Cerebrotendinous xanthomatosis patients with and without parkinsonism: Clinical characteristics and neuroimaging findings
Identifieur interne : 001E08 ( Main/Exploration ); précédent : 001E07; suivant : 001E09Cerebrotendinous xanthomatosis patients with and without parkinsonism: Clinical characteristics and neuroimaging findings
Auteurs : Chen-San Su [Taïwan] ; Wen-Neng Chang [Taïwan] ; Shu-Hua Huang [Taïwan] ; Chun-Chung Lui [Taïwan] ; Tai-Long Pan [Taïwan] ; Chen-Hsien Lu [Taïwan] ; Yao-Chung Chuang [Taïwan] ; Chi-Ren Huang [Taïwan] ; Nei-Wen Tsai [Taïwan] ; Mei-Jen Hsieh [Taïwan] ; Chiung-Chih Chang [Taïwan]Source :
- Movement Disorders [ 0885-3185 ] ; 2010-03-15.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Homme.
English descriptors
- KwdEn :
- 99mTc‐TRODAT‐1 SPECT, Adult, Brain (blood supply), Brain (pathology), Cerebrotendinous xanthomatosis, Cholestanetriol 26-Monooxygenase (genetics), Chromosomes, Human, Pair 2 (genetics), DNA Mutational Analysis, Female, Human, Humans, MR imaging, Magnetic Resonance Imaging, Male, Middle Aged, Nervous system diseases, Nuclear magnetic resonance imaging, Organotechnetium Compounds (diagnostic use), Parkinsonian Disorders (diagnosis), Parkinsonian Disorders (epidemiology), Parkinsonism, Photon, Point Mutation (genetics), Radiopharmaceuticals (diagnostic use), Severity of Illness Index, Single photon emission tomography, Technetium 99mTc, Tomography, Emission-Computed, Single-Photon, Tropanes (diagnostic use), Xanthomatosis, Cerebrotendinous (diagnosis), Xanthomatosis, Cerebrotendinous (epidemiology), cerebrotendinous xanthomatosis, parkinsonism.
- MESH :
- chemical , diagnostic use : Organotechnetium Compounds, Radiopharmaceuticals, Tropanes.
- chemical , genetics : Cholestanetriol 26-Monooxygenase.
- blood supply : Brain.
- diagnosis : Parkinsonian Disorders, Xanthomatosis, Cerebrotendinous.
- epidemiology : Parkinsonian Disorders, Xanthomatosis, Cerebrotendinous.
- genetics : Chromosomes, Human, Pair 2, Point Mutation.
- pathology : Brain.
- Adult, DNA Mutational Analysis, Female, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Severity of Illness Index, Tomography, Emission-Computed, Single-Photon.
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
Url:
DOI: 10.1002/mds.22979
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: 001212
- to stream Istex, to step Curation: 001212
- to stream Istex, to step Checkpoint: 000A87
- to stream PubMed, to step Corpus: 001993
- to stream PubMed, to step Curation: 001993
- to stream PubMed, to step Checkpoint: 001998
- to stream Ncbi, to step Merge: 002A09
- to stream Ncbi, to step Curation: 002A09
- to stream Ncbi, to step Checkpoint: 002A09
- to stream Main, to step Merge: 002244
- to stream PascalFrancis, to step Corpus: 000C11
- to stream PascalFrancis, to step Curation: 002108
- to stream PascalFrancis, to step Checkpoint: 000B68
- to stream Main, to step Merge: 002755
- to stream Main, to step Curation: 001E08
Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Cerebrotendinous xanthomatosis patients with and without parkinsonism: Clinical characteristics and neuroimaging findings</title><author><name sortKey="Su, Chen An" sort="Su, Chen An" uniqKey="Su C" first="Chen-San" last="Su">Chen-San Su</name></author><author><name sortKey="Chang, Wen Eng" sort="Chang, Wen Eng" uniqKey="Chang W" first="Wen-Neng" last="Chang">Wen-Neng Chang</name></author><author><name sortKey="Huang, Shu Ua" sort="Huang, Shu Ua" uniqKey="Huang S" first="Shu-Hua" last="Huang">Shu-Hua Huang</name></author><author><name sortKey="Lui, Chun Hung" sort="Lui, Chun Hung" uniqKey="Lui C" first="Chun-Chung" last="Lui">Chun-Chung Lui</name></author><author><name sortKey="Pan, Tai Ong" sort="Pan, Tai Ong" uniqKey="Pan T" first="Tai-Long" last="Pan">Tai-Long Pan</name></author><author><name sortKey="Lu, Chen Sien" sort="Lu, Chen Sien" uniqKey="Lu C" first="Chen-Hsien" last="Lu">Chen-Hsien Lu</name></author><author><name sortKey="Chuang, Yao Hung" sort="Chuang, Yao Hung" uniqKey="Chuang Y" first="Yao-Chung" last="Chuang">Yao-Chung Chuang</name></author><author><name sortKey="Huang, Chi En" sort="Huang, Chi En" uniqKey="Huang C" first="Chi-Ren" last="Huang">Chi-Ren Huang</name></author><author><name sortKey="Tsai, Nei En" sort="Tsai, Nei En" uniqKey="Tsai N" first="Nei-Wen" last="Tsai">Nei-Wen Tsai</name></author><author><name sortKey="Hsieh, Mei En" sort="Hsieh, Mei En" uniqKey="Hsieh M" first="Mei-Jen" last="Hsieh">Mei-Jen Hsieh</name></author><author><name sortKey="Chang, Chiung Hih" sort="Chang, Chiung Hih" uniqKey="Chang C" first="Chiung-Chih" last="Chang">Chiung-Chih Chang</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:F59C14E59583A8A5F2F8F5CFD1826BD6E5C6C56B</idno><date when="2010" year="2010">2010</date><idno type="doi">10.1002/mds.22979</idno><idno type="url">https://api.istex.fr/document/F59C14E59583A8A5F2F8F5CFD1826BD6E5C6C56B/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">001212</idno><idno type="wicri:Area/Istex/Curation">001212</idno><idno type="wicri:Area/Istex/Checkpoint">000A87</idno><idno type="wicri:doubleKey">0885-3185:2010:Su C:cerebrotendinous:xanthomatosis:patients</idno><idno type="wicri:source">PubMed</idno><idno type="RBID">pubmed:20108380</idno><idno type="wicri:Area/PubMed/Corpus">001993</idno><idno type="wicri:Area/PubMed/Curation">001993</idno><idno type="wicri:Area/PubMed/Checkpoint">001998</idno><idno type="wicri:Area/Ncbi/Merge">002A09</idno><idno type="wicri:Area/Ncbi/Curation">002A09</idno><idno type="wicri:Area/Ncbi/Checkpoint">002A09</idno><idno type="wicri:Area/Main/Merge">002244</idno><idno type="wicri:source">INIST</idno><idno type="RBID">Pascal:10-0178218</idno><idno type="wicri:Area/PascalFrancis/Corpus">000C11</idno><idno type="wicri:Area/PascalFrancis/Curation">002108</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">000B68</idno><idno type="wicri:doubleKey">0885-3185:2010:Su C:cerebrotendinous:xanthomatosis:patients</idno><idno type="wicri:Area/Main/Merge">002755</idno><idno type="wicri:Area/Main/Curation">001E08</idno><idno type="wicri:Area/Main/Exploration">001E08</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Cerebrotendinous xanthomatosis patients with and without parkinsonism: Clinical characteristics and neuroimaging findings</title><author><name sortKey="Su, Chen An" sort="Su, Chen An" uniqKey="Su C" first="Chen-San" last="Su">Chen-San Su</name><affiliation wicri:level="1"><country xml:lang="fr">Taïwan</country><wicri:regionArea>Department of Neurology, Chang Gung Memorial Hospital—Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung</wicri:regionArea><wicri:noRegion>Kaohsiung</wicri:noRegion></affiliation></author><author><name sortKey="Chang, Wen Eng" sort="Chang, Wen Eng" uniqKey="Chang W" first="Wen-Neng" last="Chang">Wen-Neng Chang</name><affiliation wicri:level="1"><country xml:lang="fr">Taïwan</country><wicri:regionArea>Department of Neurology, Chang Gung Memorial Hospital—Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung</wicri:regionArea><wicri:noRegion>Kaohsiung</wicri:noRegion></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 wicri:level="1"><country xml:lang="fr">Taïwan</country><wicri:regionArea>Department of Nuclear Medicine, Chang Gung Memorial Hospital—Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung</wicri:regionArea><wicri:noRegion>Kaohsiung</wicri:noRegion></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 wicri:level="1"><country xml:lang="fr">Taïwan</country><wicri:regionArea>Department of Neuroradiology, Chang Gung Memorial Hospital—Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung</wicri:regionArea><wicri:noRegion>Kaohsiung</wicri:noRegion></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 wicri:level="1"><country xml:lang="fr">Taïwan</country><wicri:regionArea>School of Traditional Chinese Medicine, Chang Gung University, Tao‐Yung</wicri:regionArea><wicri:noRegion>Tao‐Yung</wicri:noRegion></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 wicri:level="1"><country xml:lang="fr">Taïwan</country><wicri:regionArea>Department of Neurology, Chang Gung Memorial Hospital—Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung</wicri:regionArea><wicri:noRegion>Kaohsiung</wicri:noRegion></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 wicri:level="1"><country xml:lang="fr">Taïwan</country><wicri:regionArea>Department of Neurology, Chang Gung Memorial Hospital—Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung</wicri:regionArea><wicri:noRegion>Kaohsiung</wicri:noRegion></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 wicri:level="1"><country xml:lang="fr">Taïwan</country><wicri:regionArea>Department of Neurology, Chang Gung Memorial Hospital—Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung</wicri:regionArea><wicri:noRegion>Kaohsiung</wicri:noRegion></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 wicri:level="1"><country xml:lang="fr">Taïwan</country><wicri:regionArea>Department of Neurology, Chang Gung Memorial Hospital—Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung</wicri:regionArea><wicri:noRegion>Kaohsiung</wicri:noRegion></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 wicri:level="1"><country xml:lang="fr">Taïwan</country><wicri:regionArea>Department of Neurology, Chang Gung Memorial Hospital—Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung</wicri:regionArea><wicri:noRegion>Kaohsiung</wicri:noRegion></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 wicri:level="1"><country xml:lang="fr">Taïwan</country><wicri:regionArea>Department of Neurology, Chang Gung Memorial Hospital—Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung</wicri:regionArea><wicri:noRegion>Kaohsiung</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2010-03-15">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>Adult</term><term>Brain (blood supply)</term><term>Brain (pathology)</term><term>Cerebrotendinous xanthomatosis</term><term>Cholestanetriol 26-Monooxygenase (genetics)</term><term>Chromosomes, Human, Pair 2 (genetics)</term><term>DNA Mutational Analysis</term><term>Female</term><term>Human</term><term>Humans</term><term>MR imaging</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Middle Aged</term><term>Nervous system diseases</term><term>Nuclear magnetic resonance imaging</term><term>Organotechnetium Compounds (diagnostic use)</term><term>Parkinsonian Disorders (diagnosis)</term><term>Parkinsonian Disorders (epidemiology)</term><term>Parkinsonism</term><term>Photon</term><term>Point Mutation (genetics)</term><term>Radiopharmaceuticals (diagnostic use)</term><term>Severity of Illness Index</term><term>Single photon emission tomography</term><term>Technetium 99mTc</term><term>Tomography, Emission-Computed, Single-Photon</term><term>Tropanes (diagnostic use)</term><term>Xanthomatosis, Cerebrotendinous (diagnosis)</term><term>Xanthomatosis, Cerebrotendinous (epidemiology)</term><term>cerebrotendinous xanthomatosis</term><term>parkinsonism</term></keywords><keywords scheme="MESH" type="chemical" qualifier="diagnostic use" xml:lang="en"><term>Organotechnetium Compounds</term><term>Radiopharmaceuticals</term><term>Tropanes</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Cholestanetriol 26-Monooxygenase</term></keywords><keywords scheme="MESH" qualifier="blood supply" xml:lang="en"><term>Brain</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Parkinsonian Disorders</term><term>Xanthomatosis, Cerebrotendinous</term></keywords><keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Parkinsonian Disorders</term><term>Xanthomatosis, Cerebrotendinous</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chromosomes, Human, Pair 2</term><term>Point Mutation</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Brain</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>DNA Mutational Analysis</term><term>Female</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Middle Aged</term><term>Severity of Illness Index</term><term>Tomography, Emission-Computed, Single-Photon</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Homme</term><term>Imagerie RMN</term><term>Parkinsonisme</term><term>Pathologie du système nerveux</term><term>Photon</term><term>Technétium 99mTc</term><term>Tomoscintigraphie émission monophotonique</term><term>Xanthomatose cérébrotendineuse</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</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><affiliations><list><country><li>Taïwan</li></country></list><tree><country name="Taïwan"><noRegion><name sortKey="Su, Chen An" sort="Su, Chen An" uniqKey="Su C" first="Chen-San" last="Su">Chen-San Su</name></noRegion><name sortKey="Chang, Chiung Hih" sort="Chang, Chiung Hih" uniqKey="Chang C" first="Chiung-Chih" last="Chang">Chiung-Chih Chang</name><name sortKey="Chang, Wen Eng" sort="Chang, Wen Eng" uniqKey="Chang W" first="Wen-Neng" last="Chang">Wen-Neng Chang</name><name sortKey="Chuang, Yao Hung" sort="Chuang, Yao Hung" uniqKey="Chuang Y" first="Yao-Chung" last="Chuang">Yao-Chung Chuang</name><name sortKey="Hsieh, Mei En" sort="Hsieh, Mei En" uniqKey="Hsieh M" first="Mei-Jen" last="Hsieh">Mei-Jen Hsieh</name><name sortKey="Huang, Chi En" sort="Huang, Chi En" uniqKey="Huang C" first="Chi-Ren" last="Huang">Chi-Ren Huang</name><name sortKey="Huang, Shu Ua" sort="Huang, Shu Ua" uniqKey="Huang S" first="Shu-Hua" last="Huang">Shu-Hua Huang</name><name sortKey="Lu, Chen Sien" sort="Lu, Chen Sien" uniqKey="Lu C" first="Chen-Hsien" last="Lu">Chen-Hsien Lu</name><name sortKey="Lui, Chun Hung" sort="Lui, Chun Hung" uniqKey="Lui C" first="Chun-Chung" last="Lui">Chun-Chung Lui</name><name sortKey="Pan, Tai Ong" sort="Pan, Tai Ong" uniqKey="Pan T" first="Tai-Long" last="Pan">Tai-Long Pan</name><name sortKey="Tsai, Nei En" sort="Tsai, Nei En" uniqKey="Tsai N" first="Nei-Wen" last="Tsai">Nei-Wen Tsai</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001E08 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 001E08 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= MovDisordV3
|flux= Main
|étape= Exploration
|type= RBID
|clé= ISTEX:F59C14E59583A8A5F2F8F5CFD1826BD6E5C6C56B
|texte= Cerebrotendinous xanthomatosis patients with and without parkinsonism: Clinical characteristics and neuroimaging findings
}}
| This area was generated with Dilib version V0.6.23. |  |