MovDisordV3, PascalFrancis, Curation, bibRecord, 002025

Nigrostriatal Dysfunction in Homozygous and Heterozygous Parkin Gene Carriers: An 18F-Dopa PET Progression Study

Identifieur interne : 002025 ( PascalFrancis/Curation ); précédent : 002024; suivant : 002026

Nigrostriatal Dysfunction in Homozygous and Heterozygous Parkin Gene Carriers: An 18F-Dopa PET Progression Study

Auteurs : Nicola Pavese [Royaume-Uni] ; Naheed L. Khan [Royaume-Uni] ; Christoph Scherfler [Royaume-Uni] ; Lisa Cohen [Royaume-Uni] ; David J. Brooks [Royaume-Uni] ; Nicholas W. Wood [Royaume-Uni] ; Kailash P. Bhatia [Royaume-Uni] ; Niall P. Quinn [Royaume-Uni] ; Andrew J. Lees [Royaume-Uni] ; Paola Piccini [Royaume-Uni]

Source :

Movement disorders [ 0885-3185 ] ; 2009.

RBID : Pascal:10-0036285

Descripteurs français

Pascal (Inist)
- Maladie de Parkinson, Pathologie du système nerveux, Trouble fonctionnel, Homozygotie, Parkine, Porteur, Dopa, Tomoscintigraphie, Tomographie par émission de positons.

English descriptors

KwdEn :
- Carrier, Dopa, Dysfunction, Emission tomography, Homozygosity, Nervous system diseases, Parkin, Parkinson disease, Positron emission tomography.

Abstract

Little is known about the rate of progression of striatal dysfunction in subjects with parkin-linked parkinsonism. Being a heterozygous parkin gene carrier may confer susceptibility to Parkinson's disease (PD). In a previous ¹⁸F-dopa PET study, we reported that 69% of carriers of a single parkin mutation showed subclinical loss of putamen dopaminergic function. Using serial ¹⁸F-dopa PET, the present longitudinal study addresses rates of progression of nigrostriatal dysfunction in both compound heterozygous (parkin-linked parkinsonism) and single heterozygous parkin gene carriers. Three symptomatic patients who were compound heterozygotes for parkin gene mutations and six asymptomatic heterozygous carriers were clinically assessed and had ¹⁸F-dopa PET at baseline and again after 5 years. The patients with symptomatic parkin showed a mean 0.5% annual reduction in putamen ¹⁸F-dopa uptake over 5 years while caudate ¹⁸F-dopa uptake declined by a mean annual rate of 2 %. The asymptomatic heterozygote gene carriers showed a mean 0.56% annual reduction in putamen and 0.62 % annual reduction in caudate ¹⁸F-dopa uptake. Neurological examination at both baseline and follow-up showed no evidence of parkinsonism. Loss of nigrostriatal dysfunction in parkin-linked parkinsonism occurs at a very slow rate compared to the 9-12% annual loss of putamen ¹⁸F-dopa uptake reported for idiopathic PD. Although subclinical reductions of striatal ¹⁸F-dopa uptake are common in carriers of a single parkin mutation their slow rate of progression suggests that few if any of these will develop clinical parkinsonism.

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Pascal:10-0036285

Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Nigrostriatal Dysfunction in Homozygous and Heterozygous Parkin Gene Carriers: An <sup>18</sup>
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<author><name sortKey="Brooks, David J" sort="Brooks, David J" uniqKey="Brooks D" first="David J." last="Brooks">David J. Brooks</name>
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<author><name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W." last="Wood">Nicholas W. Wood</name>
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<author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P." last="Bhatia">Kailash P. Bhatia</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology</s1>
<s2>London</s2>
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<sZ>7 aut.</sZ>
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<author><name sortKey="Quinn, Niall P" sort="Quinn, Niall P" uniqKey="Quinn N" first="Niall P." last="Quinn">Niall P. Quinn</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
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<author><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J." last="Lees">Andrew J. Lees</name>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Reta Lila Weston Institute of Neurological Studies, University College</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>9 aut.</sZ>
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<author><name sortKey="Piccini, Paola" sort="Piccini, Paola" uniqKey="Piccini P" first="Paola" last="Piccini">Paola Piccini</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>MRC Clinical Science Centre, Imperial College</s1>
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<s3>GBR</s3>
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<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>10 aut.</sZ>
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<country>Royaume-Uni</country>
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<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Division of Neuroscience and Mental Health, Imperial College</s1>
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<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
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<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2009">2009</date>
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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>Carrier</term>
<term>Dopa</term>
<term>Dysfunction</term>
<term>Emission tomography</term>
<term>Homozygosity</term>
<term>Nervous system diseases</term>
<term>Parkin</term>
<term>Parkinson disease</term>
<term>Positron emission tomography</term>
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<keywords scheme="Pascal" xml:lang="fr"><term>Maladie de Parkinson</term>
<term>Pathologie du   système nerveux</term>
<term>Trouble fonctionnel</term>
<term>Homozygotie</term>
<term>Parkine</term>
<term>Porteur</term>
<term>Dopa</term>
<term>Tomoscintigraphie</term>
<term>Tomographie par émission de positons</term>
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<front><div type="abstract" xml:lang="en">Little is known about the rate of progression of striatal dysfunction in subjects with parkin-linked parkinsonism. Being a heterozygous parkin gene carrier may confer susceptibility to Parkinson's disease (PD). In a previous <sup>18</sup>
F-dopa PET study, we reported that 69% of carriers of a single parkin mutation showed subclinical loss of putamen dopaminergic function. Using serial <sup>18</sup>
F-dopa PET, the present longitudinal study addresses rates of progression of nigrostriatal dysfunction in both compound heterozygous (parkin-linked parkinsonism) and single heterozygous parkin gene carriers. Three symptomatic patients who were compound heterozygotes for parkin gene mutations and six asymptomatic heterozygous carriers were clinically assessed and had <sup>18</sup>
F-dopa PET at baseline and again after 5 years. The patients with symptomatic parkin showed a mean 0.5% annual reduction in putamen <sup>18</sup>
F-dopa uptake over 5 years while caudate <sup>18</sup>
F-dopa uptake declined by a mean annual rate of 2 %. The asymptomatic heterozygote gene carriers showed a mean 0.56% annual reduction in putamen and 0.62 % annual reduction in caudate <sup>18</sup>
F-dopa uptake. Neurological examination at both baseline and follow-up showed no evidence of parkinsonism. Loss of nigrostriatal dysfunction in parkin-linked parkinsonism occurs at a very slow rate compared to the 9-12% annual loss of putamen <sup>18</sup>
F-dopa uptake reported for idiopathic PD. Although subclinical reductions of striatal <sup>18</sup>
F-dopa uptake are common in carriers of a single parkin mutation their slow rate of progression suggests that few if any of these will develop clinical parkinsonism.</div>
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<fA08 i1="01" i2="1" l="ENG"><s1>Nigrostriatal Dysfunction in Homozygous and Heterozygous Parkin Gene Carriers: An <sup>18</sup>
F-Dopa PET Progression Study</s1>
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<fA11 i1="01" i2="1"><s1>PAVESE (Nicola)</s1>
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<fA14 i1="02"><s1>Division of Neuroscience and Mental Health, Imperial College</s1>
<s2>London</s2>
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<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>10 aut.</sZ>
</fA14>
<fA14 i1="03"><s1>Department of Molecular Pathogenesis, University College</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>2 aut.</sZ>
<sZ>6 aut.</sZ>
</fA14>
<fA14 i1="04"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
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<fA14 i1="05"><s1>Reta Lila Weston Institute of Neurological Studies, University College</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>9 aut.</sZ>
</fA14>
<fA20><s1>2260-2266</s1>
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F-dopa PET, the present longitudinal study addresses rates of progression of nigrostriatal dysfunction in both compound heterozygous (parkin-linked parkinsonism) and single heterozygous parkin gene carriers. Three symptomatic patients who were compound heterozygotes for parkin gene mutations and six asymptomatic heterozygous carriers were clinically assessed and had <sup>18</sup>
F-dopa PET at baseline and again after 5 years. The patients with symptomatic parkin showed a mean 0.5% annual reduction in putamen <sup>18</sup>
F-dopa uptake over 5 years while caudate <sup>18</sup>
F-dopa uptake declined by a mean annual rate of 2 %. The asymptomatic heterozygote gene carriers showed a mean 0.56% annual reduction in putamen and 0.62 % annual reduction in caudate <sup>18</sup>
F-dopa uptake. Neurological examination at both baseline and follow-up showed no evidence of parkinsonism. Loss of nigrostriatal dysfunction in parkin-linked parkinsonism occurs at a very slow rate compared to the 9-12% annual loss of putamen <sup>18</sup>
F-dopa uptake reported for idiopathic PD. Although subclinical reductions of striatal <sup>18</sup>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Nigrostriatal Dysfunction in Homozygous and Heterozygous Parkin Gene Carriers: An 18F-Dopa PET Progression Study

Nigrostriatal Dysfunction in Homozygous and Heterozygous Parkin Gene Carriers: An 18F-Dopa PET Progression Study

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