Transcranial sonography in patients with Parkinson's disease with glucocerebrosidase mutations.
Identifieur interne : 000391 ( Ncbi/Merge ); précédent : 000390; suivant : 000392Transcranial sonography in patients with Parkinson's disease with glucocerebrosidase mutations.
Auteurs : Nikola Kresojevi [Serbie] ; Milija Mijajlovi ; Stojan Peri ; Aleksandra Pavlovi ; Marina Svetel ; Milena Jankovi ; Valerija Dobri ; Ivana Novakovi ; Milan. Lako ; Christine Klein ; Vladimir. KostiSource :
- Parkinsonism & related disorders ; 2013.
English descriptors
- KwdEn :
- Adult, Female, Gaucher Disease (complications), Gaucher Disease (genetics), Gaucher Disease (ultrasonography), Glucosylceramidase (genetics), Humans, Male, Middle Aged, Mutation, Parkinson Disease (complications), Parkinson Disease (genetics), Parkinson Disease (ultrasonography), Ultrasonography, Doppler, Transcranial.
- MESH :
- chemical , genetics : Glucosylceramidase.
- complications : Gaucher Disease, Parkinson Disease.
- genetics : Gaucher Disease, Parkinson Disease.
- ultrasonography : Gaucher Disease, Parkinson Disease.
- Adult, Female, Humans, Male, Middle Aged, Mutation, Ultrasonography, Doppler, Transcranial.
Abstract
The aim of this study was to search for possible differences in the findings of transcranial sonography (TCS) between groups of patients with glucocerebrosidase (GBA)-associated Parkinson's disease (PD) (4 patients with Gaucher disease type 1 and parkinsonism [GD+PD+] and 18 PD patients with heterozygous GBA mutations; [GBA+PD+]) and groups of 12 patients with Gaucher disease type 1 and no signs of parkinsonism (GD+PD-), 9 asymptomatic carriers of heterozygous GBA mutations (GBA+PD-), 32 sporadic PD patients (sPD), and 43 healthy controls.
DOI: 10.1016/j.parkreldis.2012.12.006
PubMed: 23332636
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Transcranial sonography in patients with Parkinson's disease with glucocerebrosidase mutations.</title><author><name sortKey="Kresojevi, Nikola" sort="Kresojevi, Nikola" uniqKey="Kresojevi N" first="Nikola" last="Kresojevi">Nikola Kresojevi</name><affiliation wicri:level="1"><nlm:affiliation>Clinic for Neurology CCS, School of Medicine, University of Belgrade, Serbia.</nlm:affiliation><country xml:lang="fr">Serbie</country><wicri:regionArea>Clinic for Neurology CCS, School of Medicine, University of Belgrade</wicri:regionArea><wicri:noRegion>University of Belgrade</wicri:noRegion></affiliation></author><author><name sortKey="Mijajlovi, Milija" sort="Mijajlovi, Milija" uniqKey="Mijajlovi M" first="Milija" last="Mijajlovi">Milija Mijajlovi</name></author><author><name sortKey="Peri, Stojan" sort="Peri, Stojan" uniqKey="Peri S" first="Stojan" last="Peri">Stojan Peri</name></author><author><name sortKey="Pavlovi, Aleksandra" sort="Pavlovi, Aleksandra" uniqKey="Pavlovi A" first="Aleksandra" last="Pavlovi">Aleksandra Pavlovi</name></author><author><name sortKey="Svetel, Marina" sort="Svetel, Marina" uniqKey="Svetel M" first="Marina" last="Svetel">Marina Svetel</name></author><author><name sortKey="Jankovi, Milena" sort="Jankovi, Milena" uniqKey="Jankovi M" first="Milena" last="Jankovi">Milena Jankovi</name></author><author><name sortKey="Dobri I, Valerija" sort="Dobri I, Valerija" uniqKey="Dobri I V" first="Valerija" last="Dobri">Valerija Dobri</name></author><author><name sortKey="Novakovi, Ivana" sort="Novakovi, Ivana" uniqKey="Novakovi I" first="Ivana" last="Novakovi">Ivana Novakovi</name></author><author><name sortKey="Lako Evi, Milan B" sort="Lako Evi, Milan B" uniqKey="Lako Evi M" first="Milan" last="Lako">Milan. Lako</name></author><author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name></author><author><name sortKey="Kosti, Vladimir S" sort="Kosti, Vladimir S" uniqKey="Kosti V" first="Vladimir" last="Kosti">Vladimir. Kosti</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2013">2013</date><idno type="doi">10.1016/j.parkreldis.2012.12.006</idno><idno type="RBID">pubmed:23332636</idno><idno type="pmid">23332636</idno><idno type="wicri:Area/PubMed/Corpus">000047</idno><idno type="wicri:Area/PubMed/Curation">000047</idno><idno type="wicri:Area/PubMed/Checkpoint">000040</idno><idno type="wicri:Area/Ncbi/Merge">000391</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Transcranial sonography in patients with Parkinson's disease with glucocerebrosidase mutations.</title><author><name sortKey="Kresojevi, Nikola" sort="Kresojevi, Nikola" uniqKey="Kresojevi N" first="Nikola" last="Kresojevi">Nikola Kresojevi</name><affiliation wicri:level="1"><nlm:affiliation>Clinic for Neurology CCS, School of Medicine, University of Belgrade, Serbia.</nlm:affiliation><country xml:lang="fr">Serbie</country><wicri:regionArea>Clinic for Neurology CCS, School of Medicine, University of Belgrade</wicri:regionArea><wicri:noRegion>University of Belgrade</wicri:noRegion></affiliation></author><author><name sortKey="Mijajlovi, Milija" sort="Mijajlovi, Milija" uniqKey="Mijajlovi M" first="Milija" last="Mijajlovi">Milija Mijajlovi</name></author><author><name sortKey="Peri, Stojan" sort="Peri, Stojan" uniqKey="Peri S" first="Stojan" last="Peri">Stojan Peri</name></author><author><name sortKey="Pavlovi, Aleksandra" sort="Pavlovi, Aleksandra" uniqKey="Pavlovi A" first="Aleksandra" last="Pavlovi">Aleksandra Pavlovi</name></author><author><name sortKey="Svetel, Marina" sort="Svetel, Marina" uniqKey="Svetel M" first="Marina" last="Svetel">Marina Svetel</name></author><author><name sortKey="Jankovi, Milena" sort="Jankovi, Milena" uniqKey="Jankovi M" first="Milena" last="Jankovi">Milena Jankovi</name></author><author><name sortKey="Dobri I, Valerija" sort="Dobri I, Valerija" uniqKey="Dobri I V" first="Valerija" last="Dobri">Valerija Dobri</name></author><author><name sortKey="Novakovi, Ivana" sort="Novakovi, Ivana" uniqKey="Novakovi I" first="Ivana" last="Novakovi">Ivana Novakovi</name></author><author><name sortKey="Lako Evi, Milan B" sort="Lako Evi, Milan B" uniqKey="Lako Evi M" first="Milan" last="Lako">Milan. Lako</name></author><author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name></author><author><name sortKey="Kosti, Vladimir S" sort="Kosti, Vladimir S" uniqKey="Kosti V" first="Vladimir" last="Kosti">Vladimir. Kosti</name></author></analytic><series><title level="j">Parkinsonism & related disorders</title><idno type="e-ISSN">1873-5126</idno><imprint><date when="2013" type="published">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Female</term><term>Gaucher Disease (complications)</term><term>Gaucher Disease (genetics)</term><term>Gaucher Disease (ultrasonography)</term><term>Glucosylceramidase (genetics)</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Mutation</term><term>Parkinson Disease (complications)</term><term>Parkinson Disease (genetics)</term><term>Parkinson Disease (ultrasonography)</term><term>Ultrasonography, Doppler, Transcranial</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Glucosylceramidase</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Gaucher Disease</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Gaucher Disease</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="ultrasonography" xml:lang="en"><term>Gaucher Disease</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Mutation</term><term>Ultrasonography, Doppler, Transcranial</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The aim of this study was to search for possible differences in the findings of transcranial sonography (TCS) between groups of patients with glucocerebrosidase (GBA)-associated Parkinson's disease (PD) (4 patients with Gaucher disease type 1 and parkinsonism [GD+PD+] and 18 PD patients with heterozygous GBA mutations; [GBA+PD+]) and groups of 12 patients with Gaucher disease type 1 and no signs of parkinsonism (GD+PD-), 9 asymptomatic carriers of heterozygous GBA mutations (GBA+PD-), 32 sporadic PD patients (sPD), and 43 healthy controls.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">23332636</PMID><DateCreated><Year>2013</Year><Month>03</Month><Day>22</Day></DateCreated><DateCompleted><Year>2013</Year><Month>09</Month><Day>06</Day></DateCompleted><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1873-5126</ISSN><JournalIssue CitedMedium="Internet"><Volume>19</Volume><Issue>4</Issue><PubDate><Year>2013</Year><Month>Apr</Month></PubDate></JournalIssue><Title>Parkinsonism & related disorders</Title><ISOAbbreviation>Parkinsonism Relat. Disord.</ISOAbbreviation></Journal><ArticleTitle>Transcranial sonography in patients with Parkinson's disease with glucocerebrosidase mutations.</ArticleTitle><Pagination><MedlinePgn>431-5</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1016/j.parkreldis.2012.12.006</ELocationID><ELocationID EIdType="pii" ValidYN="Y">S1353-8020(13)00003-5</ELocationID><Abstract><AbstractText Label="OBJECTIVES" NlmCategory="OBJECTIVE">The aim of this study was to search for possible differences in the findings of transcranial sonography (TCS) between groups of patients with glucocerebrosidase (GBA)-associated Parkinson's disease (PD) (4 patients with Gaucher disease type 1 and parkinsonism [GD+PD+] and 18 PD patients with heterozygous GBA mutations; [GBA+PD+]) and groups of 12 patients with Gaucher disease type 1 and no signs of parkinsonism (GD+PD-), 9 asymptomatic carriers of heterozygous GBA mutations (GBA+PD-), 32 sporadic PD patients (sPD), and 43 healthy controls.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">In all groups of patients, except asymptomatic carriers of heterozygous GBA mutations (mean ± SD: 0.16 ± 0.03 cm(2)), the maximal areas of substantia nigra hyperechogenicity (aSN-max) was higher (GD+PD+: 0.28 ± 0.15 cm(2); GD+PD-: 0.18 ± 0.06 cm(2); GBA+PD+: 0.27 ± 0.06 cm(2); sPD: 0.28 ± 0.10 cm(2)) when compared to controls (0.12 ± 0.08 cm(2)) (p = 0.001). In GBA-associated PD (GD+PD+ and GBA+PD+) and sPD, aSNmax values were very similar. Moderate or marked SN hyperechogenicity was present in 87.5% of sPD patients and in 83% of PD patients with heterozygous GBA mutations, but in only 11.6% of controls, and in 22.2% and 33.3% of patients from GBA+PD- and GD+PD- groups, respectively (p < 0.001). The prevalence of interrupted or missing echogenicity of the brainstem raphe differed between the groups (p = 0.046), while no difference was observed in the diameter of the third ventricle.</AbstractText><AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">TCS findings in GBA-associated PD were consistent to those of patients with sporadic PD.</AbstractText><CopyrightInformation>Copyright © 2013 Elsevier Ltd. All rights reserved.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Kresojević</LastName><ForeName>Nikola</ForeName><Initials>N</Initials><AffiliationInfo><Affiliation>Clinic for Neurology CCS, School of Medicine, University of Belgrade, Serbia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Mijajlović</LastName><ForeName>Milija</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Perić</LastName><ForeName>Stojan</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Pavlović</LastName><ForeName>Aleksandra</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Svetel</LastName><ForeName>Marina</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Janković</LastName><ForeName>Milena</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Dobričić</LastName><ForeName>Valerija</ForeName><Initials>V</Initials></Author><Author ValidYN="Y"><LastName>Novaković</LastName><ForeName>Ivana</ForeName><Initials>I</Initials></Author><Author ValidYN="Y"><LastName>Lakočević</LastName><ForeName>Milan B</ForeName><Initials>MB</Initials></Author><Author ValidYN="Y"><LastName>Klein</LastName><ForeName>Christine</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Kostić</LastName><ForeName>Vladimir S</ForeName><Initials>VS</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2013</Year><Month>01</Month><Day>16</Day></ArticleDate></Article><MedlineJournalInfo><Country>England</Country><MedlineTA>Parkinsonism Relat Disord</MedlineTA><NlmUniqueID>9513583</NlmUniqueID><ISSNLinking>1353-8020</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="D000328">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005776">Gaucher Disease</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000150">complications</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000736">ultrasonography</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="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="Y" UI="D009154">Mutation</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010300">Parkinson Disease</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000150">complications</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000736">ultrasonography</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="Y" UI="D017585">Ultrasonography, Doppler, Transcranial</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2012</Year><Month>7</Month><Day>25</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2012</Year><Month>11</Month><Day>22</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2012</Year><Month>12</Month><Day>13</Day></PubMedPubDate><PubMedPubDate PubStatus="aheadofprint"><Year>2013</Year><Month>1</Month><Day>16</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2013</Year><Month>1</Month><Day>22</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2013</Year><Month>1</Month><Day>22</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2013</Year><Month>9</Month><Day>7</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pii">S1353-8020(13)00003-5</ArticleId><ArticleId IdType="doi">10.1016/j.parkreldis.2012.12.006</ArticleId><ArticleId IdType="pubmed">23332636</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Serbie</li></country></list><tree><noCountry><name sortKey="Dobri I, Valerija" sort="Dobri I, Valerija" uniqKey="Dobri I V" first="Valerija" last="Dobri">Valerija Dobri</name><name sortKey="Jankovi, Milena" sort="Jankovi, Milena" uniqKey="Jankovi M" first="Milena" last="Jankovi">Milena Jankovi</name><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><name sortKey="Kosti, Vladimir S" sort="Kosti, Vladimir S" uniqKey="Kosti V" first="Vladimir" last="Kosti">Vladimir. Kosti</name><name sortKey="Lako Evi, Milan B" sort="Lako Evi, Milan B" uniqKey="Lako Evi M" first="Milan" last="Lako">Milan. Lako</name><name sortKey="Mijajlovi, Milija" sort="Mijajlovi, Milija" uniqKey="Mijajlovi M" first="Milija" last="Mijajlovi">Milija Mijajlovi</name><name sortKey="Novakovi, Ivana" sort="Novakovi, Ivana" uniqKey="Novakovi I" first="Ivana" last="Novakovi">Ivana Novakovi</name><name sortKey="Pavlovi, Aleksandra" sort="Pavlovi, Aleksandra" uniqKey="Pavlovi A" first="Aleksandra" last="Pavlovi">Aleksandra Pavlovi</name><name sortKey="Peri, Stojan" sort="Peri, Stojan" uniqKey="Peri S" first="Stojan" last="Peri">Stojan Peri</name><name sortKey="Svetel, Marina" sort="Svetel, Marina" uniqKey="Svetel M" first="Marina" last="Svetel">Marina Svetel</name></noCountry><country name="Serbie"><noRegion><name sortKey="Kresojevi, Nikola" sort="Kresojevi, Nikola" uniqKey="Kresojevi N" first="Nikola" last="Kresojevi">Nikola Kresojevi</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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