ParkinsonCanadaV1, Main, Exploration, bibRecord, 002097

Heterozygous carriers of a Parkin or PINK1 mutation share a common functional endophenotype

Identifieur interne : 002097 ( Main/Exploration ); précédent : 002096; suivant : 002098

Heterozygous carriers of a Parkin or PINK1 mutation share a common functional endophenotype

Auteurs : B. F. L. Van Nuenen [Allemagne, Pays-Bas] ; M. M. Weiss [Allemagne] ; B. R. Bloem [Pays-Bas] ; K. Reetz [Allemagne] ; T. Van Eimeren [Allemagne, Canada] ; K. Lohmann [Allemagne] ; J. Hagenah [Allemagne] ; P. P. Pramstaller [Italie] ; F. Binkofski [Allemagne] ; C. Klein [Allemagne] ; H. R. Siebner [Allemagne, Danemark]

Source :

Neurology [ 0028-3878 ] ; 2009.

RBID : Pascal:09-0177735

Descripteurs français

Pascal (Inist)
- Pathologie du système nerveux, Porteur, Parkine, Mutation.

English descriptors

KwdEn :
- Carrier, Mutation, Nervous system diseases, Parkin.

Abstract

Objective: To use a combined neurogenetic-neuroimaging approach to examine the functional consequences of preclinical dopaminergic nigrostriatal dysfunction in the human motor system. Specifically, we examined how a single heterozygous mutation in different genes associated with recessively inherited Parkinson disease alters the cortical control of sequential finger movements. Methods: Nonmanifesting individuals carrying a single heterozygous Parkin (n = 13) or PINK1 (n = 9) mutation and 23 healthy controls without these mutations were studied with functional MRI (fMRI). During fMRI, participants performed simple sequences of three thumb-to-finger opposition movements with their right dominant hand. Since heterozygous Parkin and PINK1 mutations cause a latent dopaminergic nigrostriatal dysfunction, we predicted a compensatory recruitment of those rostral premotor areas that are normally implicated in the control of complex motor sequences. We expected this overactivity to be independent of the underlying genotype. Results: Task performance was comparable for all groups. The performance of a simple motor sequence task consistently activated the rostral supplementary motor area and right rostral dorsal premotor cortex in mutation carriers but not in controls. Task-related activation of these premotor areas was similar in carriers of a Parkin or PINK1 mutation. Conclusion: Mutations in different genes linked to recessively inherited Parkinson disease are associated with an additional recruitment of rostral supplementary motor area and rostral dorsal premotor cortex during a simple motor sequence task. These premotor areas were recruited independently of the underlying genotype. The observed activation most likely reflects a "generic" compensatory mechanism to maintain motor function in the context of a mild dopaminergic deficit.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2821837

Affiliations:

Allemagne, Canada, Danemark, Italie, Pays-Bas
Gueldre, Hovedstaden, Ontario, Schleswig-Holstein
Copenhague, Kiel, Nimègue, Toronto
Université de Toronto

Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Heterozygous carriers of a Parkin or PINK1 mutation share a common functional endophenotype</title>
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<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<wicri:noRegion>Hamburg-Kiel-Lübeck</wicri:noRegion>
<wicri:noRegion>Neurolmage-Nord</wicri:noRegion>
<wicri:noRegion>Neurolmage-Nord</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Klein, C" sort="Klein, C" uniqKey="Klein C" first="C." last="Klein">C. Klein</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Neurology University of Lübeck</s1>
<s3>DEU</s3>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<wicri:noRegion>Department of Neurology University of Lübeck</wicri:noRegion>
<wicri:noRegion>Department of Neurology University of Lübeck</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Siebner, H R" sort="Siebner, H R" uniqKey="Siebner H" first="H. R." last="Siebner">H. R. Siebner</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology Christian-Albrechts University</s1>
<s2>Kiel</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="2">Schleswig-Holstein</region>
<settlement type="city">Kiel</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Neurolmage-Nord</s1>
<s2>Hamburg-Kiel-Lübeck</s2>
<s3>DEU</s3>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<wicri:noRegion>Hamburg-Kiel-Lübeck</wicri:noRegion>
<wicri:noRegion>Neurolmage-Nord</wicri:noRegion>
<wicri:noRegion>Neurolmage-Nord</wicri:noRegion>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="07"><s1>Danish Research Centre for Magnetic Resonance Hvidovre University Hospital</s1>
<s2>Copenhagen</s2>
<s3>DNK</s3>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>Danemark</country>
<placeName><settlement type="city">Copenhague</settlement>
<region type="région" nuts="2">Hovedstaden</region>
</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Neurology</title>
<title level="j" type="abbreviated">Neurology</title>
<idno type="ISSN">0028-3878</idno>
<imprint><date when="2009">2009</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Neurology</title>
<title level="j" type="abbreviated">Neurology</title>
<idno type="ISSN">0028-3878</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Carrier</term>
<term>Mutation</term>
<term>Nervous system diseases</term>
<term>Parkin</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Pathologie du   système nerveux</term>
<term>Porteur</term>
<term>Parkine</term>
<term>Mutation</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Objective: To use a combined neurogenetic-neuroimaging approach to examine the functional consequences of preclinical dopaminergic nigrostriatal dysfunction in the human motor system. Specifically, we examined how a single heterozygous mutation in different genes associated with recessively inherited Parkinson disease alters the cortical control of sequential finger movements. Methods: Nonmanifesting individuals carrying a single heterozygous Parkin (n = 13) or PINK1 (n = 9) mutation and 23 healthy controls without these mutations were studied with functional MRI (fMRI). During fMRI, participants performed simple sequences of three thumb-to-finger opposition movements with their right dominant hand. Since heterozygous Parkin and PINK1 mutations cause a latent dopaminergic nigrostriatal dysfunction, we predicted a compensatory recruitment of those rostral premotor areas that are normally implicated in the control of complex motor sequences. We expected this overactivity to be independent of the underlying genotype. Results: Task performance was comparable for all groups. The performance of a simple motor sequence task consistently activated the rostral supplementary motor area and right rostral dorsal premotor cortex in mutation carriers but not in controls. Task-related activation of these premotor areas was similar in carriers of a Parkin or PINK1 mutation. Conclusion: Mutations in different genes linked to recessively inherited Parkinson disease are associated with an additional recruitment of rostral supplementary motor area and rostral dorsal premotor cortex during a simple motor sequence task. These premotor areas were recruited independently of the underlying genotype. The observed activation most likely reflects a "generic" compensatory mechanism to maintain motor function in the context of a mild dopaminergic deficit.</div>
</front>
</TEI>
<affiliations><list><country><li>Allemagne</li>
<li>Canada</li>
<li>Danemark</li>
<li>Italie</li>
<li>Pays-Bas</li>
</country>
<region><li>Gueldre</li>
<li>Hovedstaden</li>
<li>Ontario</li>
<li>Schleswig-Holstein</li>
</region>
<settlement><li>Copenhague</li>
<li>Kiel</li>
<li>Nimègue</li>
<li>Toronto</li>
</settlement>
<orgName><li>Université de Toronto</li>
</orgName>
</list>
<tree><country name="Allemagne"><region name="Schleswig-Holstein"><name sortKey="Van Nuenen, B F L" sort="Van Nuenen, B F L" uniqKey="Van Nuenen B" first="B. F. L." last="Van Nuenen">B. F. L. Van Nuenen</name>
</region>
<name sortKey="Binkofski, F" sort="Binkofski, F" uniqKey="Binkofski F" first="F." last="Binkofski">F. Binkofski</name>
<name sortKey="Binkofski, F" sort="Binkofski, F" uniqKey="Binkofski F" first="F." last="Binkofski">F. Binkofski</name>
<name sortKey="Hagenah, J" sort="Hagenah, J" uniqKey="Hagenah J" first="J." last="Hagenah">J. Hagenah</name>
<name sortKey="Klein, C" sort="Klein, C" uniqKey="Klein C" first="C." last="Klein">C. Klein</name>
<name sortKey="Lohmann, K" sort="Lohmann, K" uniqKey="Lohmann K" first="K." last="Lohmann">K. Lohmann</name>
<name sortKey="Reetz, K" sort="Reetz, K" uniqKey="Reetz K" first="K." last="Reetz">K. Reetz</name>
<name sortKey="Reetz, K" sort="Reetz, K" uniqKey="Reetz K" first="K." last="Reetz">K. Reetz</name>
<name sortKey="Siebner, H R" sort="Siebner, H R" uniqKey="Siebner H" first="H. R." last="Siebner">H. R. Siebner</name>
<name sortKey="Siebner, H R" sort="Siebner, H R" uniqKey="Siebner H" first="H. R." last="Siebner">H. R. Siebner</name>
<name sortKey="Van Eimeren, T" sort="Van Eimeren, T" uniqKey="Van Eimeren T" first="T." last="Van Eimeren">T. Van Eimeren</name>
<name sortKey="Weiss, M M" sort="Weiss, M M" uniqKey="Weiss M" first="M. M." last="Weiss">M. M. Weiss</name>
</country>
<country name="Pays-Bas"><region name="Gueldre"><name sortKey="Van Nuenen, B F L" sort="Van Nuenen, B F L" uniqKey="Van Nuenen B" first="B. F. L." last="Van Nuenen">B. F. L. Van Nuenen</name>
</region>
<name sortKey="Bloem, B R" sort="Bloem, B R" uniqKey="Bloem B" first="B. R." last="Bloem">B. R. Bloem</name>
</country>
<country name="Canada"><region name="Ontario"><name sortKey="Van Eimeren, T" sort="Van Eimeren, T" uniqKey="Van Eimeren T" first="T." last="Van Eimeren">T. Van Eimeren</name>
</region>
</country>
<country name="Italie"><noRegion><name sortKey="Pramstaller, P P" sort="Pramstaller, P P" uniqKey="Pramstaller P" first="P. P." last="Pramstaller">P. P. Pramstaller</name>
</noRegion>
</country>
<country name="Danemark"><region name="Hovedstaden"><name sortKey="Siebner, H R" sort="Siebner, H R" uniqKey="Siebner H" first="H. R." last="Siebner">H. R. Siebner</name>
</region>
</country>
</tree>
</affiliations>
</record>

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

Heterozygous carriers of a Parkin or PINK1 mutation share a common functional endophenotype

Heterozygous carriers of a Parkin or PINK1 mutation share a common functional endophenotype

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