Substantia nigra hyperechogenicity with LRRK2 G2019S mutations
Identifieur interne : 000805 ( Istex/Corpus ); précédent : 000804; suivant : 000806Substantia nigra hyperechogenicity with LRRK2 G2019S mutations
Auteurs : Norbert Brüggemann ; Johann Hagenah ; Kaili Stanley ; Christine Klein ; Cuiling Wang ; Deborah Raymond ; Laurie Ozelius ; Susan Bressman ; Rachel Saunders-PullmanSource :
- Movement Disorders [ 0885-3185 ] ; 2011-04.
English descriptors
Abstract
Background:: Transcranial sonography (TCS) area of hyperechogenicity in the substantia nigra (aSN) is increased in idiopathic and genetic Parkinson's disease (PD). Methods:: We performed TCS in 34 LRRK2 G2019S mutation carriers manifesting PD, 24 non‐manifesting mutation carriers, and 28 idiopathic PD patients and compared them with 40 healthy controls (total, n = 126). Results:: Compared with the controls (mean 0.15 cm2), the aSN values in all other groups were increased. The mean aSN was 0.23 cm2 in nonmanifesting mutation carriers (P = .015), 0.34 cm2 in idiopathic PD patients (P < .0001), 0.32 cm2 in LRRK2‐associated PD patients (P < .0001), and 0.33 cm2 in the overall PD group (P < .0001). LRRK2‐associated PD patients had a higher aSN than did nonmanifesting carriers (P = .011), but there was no significant difference in aSN between patients with idiopathic and LRRK2‐associated PD (P = .439). Conclusions:: Our results suggest that SN pathoanatomical alterations may not be substantially different between idiopathic and LRRK2‐associated PD. The findings in the nonmanifesting mutation carriers suggest the presence of intermediate nigrostriatal pathology consistent with the age‐dependent reduced penetrance of this mutation. © 2011 Movement Disorder Society
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DOI: 10.1002/mds.23644
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Neurology, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Stanley, Kaili" sort="Stanley, Kaili" uniqKey="Stanley K" first="Kaili" last="Stanley">Kaili Stanley</name><affiliation><mods:affiliation>Department of Neurology, Beth Israel Medical Center, New York, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><affiliation><mods:affiliation>Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Wang, Cuiling" sort="Wang, Cuiling" uniqKey="Wang C" first="Cuiling" last="Wang">Cuiling Wang</name><affiliation><mods:affiliation>Department of Neurology, 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Germany</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Stanley, Kaili" sort="Stanley, Kaili" uniqKey="Stanley K" first="Kaili" last="Stanley">Kaili Stanley</name><affiliation><mods:affiliation>Department of Neurology, Beth Israel Medical Center, New York, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><affiliation><mods:affiliation>Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Wang, Cuiling" sort="Wang, Cuiling" uniqKey="Wang C" first="Cuiling" last="Wang">Cuiling Wang</name><affiliation><mods:affiliation>Department of Neurology, Albert Einstein College of Medicine, Bronx, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Raymond, Deborah" sort="Raymond, Deborah" uniqKey="Raymond D" first="Deborah" last="Raymond">Deborah Raymond</name><affiliation><mods:affiliation>Department of Neurology, Beth Israel Medical Center, New York, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Ozelius, Laurie" sort="Ozelius, Laurie" uniqKey="Ozelius L" first="Laurie" last="Ozelius">Laurie Ozelius</name><affiliation><mods:affiliation>Department of Genetics, Mount Sinai School of Medicine, New York, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Bressman, Susan" sort="Bressman, Susan" uniqKey="Bressman S" first="Susan" last="Bressman">Susan Bressman</name><affiliation><mods:affiliation>Department of Neurology, Beth Israel Medical Center, New York, New York, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Neurology, Albert Einstein College of Medicine, Bronx, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Saunders Ullman, Rachel" sort="Saunders Ullman, Rachel" uniqKey="Saunders Ullman R" first="Rachel" last="Saunders-Pullman">Rachel Saunders-Pullman</name><affiliation><mods:affiliation>Department of Neurology, Beth Israel Medical Center, New York, New York, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Genetics, Mount Sinai School of Medicine, New York, New York, USA</mods:affiliation></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="2011-04">2011-04</date><biblScope unit="vol">26</biblScope><biblScope unit="issue">5</biblScope><biblScope unit="page" from="885">885</biblScope><biblScope unit="page" to="888">888</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">33AAF2B1EE8DE03884266ECF62DC2DD248BE8034</idno><idno type="DOI">10.1002/mds.23644</idno><idno type="ArticleID">MDS23644</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>LRRK2</term><term>Parkinson's disease</term><term>Substantia nigra</term><term>Transcranial sonography (TCS)</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Background:: Transcranial sonography (TCS) area of hyperechogenicity in the substantia nigra (aSN) is increased in idiopathic and genetic Parkinson's disease (PD). Methods:: We performed TCS in 34 LRRK2 G2019S mutation carriers manifesting PD, 24 non‐manifesting mutation carriers, and 28 idiopathic PD patients and compared them with 40 healthy controls (total, n = 126). Results:: Compared with the controls (mean 0.15 cm2), the aSN values in all other groups were increased. The mean aSN was 0.23 cm2 in nonmanifesting mutation carriers (P = .015), 0.34 cm2 in idiopathic PD patients (P < .0001), 0.32 cm2 in LRRK2‐associated PD patients (P < .0001), and 0.33 cm2 in the overall PD group (P < .0001). LRRK2‐associated PD patients had a higher aSN than did nonmanifesting carriers (P = .011), but there was no significant difference in aSN between patients with idiopathic and LRRK2‐associated PD (P = .439). Conclusions:: Our results suggest that SN pathoanatomical alterations may not be substantially different between idiopathic and LRRK2‐associated PD. The findings in the nonmanifesting mutation carriers suggest the presence of intermediate nigrostriatal pathology consistent with the age‐dependent reduced penetrance of this mutation. © 2011 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Norbert Brüggemann MD</name><affiliations><json:string>Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Lübeck, Lübeck, Germany</json:string><json:string>Department of Neurology, University of Lübeck, Lübeck, Germany</json:string></affiliations></json:item><json:item><name>Johann Hagenah MD</name><affiliations><json:string>Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Lübeck, Lübeck, Germany</json:string><json:string>Department of Neurology, University of Lübeck, Lübeck, Germany</json:string></affiliations></json:item><json:item><name>Kaili Stanley MA</name><affiliations><json:string>Department of Neurology, Beth Israel Medical Center, New York, New York, USA</json:string></affiliations></json:item><json:item><name>Christine Klein MD</name><affiliations><json:string>Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Lübeck, Lübeck, Germany</json:string><json:string>Department of Neurology, University of Lübeck, Lübeck, Germany</json:string></affiliations></json:item><json:item><name>Cuiling Wang</name><affiliations><json:string>Department of Neurology, Albert Einstein College of Medicine, Bronx, New York, USA</json:string></affiliations></json:item><json:item><name>Deborah Raymond MS</name><affiliations><json:string>Department of Neurology, Beth Israel Medical Center, New York, New York, USA</json:string></affiliations></json:item><json:item><name>Laurie Ozelius PhD</name><affiliations><json:string>Department of Genetics, Mount Sinai School of Medicine, New York, New York, USA</json:string></affiliations></json:item><json:item><name>Susan Bressman MD</name><affiliations><json:string>Department of Neurology, Beth Israel Medical Center, New York, New York, USA</json:string><json:string>Department of Neurology, Albert Einstein College of Medicine, Bronx, New York, USA</json:string></affiliations></json:item><json:item><name>Rachel Saunders‐Pullman MD</name><affiliations><json:string>Department of Neurology, Beth Israel Medical Center, New York, New York, USA</json:string><json:string>Department of Genetics, Mount Sinai School of Medicine, New York, New York, USA</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>Transcranial sonography (TCS)</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Parkinson's disease</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>LRRK2</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Substantia nigra</value></json:item></subject><language><json:string>eng</json:string></language><abstract>Background:: Transcranial sonography (TCS) area of hyperechogenicity in the substantia nigra (aSN) is increased in idiopathic and genetic Parkinson's disease (PD). Methods:: We performed TCS in 34 LRRK2 G2019S mutation carriers manifesting PD, 24 non‐manifesting mutation carriers, and 28 idiopathic PD patients and compared them with 40 healthy controls (total, n = 126). Results:: Compared with the controls (mean 0.15 cm2), the aSN values in all other groups were increased. The mean aSN was 0.23 cm2 in nonmanifesting mutation carriers (P = .015), 0.34 cm2 in idiopathic PD patients (P > .0001), 0.32 cm2 in LRRK2‐associated PD patients (P > .0001), and 0.33 cm2 in the overall PD group (P > .0001). LRRK2‐associated PD patients had a higher aSN than did nonmanifesting carriers (P = .011), but there was no significant difference in aSN between patients with idiopathic and LRRK2‐associated PD (P = .439). Conclusions:: Our results suggest that SN pathoanatomical alterations may not be substantially different between idiopathic and LRRK2‐associated PD. The findings in the nonmanifesting mutation carriers suggest the presence of intermediate nigrostriatal pathology consistent with the age‐dependent reduced penetrance of this mutation. © 2011 Movement Disorder Society</abstract><qualityIndicators><score>7.28</score><pdfVersion>1.3</pdfVersion><pdfPageSize>612 x 810 pts</pdfPageSize><refBibsNative>true</refBibsNative><abstractCharCount>1277</abstractCharCount><pdfWordCount>17232</pdfWordCount><pdfCharCount>110789</pdfCharCount><pdfPageCount>28</pdfPageCount><abstractWordCount>190</abstractWordCount></qualityIndicators><title>Substantia nigra hyperechogenicity with LRRK2 G2019S mutations</title><genre><json:string>Serial article</json:string></genre><host><volume>26</volume><pages><total>4</total><last>888</last><first>885</first></pages><issn><json:string>0885-3185</json:string></issn><issue>5</issue><subject><json:item><value>Brief Report</value></json:item></subject><genre></genre><language><json:string>unknown</json:string></language><title>Movement Disorders</title><doi><json:string>10.1002/(ISSN)1531-8257</json:string></doi></host><publicationDate>2011</publicationDate><copyrightDate>2011</copyrightDate><doi><json:string>10.1002/mds.23644</json:string></doi><id>33AAF2B1EE8DE03884266ECF62DC2DD248BE8034</id><fulltext><json:item><original>true</original><mimetype>application/pdf</mimetype><extension>pdf</extension><uri>https://api.istex.fr/document/33AAF2B1EE8DE03884266ECF62DC2DD248BE8034/fulltext/pdf</uri></json:item><json:item><original>false</original><mimetype>application/zip</mimetype><extension>zip</extension><uri>https://api.istex.fr/document/33AAF2B1EE8DE03884266ECF62DC2DD248BE8034/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/33AAF2B1EE8DE03884266ECF62DC2DD248BE8034/fulltext/tei"><teiHeader type="text"><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Substantia nigra hyperechogenicity with LRRK2 G2019S mutations</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><availability><p>Wiley Subscription Services, Inc., A Wiley Company</p></availability><date>2011</date></publicationStmt><notesStmt><note type="content">*Norbert Brüggemann and Johann Hagenah contributed equally to this article.</note><note type="content">*Relevant conflicts of interest/financial disclosures: Nothing to report.</note><note>Michael J. Fox Foundation, the National Institute of Neurological Disorders and Stroke - No. K23NS047256;</note><note>Thomas Hartman Foundation for Parkinson's Research, the Volkswagen Foundation, and the Hermann and Lilly Schilling Foundation</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Substantia nigra hyperechogenicity with LRRK2 G2019S mutations</title><author><persName><forename type="first">Norbert</forename><surname>Brüggemann</surname><roleName type="degree">MD</roleName></persName><affiliation>Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Lübeck, Lübeck, Germany</affiliation><affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</affiliation></author><author><persName><forename type="first">Johann</forename><surname>Hagenah</surname><roleName type="degree">MD</roleName></persName><note type="correspondence"><p>Correspondence: Department of Neurology, University of Lübeck, Ratzeburger Allee 160, 23538 Lübeck, Germany</p></note><affiliation>Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Lübeck, Lübeck, Germany</affiliation><affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</affiliation></author><author><persName><forename type="first">Kaili</forename><surname>Stanley</surname><roleName type="degree">MA</roleName></persName><affiliation>Department of Neurology, Beth Israel Medical Center, New York, New York, USA</affiliation></author><author><persName><forename type="first">Christine</forename><surname>Klein</surname><roleName type="degree">MD</roleName></persName><affiliation>Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Lübeck, Lübeck, Germany</affiliation><affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</affiliation></author><author><persName><forename type="first">Cuiling</forename><surname>Wang</surname></persName><affiliation>Department of Neurology, Albert Einstein College of Medicine, Bronx, New York, USA</affiliation></author><author><persName><forename type="first">Deborah</forename><surname>Raymond</surname><roleName type="degree">MS</roleName></persName><affiliation>Department of Neurology, Beth Israel Medical Center, New York, New York, USA</affiliation></author><author><persName><forename type="first">Laurie</forename><surname>Ozelius</surname><roleName type="degree">PhD</roleName></persName><affiliation>Department of Genetics, Mount Sinai School of Medicine, New York, New York, USA</affiliation></author><author><persName><forename type="first">Susan</forename><surname>Bressman</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Neurology, Beth Israel Medical Center, New York, New York, USA</affiliation><affiliation>Department of Neurology, Albert Einstein College of Medicine, Bronx, New York, USA</affiliation></author><author><persName><forename type="first">Rachel</forename><surname>Saunders‐Pullman</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Neurology, Beth Israel Medical Center, New York, New York, USA</affiliation><affiliation>Department of Genetics, Mount Sinai School of Medicine, New York, New York, USA</affiliation></author></analytic><monogr><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="pISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><idno type="DOI">10.1002/(ISSN)1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2011-04"></date><biblScope unit="vol">26</biblScope><biblScope unit="issue">5</biblScope><biblScope unit="page" from="885">885</biblScope><biblScope unit="page" to="888">888</biblScope></imprint></monogr><idno type="istex">33AAF2B1EE8DE03884266ECF62DC2DD248BE8034</idno><idno type="DOI">10.1002/mds.23644</idno><idno type="ArticleID">MDS23644</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2011</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>Background:: Transcranial sonography (TCS) area of hyperechogenicity in the substantia nigra (aSN) is increased in idiopathic and genetic Parkinson's disease (PD). Methods:: We performed TCS in 34 LRRK2 G2019S mutation carriers manifesting PD, 24 non‐manifesting mutation carriers, and 28 idiopathic PD patients and compared them with 40 healthy controls (total, n = 126). Results:: Compared with the controls (mean 0.15 cm2), the aSN values in all other groups were increased. The mean aSN was 0.23 cm2 in nonmanifesting mutation carriers (P = .015), 0.34 cm2 in idiopathic PD patients (P < .0001), 0.32 cm2 in LRRK2‐associated PD patients (P < .0001), and 0.33 cm2 in the overall PD group (P < .0001). LRRK2‐associated PD patients had a higher aSN than did nonmanifesting carriers (P = .011), but there was no significant difference in aSN between patients with idiopathic and LRRK2‐associated PD (P = .439). Conclusions:: Our results suggest that SN pathoanatomical alterations may not be substantially different between idiopathic and LRRK2‐associated PD. The findings in the nonmanifesting mutation carriers suggest the presence of intermediate nigrostriatal pathology consistent with the age‐dependent reduced penetrance of this mutation. © 2011 Movement Disorder Society</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>Transcranial sonography (TCS)</term></item><item><term>Parkinson's disease</term></item><item><term>LRRK2</term></item><item><term>Substantia nigra</term></item></list></keywords></textClass><textClass><keywords scheme="Journal Subject"><list><head>Article category</head><item><term>Brief Report</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2010-08-11">Received</change><change when="2010-12-28">Registration</change><change when="2011-04">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/33AAF2B1EE8DE03884266ECF62DC2DD248BE8034/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Wiley Subscription Services, Inc., A Wiley Company</publisherName><publisherLoc>Hoboken</publisherLoc></publisherInfo><doi registered="yes">10.1002/(ISSN)1531-8257</doi><issn type="print">0885-3185</issn><issn type="electronic">1531-8257</issn><idGroup><id type="product" value="MDS"></id></idGroup><titleGroup><title type="main" xml:lang="en" sort="MOVEMENT DISORDERS">Movement Disorders</title><title type="short">Mov. Disord.</title></titleGroup></publicationMeta><publicationMeta level="part" position="50"><doi origin="wiley" registered="yes">10.1002/mds.v26.5</doi><numberingGroup><numbering type="journalVolume" number="26">26</numbering><numbering type="journalIssue">5</numbering></numberingGroup><coverDate startDate="2011-04">April 2011</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="210" status="forIssue"><doi origin="wiley" registered="yes">10.1002/mds.23644</doi><idGroup><id type="unit" value="MDS23644"></id></idGroup><countGroup><count type="pageTotal" number="4"></count></countGroup><titleGroup><title type="articleCategory">Brief Report</title><title type="tocHeading1">Brief Reports</title></titleGroup><copyright ownership="thirdParty">Copyright © 2011 Movement Disorder Society</copyright><eventGroup><event type="manuscriptReceived" date="2010-08-11"></event><event type="manuscriptRevised" date="2010-12-17"></event><event type="manuscriptAccepted" 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number="1"></count><count type="tableTotal" number="1"></count><count type="referenceTotal" number="22"></count><count type="wordTotal" number="3295"></count></countGroup><titleGroup><title type="main" xml:lang="en">Substantia nigra hyperechogenicity with <i>LRRK2</i> G2019S mutations<link href="#fn1"></link><link href="#fn2"></link></title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1 #af2"><personName><givenNames>Norbert</givenNames><familyName>Brüggemann</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af1 #af2" corresponding="yes"><personName><givenNames>Johann</givenNames><familyName>Hagenah</familyName><degrees>MD</degrees></personName><contactDetails><email normalForm="johann.hagenah@neuro.uni-luebeck.de">johann.hagenah@neuro.uni‐luebeck.de</email></contactDetails></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Kaili</givenNames><familyName>Stanley</familyName><degrees>MA</degrees></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af1 #af2"><personName><givenNames>Christine</givenNames><familyName>Klein</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Cuiling</givenNames><familyName>Wang</familyName></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Deborah</givenNames><familyName>Raymond</familyName><degrees>MS</degrees></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af5"><personName><givenNames>Laurie</givenNames><familyName>Ozelius</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au8" creatorRole="author" affiliationRef="#af3 #af4"><personName><givenNames>Susan</givenNames><familyName>Bressman</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au9" creatorRole="author" affiliationRef="#af3 #af5"><personName><givenNames>Rachel</givenNames><familyName>Saunders‐Pullman</familyName><degrees>MD</degrees></personName></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="DE" type="organization"><unparsedAffiliation>Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Lübeck, Lübeck, Germany</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="DE" type="organization"><unparsedAffiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="US" type="organization"><unparsedAffiliation>Department of Neurology, Beth Israel Medical Center, New York, New York, USA</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="US" type="organization"><unparsedAffiliation>Department of Neurology, Albert Einstein College of Medicine, Bronx, New York, USA</unparsedAffiliation></affiliation><affiliation xml:id="af5" countryCode="US" type="organization"><unparsedAffiliation>Department of Genetics, Mount Sinai School of Medicine, New York, New York, USA</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">Transcranial sonography (TCS)</keyword><keyword xml:id="kwd2">Parkinson's disease</keyword><keyword xml:id="kwd3">LRRK2</keyword><keyword xml:id="kwd4">Substantia nigra</keyword></keywordGroup><fundingInfo><fundingAgency>Michael J. Fox Foundation, the National Institute of Neurological Disorders and Stroke</fundingAgency><fundingNumber>K23NS047256</fundingNumber></fundingInfo><fundingInfo><fundingAgency>Thomas Hartman Foundation for Parkinson's Research, the Volkswagen Foundation, and the Hermann and Lilly Schilling Foundation</fundingAgency></fundingInfo><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><section xml:id="abs1-1"><title type="main">Background:</title><p>Transcranial sonography (TCS) area of hyperechogenicity in the substantia nigra (aSN) is increased in idiopathic and genetic Parkinson's disease (PD).</p></section><section xml:id="abs1-2"><title type="main">Methods:</title><p>We performed TCS in 34 <i>LRRK2</i> G2019S mutation carriers manifesting PD, 24 non‐manifesting mutation carriers, and 28 idiopathic PD patients and compared them with 40 healthy controls (total, n = 126).</p></section><section xml:id="abs1-3"><title type="main">Results:</title><p>Compared with the controls (mean 0.15 cm<sup>2</sup>), the aSN values in all other groups were increased. The mean aSN was 0.23 cm<sup>2</sup> in nonmanifesting mutation carriers (<i>P</i> = .015), 0.34 cm<sup>2</sup> in idiopathic PD patients (<i>P</i> < .0001), 0.32 cm<sup>2</sup> in <i>LRRK2</i>‐associated PD patients (<i>P</i> < .0001), and 0.33 cm<sup>2</sup> in the overall PD group (<i>P</i> < .0001). <i>LRRK2</i>‐associated PD patients had a higher aSN than did nonmanifesting carriers (<i>P</i> = .011), but there was no significant difference in aSN between patients with idiopathic and <i>LRRK2</i>‐associated PD (<i>P</i> = .439).</p></section><section xml:id="abs1-4"><title type="main">Conclusions:</title><p>Our results suggest that SN pathoanatomical alterations may not be substantially different between idiopathic and <i>LRRK2</i>‐associated PD. The findings in the nonmanifesting mutation carriers suggest the presence of intermediate nigrostriatal pathology consistent with the age‐dependent reduced penetrance of this mutation. © 2011 Movement Disorder Society</p></section></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn1"><p>Norbert Brüggemann and Johann Hagenah contributed equally to this article.</p></note><note xml:id="fn2"><p><b>Relevant conflicts of interest/financial disclosures:</b> Nothing to report.</p></note></noteGroup></header></component></istex:document></istex:metadataXml><!--Version 0.6 générée le 4-12-2015--><mods version="3.6"><titleInfo lang="en"><title>Substantia nigra hyperechogenicity with LRRK2 G2019S mutations</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Substantia nigra hyperechogenicity with</title></titleInfo><name type="personal"><namePart type="given">Norbert</namePart><namePart type="family">Brüggemann</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Lübeck, Lübeck, Germany</affiliation><affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Johann</namePart><namePart type="family">Hagenah</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Lübeck, Lübeck, Germany</affiliation><affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</affiliation><description>Correspondence: Department of Neurology, University of Lübeck, Ratzeburger Allee 160, 23538 Lübeck, Germany</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Kaili</namePart><namePart type="family">Stanley</namePart><namePart type="termsOfAddress">MA</namePart><affiliation>Department of Neurology, Beth Israel Medical Center, New York, New York, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Christine</namePart><namePart type="family">Klein</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Lübeck, Lübeck, Germany</affiliation><affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Cuiling</namePart><namePart type="family">Wang</namePart><affiliation>Department of Neurology, Albert Einstein College of Medicine, Bronx, New York, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Deborah</namePart><namePart type="family">Raymond</namePart><namePart type="termsOfAddress">MS</namePart><affiliation>Department of Neurology, Beth Israel Medical Center, New York, New York, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Laurie</namePart><namePart type="family">Ozelius</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Genetics, Mount Sinai School of Medicine, New York, New York, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Susan</namePart><namePart type="family">Bressman</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Beth Israel Medical Center, New York, New York, USA</affiliation><affiliation>Department of Neurology, Albert Einstein College of Medicine, Bronx, New York, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Rachel</namePart><namePart type="family">Saunders‐Pullman</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Beth Israel Medical Center, New York, New York, USA</affiliation><affiliation>Department of Genetics, Mount Sinai School of Medicine, New York, New York, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre authority="originalCategForm">article</genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2011-04</dateIssued><dateCaptured encoding="w3cdtf">2010-08-11</dateCaptured><dateValid encoding="w3cdtf">2010-12-28</dateValid><copyrightDate encoding="w3cdtf">2011</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="figures">1</extent><extent unit="tables">1</extent><extent unit="references">22</extent><extent unit="words">3295</extent></physicalDescription><abstract lang="en">Background:: Transcranial sonography (TCS) area of hyperechogenicity in the substantia nigra (aSN) is increased in idiopathic and genetic Parkinson's disease (PD). Methods:: We performed TCS in 34 LRRK2 G2019S mutation carriers manifesting PD, 24 non‐manifesting mutation carriers, and 28 idiopathic PD patients and compared them with 40 healthy controls (total, n = 126). Results:: Compared with the controls (mean 0.15 cm2), the aSN values in all other groups were increased. The mean aSN was 0.23 cm2 in nonmanifesting mutation carriers (P = .015), 0.34 cm2 in idiopathic PD patients (P < .0001), 0.32 cm2 in LRRK2‐associated PD patients (P < .0001), and 0.33 cm2 in the overall PD group (P < .0001). LRRK2‐associated PD patients had a higher aSN than did nonmanifesting carriers (P = .011), but there was no significant difference in aSN between patients with idiopathic and LRRK2‐associated PD (P = .439). Conclusions:: Our results suggest that SN pathoanatomical alterations may not be substantially different between idiopathic and LRRK2‐associated PD. The findings in the nonmanifesting mutation carriers suggest the presence of intermediate nigrostriatal pathology consistent with the age‐dependent reduced penetrance of this mutation. © 2011 Movement Disorder Society</abstract><note type="content">*Norbert Brüggemann and Johann Hagenah contributed equally to this article.</note><note type="content">*Relevant conflicts of interest/financial disclosures: Nothing to report.</note><note type="funding">Michael J. Fox Foundation, the National Institute of Neurological Disorders and Stroke - No. K23NS047256; </note><note type="funding">Thomas Hartman Foundation for Parkinson's Research, the Volkswagen Foundation, and the Hermann and Lilly Schilling Foundation</note><subject lang="en"><genre>Keywords</genre><topic>Transcranial sonography (TCS)</topic><topic>Parkinson's disease</topic><topic>LRRK2</topic><topic>Substantia nigra</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title></titleInfo><titleInfo type="abbreviated"><title>Mov. Disord.</title></titleInfo><subject><genre>article category</genre><topic>Brief Report</topic></subject><identifier type="ISSN">0885-3185</identifier><identifier type="eISSN">1531-8257</identifier><identifier type="DOI">10.1002/(ISSN)1531-8257</identifier><identifier type="PublisherID">MDS</identifier><part><date>2011</date><detail type="volume"><caption>vol.</caption><number>26</number></detail><detail type="issue"><caption>no.</caption><number>5</number></detail><extent unit="pages"><start>885</start><end>888</end><total>4</total></extent></part></relatedItem><identifier type="istex">33AAF2B1EE8DE03884266ECF62DC2DD248BE8034</identifier><identifier type="DOI">10.1002/mds.23644</identifier><identifier type="ArticleID">MDS23644</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2011 Movement Disorder Society</accessCondition><recordInfo><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin><recordContentSource>WILEY</recordContentSource></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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