Functional brain imaging in glucocerebrosidase mutation carriers with and without Parkinsonism
Identifieur interne : 000710 ( Main/Exploration ); précédent : 000709; suivant : 000711Functional brain imaging in glucocerebrosidase mutation carriers with and without Parkinsonism
Auteurs : Satoshi Kono [Japon] ; Yasuomi Ouchi [Japon] ; Tatsuhiro Terada [Japon] ; Hiroyuki Ida [Japon] ; Makiko Suzuki [Japon] ; Hiroaki Miyajima [Japon]Source :
- Movement Disorders [ 0885-3185 ] ; 2010-09-15.
English descriptors
- KwdEn :
Abstract
Mutations in the glucocerebrosidase gene (GBA) increase the risk for Parkinson's disease and are also associated with an earlier onset of the disease and an akinetic parkinsonian phenotype. To investigate the underlying pathogenesis of this condition, we assessed cerebral metabolism using positron emission tomography (PET) in GBA mutation carriers with and without parkinsonism. [18F]‐fluorodeoxyglucose (FDG)‐PET using a three‐dimensional stereotactic surface projection analysis was used to measure the cerebral metabolic rates of glucose (CMRGlc) in a patient with parkinsonism and Gaucher disease (GD) and five subjects with a heterozygous GBA mutation, including three patients with parkinsonism and three asymptomatic carriers in comparison to 10 healthy controls in the same age range. Dopaminergic neuronal activity was investigated using [11C] CFT‐ and [11C] raclopride‐PET. All GBA mutation carriers displayed a significant CMRGlc decrease in the supplemental motor area (SMA). The carriers with parkinsonism showed additional hypometabolism in the parietooccipital cortices. The CFT and raclopride PET images in the asymptomatic carriers demonstrated the CFT binding to be within normal values in the putamen and a significant increase was observed in the caudate nucleus while raclopride binding in the striatum was in the normal range. An advanced parkinsonian carrier showed decreased CFT binding and increased raclopride binding in the striatum. The decreased CMRGlc in the SMA was characteristic of the GBA mutation carriers. The hypometabolism in the SMA may, therefore, be involved in the clinical characteristics of parkinsonism associated with GBA mutations when the carriers manifest parkinsonism. © 2010 Movement Disorder Society
Url:
DOI: 10.1002/mds.23213
Affiliations:
Links toward previous steps (curation, corpus...)
Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Functional brain imaging in glucocerebrosidase mutation carriers with and without Parkinsonism</title><author><name sortKey="Kono, Satoshi" sort="Kono, Satoshi" uniqKey="Kono S" first="Satoshi" last="Kono">Satoshi Kono</name></author><author><name sortKey="Ouchi, Yasuomi" sort="Ouchi, Yasuomi" uniqKey="Ouchi Y" first="Yasuomi" last="Ouchi">Yasuomi Ouchi</name></author><author><name sortKey="Terada, Tatsuhiro" sort="Terada, Tatsuhiro" uniqKey="Terada T" first="Tatsuhiro" last="Terada">Tatsuhiro Terada</name></author><author><name sortKey="Ida, Hiroyuki" sort="Ida, Hiroyuki" uniqKey="Ida H" first="Hiroyuki" last="Ida">Hiroyuki Ida</name></author><author><name sortKey="Suzuki, Makiko" sort="Suzuki, Makiko" uniqKey="Suzuki M" first="Makiko" last="Suzuki">Makiko Suzuki</name></author><author><name sortKey="Miyajima, Hiroaki" sort="Miyajima, Hiroaki" uniqKey="Miyajima H" first="Hiroaki" last="Miyajima">Hiroaki Miyajima</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:82A7287278954A788ED5829956D2D31187F8D4CD</idno><date when="2010" year="2010">2010</date><idno type="doi">10.1002/mds.23213</idno><idno type="url">https://api.istex.fr/document/82A7287278954A788ED5829956D2D31187F8D4CD/fulltext/pdf</idno><idno type="wicri:Area/Main/Corpus">000601</idno><idno type="wicri:Area/Main/Curation">000522</idno><idno type="wicri:Area/Main/Exploration">000710</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Functional brain imaging in glucocerebrosidase mutation carriers with and without Parkinsonism</title><author><name sortKey="Kono, Satoshi" sort="Kono, Satoshi" uniqKey="Kono S" first="Satoshi" last="Kono">Satoshi Kono</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>First Department of Medicine, Hamamatsu University School of Medicine, Hamamatsu</wicri:regionArea><wicri:noRegion>Hamamatsu</wicri:noRegion></affiliation></author><author><name sortKey="Ouchi, Yasuomi" sort="Ouchi, Yasuomi" uniqKey="Ouchi Y" first="Yasuomi" last="Ouchi">Yasuomi Ouchi</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Laboratory of Human Brain Imaging Research, Molecular Imaging Frontier Research Center, Hamamatsu University School of Medicine, Hamamatsu</wicri:regionArea><wicri:noRegion>Hamamatsu</wicri:noRegion></affiliation></author><author><name sortKey="Terada, Tatsuhiro" sort="Terada, Tatsuhiro" uniqKey="Terada T" first="Tatsuhiro" last="Terada">Tatsuhiro Terada</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>First Department of Medicine, Hamamatsu University School of Medicine, Hamamatsu</wicri:regionArea><wicri:noRegion>Hamamatsu</wicri:noRegion></affiliation></author><author><name sortKey="Ida, Hiroyuki" sort="Ida, Hiroyuki" uniqKey="Ida H" first="Hiroyuki" last="Ida">Hiroyuki Ida</name><affiliation wicri:level="3"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Pediatrics, Jikei University School of Medicine, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author><author><name sortKey="Suzuki, Makiko" sort="Suzuki, Makiko" uniqKey="Suzuki M" first="Makiko" last="Suzuki">Makiko Suzuki</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>First Department of Medicine, Hamamatsu University School of Medicine, Hamamatsu</wicri:regionArea><wicri:noRegion>Hamamatsu</wicri:noRegion></affiliation></author><author><name sortKey="Miyajima, Hiroaki" sort="Miyajima, Hiroaki" uniqKey="Miyajima H" first="Hiroaki" last="Miyajima">Hiroaki Miyajima</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>First Department of Medicine, Hamamatsu University School of Medicine, Hamamatsu</wicri:regionArea><wicri:noRegion>Hamamatsu</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2010-09-15">2010-09-15</date><biblScope unit="volume">25</biblScope><biblScope unit="issue">12</biblScope><biblScope unit="page" from="1823">1823</biblScope><biblScope unit="page" to="1829">1829</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">82A7287278954A788ED5829956D2D31187F8D4CD</idno><idno type="DOI">10.1002/mds.23213</idno><idno type="ArticleID">MDS23213</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>CFT</term><term>FDG</term><term>PET</term><term>Parkinson's disease</term><term>glucocerebrosidase</term><term>raclopride</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Mutations in the glucocerebrosidase gene (GBA) increase the risk for Parkinson's disease and are also associated with an earlier onset of the disease and an akinetic parkinsonian phenotype. To investigate the underlying pathogenesis of this condition, we assessed cerebral metabolism using positron emission tomography (PET) in GBA mutation carriers with and without parkinsonism. [18F]‐fluorodeoxyglucose (FDG)‐PET using a three‐dimensional stereotactic surface projection analysis was used to measure the cerebral metabolic rates of glucose (CMRGlc) in a patient with parkinsonism and Gaucher disease (GD) and five subjects with a heterozygous GBA mutation, including three patients with parkinsonism and three asymptomatic carriers in comparison to 10 healthy controls in the same age range. Dopaminergic neuronal activity was investigated using [11C] CFT‐ and [11C] raclopride‐PET. All GBA mutation carriers displayed a significant CMRGlc decrease in the supplemental motor area (SMA). The carriers with parkinsonism showed additional hypometabolism in the parietooccipital cortices. The CFT and raclopride PET images in the asymptomatic carriers demonstrated the CFT binding to be within normal values in the putamen and a significant increase was observed in the caudate nucleus while raclopride binding in the striatum was in the normal range. An advanced parkinsonian carrier showed decreased CFT binding and increased raclopride binding in the striatum. The decreased CMRGlc in the SMA was characteristic of the GBA mutation carriers. The hypometabolism in the SMA may, therefore, be involved in the clinical characteristics of parkinsonism associated with GBA mutations when the carriers manifest parkinsonism. © 2010 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Japon</li></country><settlement><li>Tokyo</li></settlement></list><tree><country name="Japon"><noRegion><name sortKey="Kono, Satoshi" sort="Kono, Satoshi" uniqKey="Kono S" first="Satoshi" last="Kono">Satoshi Kono</name></noRegion><name sortKey="Ida, Hiroyuki" sort="Ida, Hiroyuki" uniqKey="Ida H" first="Hiroyuki" last="Ida">Hiroyuki Ida</name><name sortKey="Miyajima, Hiroaki" sort="Miyajima, Hiroaki" uniqKey="Miyajima H" first="Hiroaki" last="Miyajima">Hiroaki Miyajima</name><name sortKey="Ouchi, Yasuomi" sort="Ouchi, Yasuomi" uniqKey="Ouchi Y" first="Yasuomi" last="Ouchi">Yasuomi Ouchi</name><name sortKey="Suzuki, Makiko" sort="Suzuki, Makiko" uniqKey="Suzuki M" first="Makiko" last="Suzuki">Makiko Suzuki</name><name sortKey="Terada, Tatsuhiro" sort="Terada, Tatsuhiro" uniqKey="Terada T" first="Tatsuhiro" last="Terada">Tatsuhiro Terada</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/ParkinsonV1/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000710 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 000710 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Sante
|area= ParkinsonV1
|flux= Main
|étape= Exploration
|type= RBID
|clé= ISTEX:82A7287278954A788ED5829956D2D31187F8D4CD
|texte= Functional brain imaging in glucocerebrosidase mutation carriers with and without Parkinsonism
}}
| This area was generated with Dilib version V0.6.23. |  |