Cerebrotendinous xanthomatosis patients with and without parkinsonism: Clinical characteristics and neuroimaging findings
Identifieur interne : 001212 ( Istex/Corpus ); précédent : 001211; suivant : 001213Cerebrotendinous xanthomatosis patients with and without parkinsonism: Clinical characteristics and neuroimaging findings
Auteurs : Chen-San Su ; Wen-Neng Chang ; Shu-Hua Huang ; Chun-Chung Lui ; Tai-Long Pan ; Chen-Hsien Lu ; Yao-Chung Chuang ; Chi-Ren Huang ; Nei-Wen Tsai ; Mei-Jen Hsieh ; Chiung-Chih ChangSource :
- Movement Disorders [ 0885-3185 ] ; 2010-03-15.
English descriptors
Abstract
Parkinsonism in cerebrotendinous xanthomatosis (CTX) is rare. There are no published studies with imaging findings of dopamine transporter using 99mTc‐[2‐[[2‐[[[3‐(4‐chlorophenyl)‐8‐methyl‐8‐azabicyclo [3,2,1] oct‐2‐yl] methyl] (2‐mercaptoethyl) amino] ethyl] amino]‐ethanethiolato(3‐)‐N2,N2,S2,S2]oxo‐[1R‐(exo‐exo)] (99mTc‐TRODAT‐1) SPECT in CTX patients. This report is on the clinical details of five genetically‐proven CTX patients (two with and three without parkinsonism). Imaging findings using cranial magnetic resonance (MR) imaging and 99mTc‐TRODAT‐1 SPECT are also shown. Clinical correlation of neuroimaging findings and clinical presentations was made. A literature review of the clinical and neuroimaging features of eight CTX patients with parkinsonism reported in the English literature is also presented. The parkinsonian features of our two cases and the other eight reported cases occurred before the age of 50 years. The MR imaging study showed variable findings, in which, besides the common diffuse cerebral and cerebellar white matter lesions shown in CTX, several focal brain lesions were also noted. Of the focal lesions, substantia nigra abnormalities were seen only in the two cases with parkinsonism. The 99mTc‐TRODAT‐1 SPECT study showed different degrees of unilateral or bilateral abnormalities in the striatal binding in both visual and semiquantitative assessments. parkinsonism can be one of the neurologic presentations of CTX. Even though abnormal findings of the substantia nigra were detected in both of our CTX patients with parkinsonism, basal ganglion lesions have not been uniformly described in MR imaging findings of reported CTX patients with parkinsonism. 99mTc‐TRODAT‐1 SPECT study can be of value in the detection of striatal involvement, and the study results also suggest pre‐synaptic dopamine neuron involvement in CTX patients with parkinsonism. © 2010 Movement Disorder Society
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DOI: 10.1002/mds.22979
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last="Huang">Shu-Hua Huang</name><affiliation><mods:affiliation>Department of Nuclear Medicine, Chang Gung Memorial Hospital—Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung, Taiwan</mods:affiliation></affiliation></author><author><name sortKey="Lui, Chun Hung" sort="Lui, Chun Hung" uniqKey="Lui C" first="Chun-Chung" last="Lui">Chun-Chung Lui</name><affiliation><mods:affiliation>Department of Neuroradiology, Chang Gung Memorial Hospital—Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung, Taiwan</mods:affiliation></affiliation></author><author><name sortKey="Pan, Tai Ong" sort="Pan, Tai Ong" uniqKey="Pan T" first="Tai-Long" last="Pan">Tai-Long Pan</name><affiliation><mods:affiliation>School of Traditional Chinese Medicine, Chang Gung University, Tao‐Yung, Taiwan</mods:affiliation></affiliation></author><author><name sortKey="Lu, Chen Sien" sort="Lu, Chen Sien" uniqKey="Lu C" first="Chen-Hsien" last="Lu">Chen-Hsien Lu</name><affiliation><mods:affiliation>Department of Neurology, Chang Gung Memorial Hospital—Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung, Taiwan</mods:affiliation></affiliation></author><author><name sortKey="Chuang, Yao Hung" sort="Chuang, Yao Hung" uniqKey="Chuang Y" first="Yao-Chung" last="Chuang">Yao-Chung Chuang</name><affiliation><mods:affiliation>Department of Neurology, Chang Gung Memorial Hospital—Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung, Taiwan</mods:affiliation></affiliation></author><author><name sortKey="Huang, Chi En" sort="Huang, Chi En" uniqKey="Huang C" first="Chi-Ren" last="Huang">Chi-Ren Huang</name><affiliation><mods:affiliation>Department of Neurology, Chang Gung Memorial Hospital—Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung, Taiwan</mods:affiliation></affiliation></author><author><name sortKey="Tsai, Nei En" sort="Tsai, Nei En" uniqKey="Tsai N" 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last="Chang">Wen-Neng Chang</name><affiliation><mods:affiliation>Department of Neurology, Chang Gung Memorial Hospital—Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung, Taiwan</mods:affiliation></affiliation></author><author><name sortKey="Huang, Shu Ua" sort="Huang, Shu Ua" uniqKey="Huang S" first="Shu-Hua" last="Huang">Shu-Hua Huang</name><affiliation><mods:affiliation>Department of Nuclear Medicine, Chang Gung Memorial Hospital—Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung, Taiwan</mods:affiliation></affiliation></author><author><name sortKey="Lui, Chun Hung" sort="Lui, Chun Hung" uniqKey="Lui C" first="Chun-Chung" last="Lui">Chun-Chung Lui</name><affiliation><mods:affiliation>Department of Neuroradiology, Chang Gung Memorial Hospital—Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung, Taiwan</mods:affiliation></affiliation></author><author><name sortKey="Pan, Tai Ong" sort="Pan, Tai Ong" uniqKey="Pan T" first="Tai-Long" last="Pan">Tai-Long Pan</name><affiliation><mods:affiliation>School of Traditional Chinese Medicine, Chang Gung University, Tao‐Yung, Taiwan</mods:affiliation></affiliation></author><author><name sortKey="Lu, Chen Sien" sort="Lu, Chen Sien" uniqKey="Lu C" first="Chen-Hsien" last="Lu">Chen-Hsien Lu</name><affiliation><mods:affiliation>Department of Neurology, Chang Gung Memorial Hospital—Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung, Taiwan</mods:affiliation></affiliation></author><author><name sortKey="Chuang, Yao Hung" sort="Chuang, Yao Hung" uniqKey="Chuang Y" first="Yao-Chung" last="Chuang">Yao-Chung Chuang</name><affiliation><mods:affiliation>Department of Neurology, Chang Gung Memorial Hospital—Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung, Taiwan</mods:affiliation></affiliation></author><author><name sortKey="Huang, Chi En" sort="Huang, Chi En" uniqKey="Huang C" first="Chi-Ren" last="Huang">Chi-Ren Huang</name><affiliation><mods:affiliation>Department of Neurology, Chang Gung Memorial Hospital—Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung, Taiwan</mods:affiliation></affiliation></author><author><name sortKey="Tsai, Nei En" sort="Tsai, Nei En" uniqKey="Tsai N" first="Nei-Wen" last="Tsai">Nei-Wen Tsai</name><affiliation><mods:affiliation>Department of Neurology, Chang Gung Memorial Hospital—Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung, Taiwan</mods:affiliation></affiliation></author><author><name sortKey="Hsieh, Mei En" sort="Hsieh, Mei En" uniqKey="Hsieh M" first="Mei-Jen" last="Hsieh">Mei-Jen Hsieh</name><affiliation><mods:affiliation>Department of Neurology, Chang Gung Memorial Hospital—Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung, Taiwan</mods:affiliation></affiliation></author><author><name sortKey="Chang, Chiung Hih" sort="Chang, Chiung Hih" uniqKey="Chang C" first="Chiung-Chih" last="Chang">Chiung-Chih Chang</name><affiliation><mods:affiliation>Department of Neurology, Chang Gung Memorial Hospital—Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung, Taiwan</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="2010-03-15">2010-03-15</date><biblScope unit="vol">25</biblScope><biblScope unit="issue">4</biblScope><biblScope unit="page" from="452">452</biblScope><biblScope unit="page" to="458">458</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">F59C14E59583A8A5F2F8F5CFD1826BD6E5C6C56B</idno><idno type="DOI">10.1002/mds.22979</idno><idno type="ArticleID">MDS22979</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>99mTc‐TRODAT‐1 SPECT</term><term>MR imaging</term><term>cerebrotendinous xanthomatosis</term><term>parkinsonism</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Parkinsonism in cerebrotendinous xanthomatosis (CTX) is rare. There are no published studies with imaging findings of dopamine transporter using 99mTc‐[2‐[[2‐[[[3‐(4‐chlorophenyl)‐8‐methyl‐8‐azabicyclo [3,2,1] oct‐2‐yl] methyl] (2‐mercaptoethyl) amino] ethyl] amino]‐ethanethiolato(3‐)‐N2,N2,S2,S2]oxo‐[1R‐(exo‐exo)] (99mTc‐TRODAT‐1) SPECT in CTX patients. This report is on the clinical details of five genetically‐proven CTX patients (two with and three without parkinsonism). Imaging findings using cranial magnetic resonance (MR) imaging and 99mTc‐TRODAT‐1 SPECT are also shown. Clinical correlation of neuroimaging findings and clinical presentations was made. A literature review of the clinical and neuroimaging features of eight CTX patients with parkinsonism reported in the English literature is also presented. The parkinsonian features of our two cases and the other eight reported cases occurred before the age of 50 years. The MR imaging study showed variable findings, in which, besides the common diffuse cerebral and cerebellar white matter lesions shown in CTX, several focal brain lesions were also noted. Of the focal lesions, substantia nigra abnormalities were seen only in the two cases with parkinsonism. The 99mTc‐TRODAT‐1 SPECT study showed different degrees of unilateral or bilateral abnormalities in the striatal binding in both visual and semiquantitative assessments. parkinsonism can be one of the neurologic presentations of CTX. Even though abnormal findings of the substantia nigra were detected in both of our CTX patients with parkinsonism, basal ganglion lesions have not been uniformly described in MR imaging findings of reported CTX patients with parkinsonism. 99mTc‐TRODAT‐1 SPECT study can be of value in the detection of striatal involvement, and the study results also suggest pre‐synaptic dopamine neuron involvement in CTX patients with parkinsonism. © 2010 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Chen‐San Su MD</name><affiliations><json:string>Department of Neurology, Chang Gung Memorial Hospital—Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung, Taiwan</json:string></affiliations></json:item><json:item><name>Wen‐Neng Chang MD</name><affiliations><json:string>Department of Neurology, Chang Gung Memorial Hospital—Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung, Taiwan</json:string></affiliations></json:item><json:item><name>Shu‐Hua Huang MD</name><affiliations><json:string>Department of Nuclear Medicine, Chang Gung Memorial Hospital—Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung, Taiwan</json:string></affiliations></json:item><json:item><name>Chun‐Chung Lui MD</name><affiliations><json:string>Department of Neuroradiology, Chang Gung Memorial Hospital—Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung, Taiwan</json:string></affiliations></json:item><json:item><name>Tai‐Long Pan MD, PhD</name><affiliations><json:string>School of Traditional Chinese Medicine, Chang Gung University, Tao‐Yung, Taiwan</json:string></affiliations></json:item><json:item><name>Chen‐Hsien Lu MD</name><affiliations><json:string>Department of Neurology, Chang Gung Memorial Hospital—Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung, Taiwan</json:string></affiliations></json:item><json:item><name>Yao‐Chung Chuang MD, PhD</name><affiliations><json:string>Department of Neurology, Chang Gung Memorial Hospital—Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung, Taiwan</json:string></affiliations></json:item><json:item><name>Chi‐Ren Huang MD</name><affiliations><json:string>Department of Neurology, Chang Gung Memorial Hospital—Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung, Taiwan</json:string></affiliations></json:item><json:item><name>Nei‐Wen Tsai MD, PhD</name><affiliations><json:string>Department of Neurology, Chang Gung Memorial Hospital—Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung, Taiwan</json:string></affiliations></json:item><json:item><name>Mei‐Jen Hsieh MD</name><affiliations><json:string>Department of Neurology, Chang Gung Memorial Hospital—Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung, Taiwan</json:string></affiliations></json:item><json:item><name>Chiung‐Chih Chang MD</name><affiliations><json:string>Department of Neurology, Chang Gung Memorial Hospital—Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung, Taiwan</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>cerebrotendinous xanthomatosis</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>parkinsonism</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>MR imaging</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>99mTc‐TRODAT‐1 SPECT</value></json:item></subject><language><json:string>eng</json:string></language><abstract>Parkinsonism in cerebrotendinous xanthomatosis (CTX) is rare. There are no published studies with imaging findings of dopamine transporter using 99mTc‐[2‐[[2‐[[[3‐(4‐chlorophenyl)‐8‐methyl‐8‐azabicyclo [3,2,1] oct‐2‐yl] methyl] (2‐mercaptoethyl) amino] ethyl] amino]‐ethanethiolato(3‐)‐N2,N2,S2,S2]oxo‐[1R‐(exo‐exo)] (99mTc‐TRODAT‐1) SPECT in CTX patients. This report is on the clinical details of five genetically‐proven CTX patients (two with and three without parkinsonism). Imaging findings using cranial magnetic resonance (MR) imaging and 99mTc‐TRODAT‐1 SPECT are also shown. Clinical correlation of neuroimaging findings and clinical presentations was made. A literature review of the clinical and neuroimaging features of eight CTX patients with parkinsonism reported in the English literature is also presented. The parkinsonian features of our two cases and the other eight reported cases occurred before the age of 50 years. The MR imaging study showed variable findings, in which, besides the common diffuse cerebral and cerebellar white matter lesions shown in CTX, several focal brain lesions were also noted. Of the focal lesions, substantia nigra abnormalities were seen only in the two cases with parkinsonism. The 99mTc‐TRODAT‐1 SPECT study showed different degrees of unilateral or bilateral abnormalities in the striatal binding in both visual and semiquantitative assessments. parkinsonism can be one of the neurologic presentations of CTX. Even though abnormal findings of the substantia nigra were detected in both of our CTX patients with parkinsonism, basal ganglion lesions have not been uniformly described in MR imaging findings of reported CTX patients with parkinsonism. 99mTc‐TRODAT‐1 SPECT study can be of value in the detection of striatal involvement, and the study results also suggest pre‐synaptic dopamine neuron involvement in CTX patients with parkinsonism. © 2010 Movement Disorder Society</abstract><qualityIndicators><score>6.455</score><pdfVersion>1.3</pdfVersion><pdfPageSize>612 x 810 pts</pdfPageSize><refBibsNative>true</refBibsNative><abstractCharCount>1930</abstractCharCount><pdfWordCount>3455</pdfWordCount><pdfCharCount>24110</pdfCharCount><pdfPageCount>7</pdfPageCount><abstractWordCount>263</abstractWordCount></qualityIndicators><title>Cerebrotendinous xanthomatosis patients with and without parkinsonism: Clinical characteristics and neuroimaging findings</title><genre><json:string>Serial 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findings</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>2010</date></publicationStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Cerebrotendinous xanthomatosis patients with and without parkinsonism: Clinical characteristics and neuroimaging findings</title><author><persName><forename type="first">Chen‐San</forename><surname>Su</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Neurology, Chang Gung Memorial Hospital—Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung, Taiwan</affiliation></author><author><persName><forename type="first">Wen‐Neng</forename><surname>Chang</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Neurology, Chang Gung Memorial Hospital—Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung, Taiwan</affiliation></author><author><persName><forename type="first">Shu‐Hua</forename><surname>Huang</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Nuclear Medicine, Chang Gung Memorial Hospital—Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung, Taiwan</affiliation></author><author><persName><forename type="first">Chun‐Chung</forename><surname>Lui</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Neuroradiology, Chang Gung Memorial Hospital—Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung, Taiwan</affiliation></author><author><persName><forename type="first">Tai‐Long</forename><surname>Pan</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>School of Traditional Chinese Medicine, Chang Gung University, Tao‐Yung, Taiwan</affiliation></author><author><persName><forename type="first">Chen‐Hsien</forename><surname>Lu</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Neurology, Chang Gung Memorial Hospital—Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung, Taiwan</affiliation></author><author><persName><forename type="first">Yao‐Chung</forename><surname>Chuang</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>Department of Neurology, Chang Gung Memorial Hospital—Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung, Taiwan</affiliation></author><author><persName><forename type="first">Chi‐Ren</forename><surname>Huang</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Neurology, Chang Gung Memorial Hospital—Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung, Taiwan</affiliation></author><author><persName><forename type="first">Nei‐Wen</forename><surname>Tsai</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>Department of Neurology, Chang Gung Memorial Hospital—Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung, Taiwan</affiliation></author><author><persName><forename type="first">Mei‐Jen</forename><surname>Hsieh</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Neurology, Chang Gung Memorial Hospital—Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung, Taiwan</affiliation></author><author><persName><forename type="first">Chiung‐Chih</forename><surname>Chang</surname><roleName type="degree">MD</roleName></persName><note type="correspondence"><p>Correspondence: Department of Neurology, Chang Gung Memorial Hospital, 123, Ta‐Pei RD., Niao‐Sung Hsiang, Kaohsiung Hsien, Taiwan</p></note><affiliation>Department of Neurology, Chang Gung Memorial Hospital—Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung, Taiwan</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="2010-03-15"></date><biblScope unit="vol">25</biblScope><biblScope unit="issue">4</biblScope><biblScope unit="page" from="452">452</biblScope><biblScope unit="page" to="458">458</biblScope></imprint></monogr><idno type="istex">F59C14E59583A8A5F2F8F5CFD1826BD6E5C6C56B</idno><idno type="DOI">10.1002/mds.22979</idno><idno type="ArticleID">MDS22979</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2010</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>Parkinsonism in cerebrotendinous xanthomatosis (CTX) is rare. There are no published studies with imaging findings of dopamine transporter using 99mTc‐[2‐[[2‐[[[3‐(4‐chlorophenyl)‐8‐methyl‐8‐azabicyclo [3,2,1] oct‐2‐yl] methyl] (2‐mercaptoethyl) amino] ethyl] amino]‐ethanethiolato(3‐)‐N2,N2,S2,S2]oxo‐[1R‐(exo‐exo)] (99mTc‐TRODAT‐1) SPECT in CTX patients. This report is on the clinical details of five genetically‐proven CTX patients (two with and three without parkinsonism). Imaging findings using cranial magnetic resonance (MR) imaging and 99mTc‐TRODAT‐1 SPECT are also shown. Clinical correlation of neuroimaging findings and clinical presentations was made. A literature review of the clinical and neuroimaging features of eight CTX patients with parkinsonism reported in the English literature is also presented. The parkinsonian features of our two cases and the other eight reported cases occurred before the age of 50 years. The MR imaging study showed variable findings, in which, besides the common diffuse cerebral and cerebellar white matter lesions shown in CTX, several focal brain lesions were also noted. Of the focal lesions, substantia nigra abnormalities were seen only in the two cases with parkinsonism. The 99mTc‐TRODAT‐1 SPECT study showed different degrees of unilateral or bilateral abnormalities in the striatal binding in both visual and semiquantitative assessments. parkinsonism can be one of the neurologic presentations of CTX. Even though abnormal findings of the substantia nigra were detected in both of our CTX patients with parkinsonism, basal ganglion lesions have not been uniformly described in MR imaging findings of reported CTX patients with parkinsonism. 99mTc‐TRODAT‐1 SPECT study can be of value in the detection of striatal involvement, and the study results also suggest pre‐synaptic dopamine neuron involvement in CTX patients with parkinsonism. © 2010 Movement Disorder Society</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>cerebrotendinous xanthomatosis</term></item><item><term>parkinsonism</term></item><item><term>MR imaging</term></item><item><term>99mTc‐TRODAT‐1 SPECT</term></item></list></keywords></textClass><textClass><keywords scheme="Journal Subject"><list><head>Article category</head><item><term>Research Article</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2009-08-21">Received</change><change when="2009-11-26">Registration</change><change when="2010-03-15">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/F59C14E59583A8A5F2F8F5CFD1826BD6E5C6C56B/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="40"><doi origin="wiley" registered="yes">10.1002/mds.v25:4</doi><numberingGroup><numbering type="journalVolume" number="25">25</numbering><numbering type="journalIssue">4</numbering></numberingGroup><coverDate startDate="2010-03-15">15 March 2010</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="90" status="forIssue"><doi origin="wiley" registered="yes">10.1002/mds.22979</doi><idGroup><id type="unit" value="MDS22979"></id></idGroup><countGroup><count type="pageTotal" number="7"></count></countGroup><titleGroup><title type="articleCategory">Research Article</title><title type="tocHeading1">Research Articles</title></titleGroup><copyright ownership="thirdParty">Copyright © 2010 Movement Disorder Society</copyright><eventGroup><event type="manuscriptReceived" date="2009-08-21"></event><event type="manuscriptRevised" date="2009-11-23"></event><event type="manuscriptAccepted" date="2009-11-26"></event><event type="firstOnline" date="2010-01-27"></event><event type="publishedOnlineFinalForm" date="2010-03-16"></event><event type="publishedOnlineAcceptedOrEarlyUnpaginated" date="2010-01-27"></event><event type="xmlConverted" agent="Converter:JWSART34_TO_WML3G version:2.5.2 mode:FullText" date="2011-08-12"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:3.8.8" date="2014-02-02"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.1.7 mode:FullText,remove_FC" date="2014-10-31"></event></eventGroup><numberingGroup><numbering type="pageFirst">452</numbering><numbering type="pageLast">458</numbering></numberingGroup><correspondenceTo>Department of Neurology, Chang Gung Memorial Hospital, 123, Ta‐Pei RD., Niao‐Sung Hsiang, Kaohsiung Hsien, Taiwan</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:MDS.MDS22979.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="2"></count><count type="tableTotal" number="3"></count><count type="referenceTotal" number="30"></count><count type="wordTotal" number="4687"></count></countGroup><titleGroup><title type="main" xml:lang="en">Cerebrotendinous xanthomatosis patients with and without parkinsonism: Clinical characteristics and neuroimaging findings</title><title type="short" xml:lang="en">Neuroimages in CTX With/Without Parkinsonism</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Chen‐San</givenNames><familyName>Su</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Wen‐Neng</givenNames><familyName>Chang</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Shu‐Hua</givenNames><familyName>Huang</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Chun‐Chung</givenNames><familyName>Lui</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Tai‐Long</givenNames><familyName>Pan</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Chen‐Hsien</givenNames><familyName>Lu</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Yao‐Chung</givenNames><familyName>Chuang</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au8" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Chi‐Ren</givenNames><familyName>Huang</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au9" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Nei‐Wen</givenNames><familyName>Tsai</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au10" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Mei‐Jen</givenNames><familyName>Hsieh</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au11" creatorRole="author" affiliationRef="#af1" corresponding="yes"><personName><givenNames>Chiung‐Chih</givenNames><familyName>Chang</familyName><degrees>MD</degrees></personName><contactDetails><email>neur099@adm.cgmh.org.tw</email></contactDetails></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="TW" type="organization"><unparsedAffiliation>Department of Neurology, Chang Gung Memorial Hospital—Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung, Taiwan</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="TW" type="organization"><unparsedAffiliation>Department of Nuclear Medicine, Chang Gung Memorial Hospital—Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung, Taiwan</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="TW" type="organization"><unparsedAffiliation>Department of Neuroradiology, Chang Gung Memorial Hospital—Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung, Taiwan</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="TW" type="organization"><unparsedAffiliation>School of Traditional Chinese Medicine, Chang Gung University, Tao‐Yung, Taiwan</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">cerebrotendinous xanthomatosis</keyword><keyword xml:id="kwd2">parkinsonism</keyword><keyword xml:id="kwd3">MR imaging</keyword><keyword xml:id="kwd4"><sup>99</sup>mTc‐TRODAT‐1 SPECT</keyword></keywordGroup><supportingInformation><p> Additional Supporting Information may be found in the online version of this article. </p><supportingInfoItem><mediaResource alt="supporting information" href="urn-x:wiley:08853185:media:mds22979:22979"></mediaResource><caption>Video</caption></supportingInfoItem></supportingInformation><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>Parkinsonism in cerebrotendinous xanthomatosis (CTX) is rare. There are no published studies with imaging findings of dopamine transporter using <sup>99m</sup>Tc‐[2‐[[2‐[[[3‐(4‐chlorophenyl)‐8‐methyl‐8‐azabicyclo [3,2,1] oct‐2‐yl] methyl] (2‐mercaptoethyl) amino] ethyl] amino]‐ethanethiolato(3‐)‐<i>N2,N2,S2,S2</i>]oxo‐[1<i>R</i>‐(<i>exo‐exo</i>)] (<sup>99m</sup>Tc‐TRODAT‐1) SPECT in CTX patients. This report is on the clinical details of five genetically‐proven CTX patients (two with and three without parkinsonism). Imaging findings using cranial magnetic resonance (MR) imaging and <sup>99m</sup>Tc‐TRODAT‐1 SPECT are also shown. Clinical correlation of neuroimaging findings and clinical presentations was made. A literature review of the clinical and neuroimaging features of eight CTX patients with parkinsonism reported in the English literature is also presented. The parkinsonian features of our two cases and the other eight reported cases occurred before the age of 50 years. The MR imaging study showed variable findings, in which, besides the common diffuse cerebral and cerebellar white matter lesions shown in CTX, several focal brain lesions were also noted. Of the focal lesions, substantia nigra abnormalities were seen only in the two cases with parkinsonism. The <sup>99m</sup>Tc‐TRODAT‐1 SPECT study showed different degrees of unilateral or bilateral abnormalities in the striatal binding in both visual and semiquantitative assessments. parkinsonism can be one of the neurologic presentations of CTX. Even though abnormal findings of the substantia nigra were detected in both of our CTX patients with parkinsonism, basal ganglion lesions have not been uniformly described in MR imaging findings of reported CTX patients with parkinsonism. <sup>99m</sup>Tc‐TRODAT‐1 SPECT study can be of value in the detection of striatal involvement, and the study results also suggest pre‐synaptic dopamine neuron involvement in CTX patients with parkinsonism. © 2010 Movement Disorder Society</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><!--Version 0.6 générée le 3-12-2015--><mods version="3.6"><titleInfo lang="en"><title>Cerebrotendinous xanthomatosis patients with and without parkinsonism: Clinical characteristics and neuroimaging findings</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Neuroimages in CTX With/Without Parkinsonism</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Cerebrotendinous xanthomatosis patients with and without parkinsonism: Clinical characteristics and neuroimaging findings</title></titleInfo><name type="personal"><namePart type="given">Chen‐San</namePart><namePart type="family">Su</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Chang Gung Memorial Hospital—Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung, Taiwan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Wen‐Neng</namePart><namePart type="family">Chang</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Chang Gung Memorial Hospital—Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung, Taiwan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Shu‐Hua</namePart><namePart type="family">Huang</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Nuclear Medicine, Chang Gung Memorial Hospital—Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung, Taiwan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Chun‐Chung</namePart><namePart type="family">Lui</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neuroradiology, Chang Gung Memorial Hospital—Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung, Taiwan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Tai‐Long</namePart><namePart type="family">Pan</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>School of Traditional Chinese Medicine, Chang Gung University, Tao‐Yung, Taiwan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Chen‐Hsien</namePart><namePart type="family">Lu</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Chang Gung Memorial Hospital—Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung, Taiwan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Yao‐Chung</namePart><namePart type="family">Chuang</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Neurology, Chang Gung Memorial Hospital—Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung, Taiwan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Chi‐Ren</namePart><namePart type="family">Huang</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Chang Gung Memorial Hospital—Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung, Taiwan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Nei‐Wen</namePart><namePart type="family">Tsai</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Neurology, Chang Gung Memorial Hospital—Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung, Taiwan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Mei‐Jen</namePart><namePart type="family">Hsieh</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Chang Gung Memorial Hospital—Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung, Taiwan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Chiung‐Chih</namePart><namePart type="family">Chang</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Chang Gung Memorial Hospital—Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung, Taiwan</affiliation><description>Correspondence: Department of Neurology, Chang Gung Memorial Hospital, 123, Ta‐Pei RD., Niao‐Sung Hsiang, Kaohsiung Hsien, Taiwan</description><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">2010-03-15</dateIssued><dateCaptured encoding="w3cdtf">2009-08-21</dateCaptured><dateValid encoding="w3cdtf">2009-11-26</dateValid><copyrightDate encoding="w3cdtf">2010</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">2</extent><extent unit="tables">3</extent><extent unit="references">30</extent><extent unit="words">4687</extent></physicalDescription><abstract lang="en">Parkinsonism in cerebrotendinous xanthomatosis (CTX) is rare. There are no published studies with imaging findings of dopamine transporter using 99mTc‐[2‐[[2‐[[[3‐(4‐chlorophenyl)‐8‐methyl‐8‐azabicyclo [3,2,1] oct‐2‐yl] methyl] (2‐mercaptoethyl) amino] ethyl] amino]‐ethanethiolato(3‐)‐N2,N2,S2,S2]oxo‐[1R‐(exo‐exo)] (99mTc‐TRODAT‐1) SPECT in CTX patients. This report is on the clinical details of five genetically‐proven CTX patients (two with and three without parkinsonism). Imaging findings using cranial magnetic resonance (MR) imaging and 99mTc‐TRODAT‐1 SPECT are also shown. Clinical correlation of neuroimaging findings and clinical presentations was made. A literature review of the clinical and neuroimaging features of eight CTX patients with parkinsonism reported in the English literature is also presented. The parkinsonian features of our two cases and the other eight reported cases occurred before the age of 50 years. The MR imaging study showed variable findings, in which, besides the common diffuse cerebral and cerebellar white matter lesions shown in CTX, several focal brain lesions were also noted. Of the focal lesions, substantia nigra abnormalities were seen only in the two cases with parkinsonism. The 99mTc‐TRODAT‐1 SPECT study showed different degrees of unilateral or bilateral abnormalities in the striatal binding in both visual and semiquantitative assessments. parkinsonism can be one of the neurologic presentations of CTX. Even though abnormal findings of the substantia nigra were detected in both of our CTX patients with parkinsonism, basal ganglion lesions have not been uniformly described in MR imaging findings of reported CTX patients with parkinsonism. 99mTc‐TRODAT‐1 SPECT study can be of value in the detection of striatal involvement, and the study results also suggest pre‐synaptic dopamine neuron involvement in CTX patients with parkinsonism. © 2010 Movement Disorder Society</abstract><subject lang="en"><genre>Keywords</genre><topic>cerebrotendinous xanthomatosis</topic><topic>parkinsonism</topic><topic>MR imaging</topic><topic>99mTc‐TRODAT‐1 SPECT</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title></titleInfo><titleInfo type="abbreviated"><title>Mov. Disord.</title></titleInfo><note type="content"> Additional Supporting Information may be found in the online version of this article.Supporting Info Item: Video - </note><subject><genre>article category</genre><topic>Research Article</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>2010</date><detail type="volume"><caption>vol.</caption><number>25</number></detail><detail type="issue"><caption>no.</caption><number>4</number></detail><extent unit="pages"><start>452</start><end>458</end><total>7</total></extent></part></relatedItem><identifier type="istex">F59C14E59583A8A5F2F8F5CFD1826BD6E5C6C56B</identifier><identifier type="DOI">10.1002/mds.22979</identifier><identifier type="ArticleID">MDS22979</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2010 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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