Functional brain imaging in glucocerebrosidase mutation carriers with and without parkinsonism.
Identifieur interne : 001693 ( PubMed/Curation ); précédent : 001692; suivant : 001694Functional brain imaging in glucocerebrosidase mutation carriers with and without parkinsonism.
Auteurs : Satoshi Kono [Japon] ; Yasuomi Ouchi ; Tatsuhiro Terada ; Hiroyuki Ida ; Makiko Suzuki ; Hiroaki MiyajimaSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2010.
English descriptors
- KwdEn :
- Brain (physiopathology), Brain (radionuclide imaging), Brain Mapping, Female, Gaucher Disease (genetics), Gaucher Disease (physiopathology), Gaucher Disease (radionuclide imaging), Glucosylceramidase (genetics), Humans, Image Processing, Computer-Assisted, Male, Mutation, Neurons (radionuclide imaging), Neuropsychological Tests, Parkinsonian Disorders (genetics), Parkinsonian Disorders (physiopathology), Parkinsonian Disorders (radionuclide imaging), Positron-Emission Tomography.
- MESH :
- chemical , genetics : Glucosylceramidase.
- genetics : Gaucher Disease, Parkinsonian Disorders.
- physiopathology : Brain, Gaucher Disease, Parkinsonian Disorders.
- radionuclide imaging : Brain, Gaucher Disease, Neurons, Parkinsonian Disorders.
- Brain Mapping, Female, Humans, Image Processing, Computer-Assisted, Male, Mutation, Neuropsychological Tests, Positron-Emission Tomography.
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. [(18)F]-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 [(11)C] CFT- and [(11)C] 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.
DOI: 10.1002/mds.23213
PubMed: 20669267
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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">PubMed</idno><date when="2010">2010</date><idno type="doi">10.1002/mds.23213</idno><idno type="RBID">pubmed:20669267</idno><idno type="pmid">20669267</idno><idno type="wicri:Area/PubMed/Corpus">001693</idno><idno type="wicri:Area/PubMed/Curation">001693</idno></publicationStmt><sourceDesc><biblStruct><analytic><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><affiliation wicri:level="1"><nlm:affiliation>First Department of Medicine, Hamamatsu University School of Medicine, Handayama, Hamamatsu, Japan. satokono@hama-med.ac.jp</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>First Department of Medicine, Hamamatsu University School of Medicine, Handayama, Hamamatsu</wicri:regionArea></affiliation></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></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2010" type="published">2010</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Brain (physiopathology)</term><term>Brain (radionuclide imaging)</term><term>Brain Mapping</term><term>Female</term><term>Gaucher Disease (genetics)</term><term>Gaucher Disease (physiopathology)</term><term>Gaucher Disease (radionuclide imaging)</term><term>Glucosylceramidase (genetics)</term><term>Humans</term><term>Image Processing, Computer-Assisted</term><term>Male</term><term>Mutation</term><term>Neurons (radionuclide imaging)</term><term>Neuropsychological Tests</term><term>Parkinsonian Disorders (genetics)</term><term>Parkinsonian Disorders (physiopathology)</term><term>Parkinsonian Disorders (radionuclide imaging)</term><term>Positron-Emission Tomography</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Glucosylceramidase</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Gaucher Disease</term><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Brain</term><term>Gaucher Disease</term><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" qualifier="radionuclide imaging" xml:lang="en"><term>Brain</term><term>Gaucher Disease</term><term>Neurons</term><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Brain Mapping</term><term>Female</term><term>Humans</term><term>Image Processing, Computer-Assisted</term><term>Male</term><term>Mutation</term><term>Neuropsychological Tests</term><term>Positron-Emission Tomography</term></keywords></textClass></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. [(18)F]-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 [(11)C] CFT- and [(11)C] 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.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">20669267</PMID><DateCreated><Year>2010</Year><Month>09</Month><Day>14</Day></DateCreated><DateCompleted><Year>2010</Year><Month>12</Month><Day>28</Day></DateCompleted><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>25</Volume><Issue>12</Issue><PubDate><Year>2010</Year><Month>Sep</Month><Day>15</Day></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Functional brain imaging in glucocerebrosidase mutation carriers with and without parkinsonism.</ArticleTitle><Pagination><MedlinePgn>1823-9</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.23213</ELocationID><Abstract><AbstractText>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. [(18)F]-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 [(11)C] CFT- and [(11)C] 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.</AbstractText><CopyrightInformation>© 2010 Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Kono</LastName><ForeName>Satoshi</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>First Department of Medicine, Hamamatsu University School of Medicine, Handayama, Hamamatsu, Japan. satokono@hama-med.ac.jp</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ouchi</LastName><ForeName>Yasuomi</ForeName><Initials>Y</Initials></Author><Author ValidYN="Y"><LastName>Terada</LastName><ForeName>Tatsuhiro</ForeName><Initials>T</Initials></Author><Author ValidYN="Y"><LastName>Ida</LastName><ForeName>Hiroyuki</ForeName><Initials>H</Initials></Author><Author ValidYN="Y"><LastName>Suzuki</LastName><ForeName>Makiko</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Miyajima</LastName><ForeName>Hiroaki</ForeName><Initials>H</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>EC 3.2.1.45</RegistryNumber><NameOfSubstance UI="D005962">Glucosylceramidase</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D001921">Brain</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000503">physiopathology</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000531">radionuclide imaging</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D001931">Brain Mapping</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005776">Gaucher Disease</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="N" UI="Q000503">physiopathology</QualifierName><QualifierName MajorTopicYN="N" UI="Q000531">radionuclide imaging</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005962">Glucosylceramidase</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D007091">Image Processing, Computer-Assisted</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009154">Mutation</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009474">Neurons</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000531">radionuclide imaging</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009483">Neuropsychological Tests</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020734">Parkinsonian Disorders</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="N" UI="Q000503">physiopathology</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000531">radionuclide imaging</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D049268">Positron-Emission Tomography</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="entrez"><Year>2010</Year><Month>7</Month><Day>30</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2010</Year><Month>7</Month><Day>30</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2010</Year><Month>12</Month><Day>29</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.23213</ArticleId><ArticleId IdType="pubmed">20669267</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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