Clinical, 18F-dopa PET, and genetic analysis of an ethnic Chinese kindred with early-onset parkinsonism and parkin gene mutations
Identifieur interne : 004636 ( Main/Exploration ); précédent : 004635; suivant : 004637Clinical, 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.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Homme.
English descriptors
- KwdEn :
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.
Affiliations:
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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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<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</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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<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>
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<name sortKey="Gwinn Hardy, Katrina" sort="Gwinn Hardy, Katrina" uniqKey="Gwinn Hardy 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>
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