Presynaptic nigrostriatal function in genetically tested asymptomatic relatives from the pallido-ponto-nigral degeneration family.
Identifieur interne : 003C84 ( Main/Exploration ); précédent : 003C83; suivant : 003C85Presynaptic nigrostriatal function in genetically tested asymptomatic relatives from the pallido-ponto-nigral degeneration family.
Auteurs : A. Kishore [Canada] ; Z K Wszolek ; B J Snow ; R. De La Fuente-Fernandez ; F. Arwert ; M. Wijker ; M. Schulzer ; D B Calne ; F J VingerhoetsSource :
- Neurology [ 0028-3878 ] ; 1996.
English descriptors
- KwdEn :
- MESH :
- diagnostic imaging : Corpus Striatum, Globus Pallidus, Parkinson Disease, Pons, Substantia Nigra.
- Adult, Humans, Middle Aged, Tomography, Emission-Computed.
Abstract
Pallido-ponto-nigral degeneration (PPND) is a dominantly inherited disorder with parkinsonism. We performed PET with [18F]fluorodopa (FD) and, later, gene testing in 12 asymptomatic relatives at risk from a family with PPND and compared the striatal FD uptake constant (Ki) in them with 4 symptomatic individuals and 10 normal control subjects. Four relatives with positive linkage had a significantly reduced Ki from the normal control subjects but to a lesser degree than the symptomatic patients. The mean Ki in the relatives with negative linkage (n = 8) did not differ from normal control subjects. In conclusion, we identified reduced dopaminergic function in asymptomatic relatives with positive genetic linkage from the PPND family. Most of the reduction in this disorder occurs in the fifth decade, when the disease manifests clinically.
PubMed: 8960754
Affiliations:
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Kishore</name><affiliation wicri:level="1"><nlm:affiliation>Neurodegenerative Disorders Center, Vancouver Hospital and Health Sciences Center, Vancouver, British Columbia, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Neurodegenerative Disorders Center, Vancouver Hospital and Health Sciences Center, Vancouver, British Columbia</wicri:regionArea><wicri:noRegion>British Columbia</wicri:noRegion></affiliation></author><author><name sortKey="Wszolek, Z K" sort="Wszolek, Z K" uniqKey="Wszolek Z" first="Z K" last="Wszolek">Z K Wszolek</name></author><author><name sortKey="Snow, B J" sort="Snow, B J" uniqKey="Snow B" first="B J" last="Snow">B J Snow</name></author><author><name sortKey="De La Fuente Fernandez, R" sort="De La Fuente Fernandez, R" uniqKey="De La Fuente Fernandez R" first="R" last="De La Fuente-Fernandez">R. De La Fuente-Fernandez</name></author><author><name sortKey="Arwert, F" sort="Arwert, F" uniqKey="Arwert F" first="F" last="Arwert">F. 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Schulzer</name></author><author><name sortKey="Calne, D B" sort="Calne, D B" uniqKey="Calne D" first="D B" last="Calne">D B Calne</name></author><author><name sortKey="Vingerhoets, F J" sort="Vingerhoets, F J" uniqKey="Vingerhoets F" first="F J" last="Vingerhoets">F J Vingerhoets</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="1996">1996</date><idno type="RBID">pubmed:8960754</idno><idno type="pmid">8960754</idno><idno type="wicri:Area/PubMed/Corpus">001856</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">001856</idno><idno type="wicri:Area/PubMed/Curation">001856</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">001856</idno><idno type="wicri:Area/PubMed/Checkpoint">001856</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">001856</idno><idno type="wicri:Area/Ncbi/Merge">002565</idno><idno type="wicri:Area/Ncbi/Curation">002565</idno><idno type="wicri:Area/Ncbi/Checkpoint">002565</idno><idno type="wicri:doubleKey">0028-3878:1996:Kishore A:presynaptic:nigrostriatal:function</idno><idno type="wicri:Area/Main/Merge">004353</idno><idno type="wicri:Area/Main/Curation">003C84</idno><idno type="wicri:Area/Main/Exploration">003C84</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Presynaptic nigrostriatal function in genetically tested asymptomatic relatives from the pallido-ponto-nigral degeneration family.</title><author><name sortKey="Kishore, A" sort="Kishore, A" uniqKey="Kishore A" first="A" last="Kishore">A. Kishore</name><affiliation wicri:level="1"><nlm:affiliation>Neurodegenerative Disorders Center, Vancouver Hospital and Health Sciences Center, Vancouver, British Columbia, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Neurodegenerative Disorders Center, Vancouver Hospital and Health Sciences Center, Vancouver, British Columbia</wicri:regionArea><wicri:noRegion>British Columbia</wicri:noRegion></affiliation></author><author><name sortKey="Wszolek, Z K" sort="Wszolek, Z K" uniqKey="Wszolek Z" first="Z K" last="Wszolek">Z K Wszolek</name></author><author><name sortKey="Snow, B J" sort="Snow, B J" uniqKey="Snow B" first="B J" last="Snow">B J Snow</name></author><author><name sortKey="De La Fuente Fernandez, R" sort="De La Fuente Fernandez, R" uniqKey="De La Fuente Fernandez R" first="R" last="De La Fuente-Fernandez">R. De La Fuente-Fernandez</name></author><author><name sortKey="Arwert, F" sort="Arwert, F" uniqKey="Arwert F" first="F" last="Arwert">F. Arwert</name></author><author><name sortKey="Wijker, M" sort="Wijker, M" uniqKey="Wijker M" first="M" last="Wijker">M. Wijker</name></author><author><name sortKey="Schulzer, M" sort="Schulzer, M" uniqKey="Schulzer M" first="M" last="Schulzer">M. Schulzer</name></author><author><name sortKey="Calne, D B" sort="Calne, D B" uniqKey="Calne D" first="D B" last="Calne">D B Calne</name></author><author><name sortKey="Vingerhoets, F J" sort="Vingerhoets, F J" uniqKey="Vingerhoets F" first="F J" last="Vingerhoets">F J Vingerhoets</name></author></analytic><series><title level="j">Neurology</title><idno type="ISSN">0028-3878</idno><imprint><date when="1996" type="published">1996</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Corpus Striatum (diagnostic imaging)</term><term>Globus Pallidus (diagnostic imaging)</term><term>Humans</term><term>Middle Aged</term><term>Parkinson Disease (diagnostic imaging)</term><term>Pons (diagnostic imaging)</term><term>Substantia Nigra (diagnostic imaging)</term><term>Tomography, Emission-Computed</term></keywords><keywords scheme="MESH" qualifier="diagnostic imaging" xml:lang="en"><term>Corpus Striatum</term><term>Globus Pallidus</term><term>Parkinson Disease</term><term>Pons</term><term>Substantia Nigra</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Humans</term><term>Middle Aged</term><term>Tomography, Emission-Computed</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Pallido-ponto-nigral degeneration (PPND) is a dominantly inherited disorder with parkinsonism. We performed PET with [18F]fluorodopa (FD) and, later, gene testing in 12 asymptomatic relatives at risk from a family with PPND and compared the striatal FD uptake constant (Ki) in them with 4 symptomatic individuals and 10 normal control subjects. Four relatives with positive linkage had a significantly reduced Ki from the normal control subjects but to a lesser degree than the symptomatic patients. The mean Ki in the relatives with negative linkage (n = 8) did not differ from normal control subjects. In conclusion, we identified reduced dopaminergic function in asymptomatic relatives with positive genetic linkage from the PPND family. Most of the reduction in this disorder occurs in the fifth decade, when the disease manifests clinically.</div></front></TEI><affiliations><list><country><li>Canada</li></country></list><tree><noCountry><name sortKey="Arwert, F" sort="Arwert, F" uniqKey="Arwert F" first="F" last="Arwert">F. Arwert</name><name sortKey="Calne, D B" sort="Calne, D B" uniqKey="Calne D" first="D B" last="Calne">D B Calne</name><name sortKey="De La Fuente Fernandez, R" sort="De La Fuente Fernandez, R" uniqKey="De La Fuente Fernandez R" first="R" last="De La Fuente-Fernandez">R. De La Fuente-Fernandez</name><name sortKey="Schulzer, M" sort="Schulzer, M" uniqKey="Schulzer M" first="M" last="Schulzer">M. Schulzer</name><name sortKey="Snow, B J" sort="Snow, B J" uniqKey="Snow B" first="B J" last="Snow">B J Snow</name><name sortKey="Vingerhoets, F J" sort="Vingerhoets, F J" uniqKey="Vingerhoets F" first="F J" last="Vingerhoets">F J Vingerhoets</name><name sortKey="Wijker, M" sort="Wijker, M" uniqKey="Wijker M" first="M" last="Wijker">M. Wijker</name><name sortKey="Wszolek, Z K" sort="Wszolek, Z K" uniqKey="Wszolek Z" first="Z K" last="Wszolek">Z K Wszolek</name></noCountry><country name="Canada"><noRegion><name sortKey="Kishore, A" sort="Kishore, A" uniqKey="Kishore A" first="A" last="Kishore">A. 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