Clinical, 18F‐dopa PET, and genetic analysis of an ethnic Chinese kindred with early‐onset parkinsonism and parkin gene mutations
Identifieur interne : 004537 ( Main/Exploration ); précédent : 004536; suivant : 004538Clinical, 18F‐dopa PET, and genetic analysis of an ethnic Chinese kindred with early‐onset parkinsonism and parkin gene mutations
Auteurs : Ruey-Meei Wu [République populaire de Chine] ; Din-E Shan [République populaire de Chine] ; Chen-Ming Sun [République populaire de Chine] ; Ren-Shyan Liu [République populaire de Chine] ; Wuh-Liang Hwu [République populaire de Chine] ; Chun-Hwei Tai [République populaire de Chine] ; Jennifer Hussey [États-Unis] ; Andrew West [États-Unis] ; Katrina Gwinn-Hardy [États-Unis] ; John Hardy [États-Unis] ; Judy Chen [États-Unis] ; Matt Farrer [États-Unis] ; Sarah Lincoln [États-Unis]Source :
- Movement Disorders [ 0885-3185 ] ; 2002-07.
Descripteurs français
- Wicri :
- geographic : Taïwan.
English descriptors
- KwdEn :
- 18F‐dopa PET, Adult, Alleles, Asian Continental Ancestry Group (genetics), Caudate Nucleus (physiopathology), Caudate Nucleus (radionuclide imaging), Chinese, Chromosome Deletion, Chromosomes, Human, Pair 6, Dominance, Cerebral (physiology), Dopamine (physiology), Female, Fluorodeoxyglucose F18 (diagnostic use), Haplotypes, Humans, Ligases (genetics), Male, Mutation (genetics), Parkinson Disease (genetics), Parkinson Disease (physiopathology), Parkinson Disease (radionuclide imaging), Parkinson's disease, Pedigree, Putamen (physiopathology), Putamen (radionuclide imaging), RNA, Messenger (genetics), Receptors, Presynaptic (physiology), Taiwan, Tomography, Emission-Computed, Ubiquitin-Protein Ligases, genetics, parkin.
- MESH :
- chemical , diagnostic use : Fluorodeoxyglucose F18.
- chemical , genetics : Ligases, RNA, Messenger.
- chemical , physiology : Dopamine, Receptors, Presynaptic.
- geographic : Taiwan, Ubiquitin-Protein Ligases.
- genetics : Asian Continental Ancestry Group, Mutation, Parkinson Disease.
- physiology : Dominance, Cerebral.
- physiopathology : Caudate Nucleus, Parkinson Disease, Putamen.
- radionuclide imaging : Caudate Nucleus, Parkinson Disease, Putamen.
- Adult, Alleles, Chromosome Deletion, Chromosomes, Human, Pair 6, Female, Haplotypes, Humans, Male, Pedigree, Tomography, Emission-Computed.
Abstract
We report on clinical 18F‐labeled 6‐fluorodopa (18F‐dopa) positron emission tomography (PET) and molecular genetic analyses of an ethnic Chinese family in which three siblings presented with early‐onset Parkinson's disease. As described in some parkin patients, neither sleep benefit nor diurnal fluctuation was noted. Interestingly, depression, anxiety, and obsessive–compulsive disorders were manifest. The 18F‐dopa PET scans showed bilateral presynaptic dopaminergic dysfunction without marked lateralization. Molecular genetic analysis showed identical chromosome 6 haplotypes inherited by affected subjects, with alternate allelic deletions of parkin exons 3 and 4. Furthermore, mRNA analyses identified aberrantly spliced parkin transcripts, suggesting that unusual parkin protein isoforms may be expressed in the brain and retain some function. © 2002 Movement Disorder Society
Url:
DOI: 10.1002/mds.10184
Affiliations:
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first="Din-E" last="Shan">Din-E Shan</name><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Neurological Institute and the National PET/Cyclotron Center, Taipei Veterans General Hospital and National Yang‐Ming University School of Medicine, Taipei, Taiwan</wicri:regionArea><wicri:noRegion>Taiwan</wicri:noRegion></affiliation></author><author><name sortKey="Sun, Chen Ing" sort="Sun, Chen Ing" uniqKey="Sun C" first="Chen-Ming" last="Sun">Chen-Ming Sun</name><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Neurological Institute and the National PET/Cyclotron Center, Taipei Veterans General Hospital and National Yang‐Ming University School of Medicine, Taipei, Taiwan</wicri:regionArea><wicri:noRegion>Taiwan</wicri:noRegion></affiliation></author><author><name sortKey="Liu, Ren Hyan" sort="Liu, Ren Hyan" uniqKey="Liu R" first="Ren-Shyan" last="Liu">Ren-Shyan Liu</name><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Neurological Institute and the National PET/Cyclotron Center, Taipei Veterans General Hospital and National Yang‐Ming University School of Medicine, Taipei, Taiwan</wicri:regionArea><wicri:noRegion>Taiwan</wicri:noRegion></affiliation></author><author><name sortKey="Hwu, Wuh Iang" sort="Hwu, Wuh Iang" uniqKey="Hwu W" first="Wuh-Liang" last="Hwu">Wuh-Liang Hwu</name><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Departments of Neurology, Pediatrics and Medical Genetics, College of Medicine, National Taiwan University, and National Taiwan University Hospital, Taipei, Taiwan</wicri:regionArea><wicri:noRegion>Taiwan</wicri:noRegion></affiliation></author><author><name sortKey="Tai, Chun Wei" sort="Tai, Chun Wei" uniqKey="Tai C" first="Chun-Hwei" last="Tai">Chun-Hwei Tai</name><affiliation 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Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation></author><author><name sortKey="Gwinn Ardy, Katrina" sort="Gwinn Ardy, Katrina" uniqKey="Gwinn Ardy K" first="Katrina" last="Gwinn-Hardy">Katrina Gwinn-Hardy</name><affiliation wicri:level="1"><country xml:lang="fr">États-Unis</country><wicri:regionArea>National Institute of Neurological disease and Stroke, NIH, Division of Neurogenetics, Bethesda Maryland</wicri:regionArea><wicri:noRegion>Bethesda Maryland</wicri:noRegion></affiliation></author><author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation></author><author><name sortKey="Chen, Judy" sort="Chen, Judy" uniqKey="Chen J" first="Judy" last="Chen">Judy Chen</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>University of California Los Angeles, Department of Medicine, Los Angeles, California</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Farrer, Matt" sort="Farrer, Matt" uniqKey="Farrer M" first="Matt" last="Farrer">Matt Farrer</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation></author><author><name sortKey="Lincoln, Sarah" sort="Lincoln, Sarah" uniqKey="Lincoln S" first="Sarah" last="Lincoln">Sarah Lincoln</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</wicri:regionArea><placeName><region type="state">Floride</region></placeName></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>New York</pubPlace><date type="published" when="2002-07">2002-07</date><biblScope unit="vol">17</biblScope><biblScope unit="issue">4</biblScope><biblScope unit="page" from="670">670</biblScope><biblScope unit="page" to="675">675</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">0FDBBE344D9362584EB7236F9662D505F6F75128</idno><idno type="DOI">10.1002/mds.10184</idno><idno type="ArticleID">MDS10184</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>18F‐dopa PET</term><term>Adult</term><term>Alleles</term><term>Asian Continental Ancestry Group (genetics)</term><term>Caudate Nucleus (physiopathology)</term><term>Caudate Nucleus (radionuclide imaging)</term><term>Chinese</term><term>Chromosome Deletion</term><term>Chromosomes, Human, Pair 6</term><term>Dominance, Cerebral (physiology)</term><term>Dopamine (physiology)</term><term>Female</term><term>Fluorodeoxyglucose F18 (diagnostic use)</term><term>Haplotypes</term><term>Humans</term><term>Ligases (genetics)</term><term>Male</term><term>Mutation (genetics)</term><term>Parkinson Disease (genetics)</term><term>Parkinson Disease (physiopathology)</term><term>Parkinson Disease (radionuclide imaging)</term><term>Parkinson's disease</term><term>Pedigree</term><term>Putamen (physiopathology)</term><term>Putamen (radionuclide imaging)</term><term>RNA, Messenger (genetics)</term><term>Receptors, Presynaptic (physiology)</term><term>Taiwan</term><term>Tomography, Emission-Computed</term><term>Ubiquitin-Protein Ligases</term><term>genetics</term><term>parkin</term></keywords><keywords scheme="MESH" type="chemical" qualifier="diagnostic use" xml:lang="en"><term>Fluorodeoxyglucose F18</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Ligases</term><term>RNA, Messenger</term></keywords><keywords scheme="MESH" type="chemical" qualifier="physiology" xml:lang="en"><term>Dopamine</term><term>Receptors, Presynaptic</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>Taiwan</term><term>Ubiquitin-Protein Ligases</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Asian Continental Ancestry Group</term><term>Mutation</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="physiology" xml:lang="en"><term>Dominance, Cerebral</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Caudate Nucleus</term><term>Parkinson Disease</term><term>Putamen</term></keywords><keywords scheme="MESH" qualifier="radionuclide imaging" xml:lang="en"><term>Caudate Nucleus</term><term>Parkinson Disease</term><term>Putamen</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Alleles</term><term>Chromosome Deletion</term><term>Chromosomes, Human, Pair 6</term><term>Female</term><term>Haplotypes</term><term>Humans</term><term>Male</term><term>Pedigree</term><term>Tomography, Emission-Computed</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Taïwan</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We report on clinical 18F‐labeled 6‐fluorodopa (18F‐dopa) positron emission tomography (PET) and molecular genetic analyses of an ethnic Chinese family in which three siblings presented with early‐onset Parkinson's disease. As described in some parkin patients, neither sleep benefit nor diurnal fluctuation was noted. Interestingly, depression, anxiety, and obsessive–compulsive disorders were manifest. The 18F‐dopa PET scans showed bilateral presynaptic dopaminergic dysfunction without marked lateralization. Molecular genetic analysis showed identical chromosome 6 haplotypes inherited by affected subjects, with alternate allelic deletions of parkin exons 3 and 4. Furthermore, mRNA analyses identified aberrantly spliced parkin transcripts, suggesting that unusual parkin protein isoforms may be expressed in the brain and retain some function. © 2002 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>République populaire de Chine</li><li>États-Unis</li></country><region><li>Californie</li><li>Floride</li></region></list><tree><country name="République populaire de Chine"><noRegion><name sortKey="Wu, Ruey Eei" sort="Wu, Ruey Eei" uniqKey="Wu R" first="Ruey-Meei" last="Wu">Ruey-Meei Wu</name></noRegion><name sortKey="Hwu, Wuh Iang" sort="Hwu, Wuh Iang" uniqKey="Hwu W" first="Wuh-Liang" last="Hwu">Wuh-Liang Hwu</name><name sortKey="Liu, Ren Hyan" sort="Liu, Ren Hyan" uniqKey="Liu R" first="Ren-Shyan" last="Liu">Ren-Shyan Liu</name><name sortKey="Shan, Din" sort="Shan, Din" uniqKey="Shan D" first="Din-E" last="Shan">Din-E Shan</name><name sortKey="Sun, Chen Ing" sort="Sun, Chen Ing" uniqKey="Sun C" first="Chen-Ming" last="Sun">Chen-Ming Sun</name><name sortKey="Tai, Chun Wei" sort="Tai, Chun Wei" uniqKey="Tai C" first="Chun-Hwei" last="Tai">Chun-Hwei Tai</name></country><country name="États-Unis"><region name="Floride"><name sortKey="Hussey, Jennifer" sort="Hussey, Jennifer" uniqKey="Hussey J" first="Jennifer" last="Hussey">Jennifer Hussey</name></region><name sortKey="Chen, Judy" sort="Chen, Judy" uniqKey="Chen J" first="Judy" last="Chen">Judy Chen</name><name sortKey="Farrer, Matt" sort="Farrer, Matt" uniqKey="Farrer M" first="Matt" last="Farrer">Matt Farrer</name><name sortKey="Gwinn Ardy, Katrina" sort="Gwinn Ardy, Katrina" uniqKey="Gwinn Ardy K" first="Katrina" last="Gwinn-Hardy">Katrina Gwinn-Hardy</name><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name><name sortKey="Lincoln, Sarah" sort="Lincoln, Sarah" uniqKey="Lincoln S" first="Sarah" last="Lincoln">Sarah Lincoln</name><name sortKey="West, Andrew" sort="West, Andrew" uniqKey="West A" first="Andrew" last="West">Andrew West</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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