Cerebrotendinous xanthomatosis patients with and without parkinsonism: clinical characteristics and neuroimaging findings.
Identifieur interne : 002A09 ( Ncbi/Checkpoint ); précédent : 002A08; suivant : 002A10Cerebrotendinous xanthomatosis patients with and without parkinsonism: clinical characteristics and neuroimaging findings.
Auteurs : Chen-San Su [Taïwan] ; 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 : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2010.
English descriptors
- KwdEn :
- Adult, Brain (blood supply), Brain (pathology), Cholestanetriol 26-Monooxygenase (genetics), Chromosomes, Human, Pair 2 (genetics), DNA Mutational Analysis, Female, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Organotechnetium Compounds (diagnostic use), Parkinsonian Disorders (diagnosis), Parkinsonian Disorders (epidemiology), Point Mutation (genetics), Radiopharmaceuticals (diagnostic use), Severity of Illness Index, Tomography, Emission-Computed, Single-Photon, Tropanes (diagnostic use), Xanthomatosis, Cerebrotendinous (diagnosis), Xanthomatosis, Cerebrotendinous (epidemiology).
- 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 (99m)Tc-[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)] ((99m)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 (99m)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 (99m)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. (99m)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.
DOI: 10.1002/mds.22979
PubMed: 20108380
Affiliations:
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pubmed:20108380Le document en format XML
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<author><name sortKey="Su, Chen San" sort="Su, Chen San" uniqKey="Su C" first="Chen-San" last="Su">Chen-San Su</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Chang Gung Memorial Hospital-Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung, Taiwan.</nlm:affiliation>
<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>
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<author><name sortKey="Lui, Chun Chung" sort="Lui, Chun Chung" uniqKey="Lui C" first="Chun-Chung" last="Lui">Chun-Chung Lui</name>
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<author><name sortKey="Pan, Tai Long" sort="Pan, Tai Long" uniqKey="Pan T" first="Tai-Long" last="Pan">Tai-Long Pan</name>
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<author><name sortKey="Lu, Chen Hsien" sort="Lu, Chen Hsien" uniqKey="Lu C" first="Chen-Hsien" last="Lu">Chen-Hsien Lu</name>
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<author><name sortKey="Chuang, Yao Chung" sort="Chuang, Yao Chung" uniqKey="Chuang Y" first="Yao-Chung" last="Chuang">Yao-Chung Chuang</name>
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<author><name sortKey="Huang, Chi Ren" sort="Huang, Chi Ren" uniqKey="Huang C" first="Chi-Ren" last="Huang">Chi-Ren Huang</name>
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<author><name sortKey="Tsai, Nei Wen" sort="Tsai, Nei Wen" uniqKey="Tsai N" first="Nei-Wen" last="Tsai">Nei-Wen Tsai</name>
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<author><name sortKey="Hsieh, Mei Jen" sort="Hsieh, Mei Jen" uniqKey="Hsieh M" first="Mei-Jen" last="Hsieh">Mei-Jen Hsieh</name>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
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<term>Brain (blood supply)</term>
<term>Brain (pathology)</term>
<term>Cholestanetriol 26-Monooxygenase (genetics)</term>
<term>Chromosomes, Human, Pair 2 (genetics)</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>Organotechnetium Compounds (diagnostic use)</term>
<term>Parkinsonian Disorders (diagnosis)</term>
<term>Parkinsonian Disorders (epidemiology)</term>
<term>Point Mutation (genetics)</term>
<term>Radiopharmaceuticals (diagnostic use)</term>
<term>Severity of Illness Index</term>
<term>Tomography, Emission-Computed, Single-Photon</term>
<term>Tropanes (diagnostic use)</term>
<term>Xanthomatosis, Cerebrotendinous (diagnosis)</term>
<term>Xanthomatosis, Cerebrotendinous (epidemiology)</term>
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<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Cholestanetriol 26-Monooxygenase</term>
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<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Parkinsonian Disorders</term>
<term>Xanthomatosis, Cerebrotendinous</term>
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<term>Xanthomatosis, Cerebrotendinous</term>
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<term>Male</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 (99m)Tc-[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)] ((99m)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 (99m)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 (99m)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. (99m)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.</div>
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<tree><noCountry><name sortKey="Chang, Chiung Chih" sort="Chang, Chiung Chih" uniqKey="Chang C" first="Chiung-Chih" last="Chang">Chiung-Chih Chang</name>
<name sortKey="Chang, Wen Neng" sort="Chang, Wen Neng" uniqKey="Chang W" first="Wen-Neng" last="Chang">Wen-Neng Chang</name>
<name sortKey="Chuang, Yao Chung" sort="Chuang, Yao Chung" uniqKey="Chuang Y" first="Yao-Chung" last="Chuang">Yao-Chung Chuang</name>
<name sortKey="Hsieh, Mei Jen" sort="Hsieh, Mei Jen" uniqKey="Hsieh M" first="Mei-Jen" last="Hsieh">Mei-Jen Hsieh</name>
<name sortKey="Huang, Chi Ren" sort="Huang, Chi Ren" uniqKey="Huang C" first="Chi-Ren" last="Huang">Chi-Ren Huang</name>
<name sortKey="Huang, Shu Hua" sort="Huang, Shu Hua" uniqKey="Huang S" first="Shu-Hua" last="Huang">Shu-Hua Huang</name>
<name sortKey="Lu, Chen Hsien" sort="Lu, Chen Hsien" uniqKey="Lu C" first="Chen-Hsien" last="Lu">Chen-Hsien Lu</name>
<name sortKey="Lui, Chun Chung" sort="Lui, Chun Chung" uniqKey="Lui C" first="Chun-Chung" last="Lui">Chun-Chung Lui</name>
<name sortKey="Pan, Tai Long" sort="Pan, Tai Long" uniqKey="Pan T" first="Tai-Long" last="Pan">Tai-Long Pan</name>
<name sortKey="Tsai, Nei Wen" sort="Tsai, Nei Wen" uniqKey="Tsai N" first="Nei-Wen" last="Tsai">Nei-Wen Tsai</name>
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