ref-type="aff">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Langbehn</surname>
<given-names>Douglas R.</given-names>
</name>
<degrees>MD, PhD</degrees>
<xref rid="A3" ref-type="aff">3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Aylward</surname>
<given-names>Elizabeth H.</given-names>
</name>
<degrees>PhD</degrees>
<xref rid="A4" ref-type="aff">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Stout</surname>
<given-names>Julie C.</given-names>
</name>
<degrees>PhD</degrees>
<xref rid="A5" ref-type="aff">5</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Queller</surname>
<given-names>Sarah</given-names>
</name>
<degrees>PhD</degrees>
<xref rid="A6" ref-type="aff">6</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Carlozzi</surname>
<given-names>Noelle E.</given-names>
</name>
<degrees>PhD</degrees>
<xref rid="A7" ref-type="aff">7</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Duff</surname>
<given-names>Kevin</given-names>
</name>
<degrees>PhD</degrees>
<xref rid="A3" ref-type="aff">3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Beglinger</surname>
<given-names>Leigh J.</given-names>
</name>
<degrees>PhD</degrees>
<xref rid="A3" ref-type="aff">3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Paulsen</surname>
<given-names>Jane S.</given-names>
</name>
<degrees>PhD</degrees>
<xref rid="A3" ref-type="aff">3</xref>
</contrib>
<contrib contrib-type="author"><collab>the PREDICT-HD Investigators of the Huntington Study Group</collab>
</contrib>
</contrib-group>
<aff id="A1"><label>1</label>
University of Rochester, Rochester, New York</aff>
<aff id="A2"><label>2</label>
Johns Hopkins University, Baltimore, Maryland</aff>
<aff id="A3"><label>3</label>
University of Iowa, Iowa City, Iowa</aff>
<aff id="A4"><label>4</label>
University of Washington, Seattle, Washington</aff>
<aff id="A5"><label>5</label>
Monash University, Victoria, Australia</aff>
<aff id="A6"><label>6</label>
Indiana University, Bloomington, Indiana</aff>
<aff id="A7"><label>7</label>
Kessler Medical Rehabilitation Research & Education Center, West Orange, New Jersey</aff>
<author-notes><corresp id="FN1">Address correspondence to: Jane S. Paulsen, Ph.D., University of Iowa, College of Medicine, 1–305 MEB, Iowa City, IA 52242, Phone: 319-353-4551, Fax: 319-353-4438, <email>jane-paulsen@uiowa.edu</email>
</corresp>
</author-notes>
<pub-date pub-type="nihms-submitted"><day>18</day>
<month>2</month>
<year>2011</year>
</pub-date>
<pub-date pub-type="ppub"><day>15</day>
<month>9</month>
<year>2009</year>
</pub-date>
<pub-date pub-type="pmc-release"><day>4</day>
<month>3</month>
<year>2011</year>
</pub-date>
<volume>24</volume>
<issue>12</issue>
<fpage>1763</fpage>
<lpage>1772</lpage>
<abstract><sec id="S1"><title>Background</title>
<p id="P1">The PREDICT-HD study seeks to identify clinical and biological markers of Huntington’s disease in premanifest individuals who have undergone predictive genetic testing.</p>
</sec>
<sec sec-type="methods" id="S2"><title>Methods</title>
<p id="P2">We compared baseline motor data between gene-expansion carriers (cases) and non gene-expansion carriers (controls) using T-tests and Chi-Square. Cases were categorized as near, mid or far from diagnosis using a CAG-based formula. Striatal volumes were calculated using volumetric MRI measurements. Multiple linear regression associated total motor score, motor domains and individual motor items with estimated diagnosis and striatal volumes.</p>
</sec>
<sec id="S3"><title>Results</title>
<p id="P3">Elevated total motor scores at baseline were associated with higher genetic probability of disease diagnosis in the near future (partial R2 0.14, p<0.0001) and smaller striatal volumes (partial R2 0.15, p<0.0001). Nearly all motor domain scores showed greater abnormality with increasing proximity to diagnosis, although bradykinesia and chorea were most highly associated with diagnostic immediacy. Among individual motor items, worse scores on finger tapping, tandem gait, Luria, saccade initiation, and chorea show unique association with diagnosis probability.</p>
</sec>
<sec id="S4"><title>Conclusions</title>
<p id="P4">Even in this premanifest population subtle motor abnormalities were associated with a higher probability of disease diagnosis and smaller striatal volumes. Longitudinal assessment will help inform whether motor items will be useful measures in preventive clinical trials.</p>
</sec>
</abstract>
<kwd-group><kwd>Huntington’s disease</kwd>
<kwd>at-risk</kwd>
<kwd>UHDRS</kwd>
</kwd-group>
<contract-num rid="NS1">R01 NS040068-09
||NS</contract-num>
<contract-sponsor id="NS1">National Institute of Neurological Disorders and Stroke : NINDS</contract-sponsor>
</article-meta>
</front>
</pmc>
</record>
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