MovDisordV3, Main, Merge, bibRecord, 006867

Clinical, 18F-dopa PET, and genetic analysis of an ethnic Chinese kindred with early-onset parkinsonism and parkin gene mutations

Identifieur interne : 006867 ( Main/Merge ); précédent : 006866; suivant : 006868

Clinical, 18F-dopa PET, and genetic analysis of an ethnic Chinese kindred with early-onset parkinsonism and parkin gene mutations

Auteurs : Ruey-Meei Wu [Taïwan] ; Din-E Shan [Taïwan] ; Chen-Ming Sun [Taïwan] ; Ren-Shyan Liu [Taïwan] ; Wuh-Liang Hwu [Taïwan] ; Chun-Hwei Tai [Taïwan] ; 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.

RBID : Pascal:02-0456851

Descripteurs français

Pascal (Inist)
- Parkinson maladie, Age apparition, Précoce, Tomographie émission positon, Fluorodopa(18F), Produit radioisotopique, Mutation, Gène, Chinois, Ethnie, Phénotype, Etude familiale, Déterminisme génétique, Homme, Parkin.
Wicri :
- topic : Homme.

English descriptors

KwdEn :
- Age of onset, Chinese, Early, Ethnic group, Family study, Fluorodopa(18F), Gene, Genetic determinism, Human, Mutation, Parkinson disease, Phenotype, Positron emission tomography, Radiopharmaceuticals.

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.

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Pascal:02-0456851

Le document en format XML

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F-dopa PET, and genetic analysis of an ethnic Chinese kindred with early-onset parkinsonism and parkin gene mutations</title>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Clinical, <sup>18</sup>
F-dopa PET, and genetic analysis of an ethnic Chinese kindred with early-onset parkinsonism and parkin gene mutations</title>
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<author><name sortKey="Lincoln, Sarah" sort="Lincoln, Sarah" uniqKey="Lincoln S" first="Sarah" last="Lincoln">Sarah Lincoln</name>
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<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
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<seriesStmt><title level="j" type="main">Movement disorders</title>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Age of onset</term>
<term>Chinese</term>
<term>Early</term>
<term>Ethnic group</term>
<term>Family study</term>
<term>Fluorodopa(18F)</term>
<term>Gene</term>
<term>Genetic determinism</term>
<term>Human</term>
<term>Mutation</term>
<term>Parkinson disease</term>
<term>Phenotype</term>
<term>Positron emission tomography</term>
<term>Radiopharmaceuticals</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Parkinson maladie</term>
<term>Age apparition</term>
<term>Précoce</term>
<term>Tomographie émission positon</term>
<term>Fluorodopa(18F)</term>
<term>Produit radioisotopique</term>
<term>Mutation</term>
<term>Gène</term>
<term>Chinois</term>
<term>Ethnie</term>
<term>Phénotype</term>
<term>Etude familiale</term>
<term>Déterminisme génétique</term>
<term>Homme</term>
<term>Parkin</term>
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<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term>
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<front><div type="abstract" xml:lang="en">We report on clinical <sup>18</sup>
F-labeled 6-fluorodopa (<sup>18</sup>
F-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 <sup>18</sup>
F-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.</div>
</front>
</TEI>
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<li>États-Unis</li>
</country>
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<li>Maryland</li>
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<tree><country name="Taïwan"><noRegion><name sortKey="Wu, Ruey Meei" sort="Wu, Ruey Meei" uniqKey="Wu R" first="Ruey-Meei" last="Wu">Ruey-Meei Wu</name>
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<name sortKey="Shan, Din E" sort="Shan, Din E" uniqKey="Shan D" first="Din-E" last="Shan">Din-E Shan</name>
<name sortKey="Sun, Chen Ming" sort="Sun, Chen Ming" uniqKey="Sun C" first="Chen-Ming" last="Sun">Chen-Ming Sun</name>
<name sortKey="Tai, Chun Hwei" sort="Tai, Chun Hwei" uniqKey="Tai C" first="Chun-Hwei" last="Tai">Chun-Hwei Tai</name>
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<country name="États-Unis"><region name="Floride"><name sortKey="Hussey, Jennifer" sort="Hussey, Jennifer" uniqKey="Hussey J" first="Jennifer" last="Hussey">Jennifer Hussey</name>
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<name sortKey="Farrer, Matt" sort="Farrer, Matt" uniqKey="Farrer M" first="Matt" last="Farrer">Matt Farrer</name>
<name sortKey="Gwinn Hardy, Katrina" sort="Gwinn Hardy, Katrina" uniqKey="Gwinn Hardy K" first="Katrina" last="Gwinn-Hardy">Katrina Gwinn-Hardy</name>
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<name sortKey="Lincoln, Sarah" sort="Lincoln, Sarah" uniqKey="Lincoln S" first="Sarah" last="Lincoln">Sarah Lincoln</name>
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   |texte=   Clinical, 18F-dopa PET, and genetic analysis of an ethnic Chinese kindred with early-onset parkinsonism and parkin gene mutations
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	Movement Disorders (revue)
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Movement Disorders (revue)

Clinical, 18F-dopa PET, and genetic analysis of an ethnic Chinese kindred with early-onset parkinsonism and parkin gene mutations

Clinical, 18F-dopa PET, and genetic analysis of an ethnic Chinese kindred with early-onset parkinsonism and parkin gene mutations

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