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:
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<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>
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<term>Tropanes</term>
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<keywords scheme="MESH" qualifier="blood supply" xml:lang="en"><term>Brain</term>
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<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>
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<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>
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<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>
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<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>
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<affiliations><list><country><li>Taïwan</li>
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<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>
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<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>
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