Nigrostriatal dysfunction in homozygous and heterozygous parkin gene carriers: an 18F-dopa PET progression study.
Identifieur interne : 002846 ( Ncbi/Checkpoint ); précédent : 002845; suivant : 002847Nigrostriatal dysfunction in homozygous and heterozygous parkin gene carriers: an 18F-dopa PET progression study.
Auteurs : Nicola Pavese [Royaume-Uni] ; Naheed L. Khan ; Christoph Scherfler ; Lisa Cohen ; David J. Brooks ; Nicholas W. Wood ; Kailash P. Bhatia ; Niall P. Quinn ; Andrew J. Lees ; Paola PicciniSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2009.
English descriptors
- KwdEn :
- Aged, Corpus Striatum (pathology), Corpus Striatum (physiopathology), Corpus Striatum (radionuclide imaging), Dihydroxyphenylalanine (analogs & derivatives), Dihydroxyphenylalanine (diagnostic use), Dihydroxyphenylalanine (drug effects), Female, Heterozygote, Humans, Longitudinal Studies, Male, Middle Aged, Parkinson Disease (genetics), Parkinson Disease (pathology), Parkinson Disease (radionuclide imaging), Positron-Emission Tomography (methods), Substantia Nigra (pathology), Substantia Nigra (physiopathology), Substantia Nigra (radionuclide imaging), Ubiquitin-Protein Ligases (genetics).
- MESH :
- chemical , analogs & derivatives : Dihydroxyphenylalanine.
- chemical , diagnostic use : Dihydroxyphenylalanine.
- chemical , drug effects : Dihydroxyphenylalanine.
- genetics : Parkinson Disease, Ubiquitin-Protein Ligases.
- methods : Positron-Emission Tomography.
- pathology : Corpus Striatum, Parkinson Disease, Substantia Nigra.
- physiopathology : Corpus Striatum, Substantia Nigra.
- radionuclide imaging : Corpus Striatum, Parkinson Disease, Substantia Nigra.
- Aged, Female, Heterozygote, Humans, Longitudinal Studies, Male, Middle Aged.
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 (18)F-dopa PET study, we reported that 69% of carriers of a single parkin mutation showed subclinical loss of putamen dopaminergic function. Using serial (18)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 (18)F-dopa PET at baseline and again after 5 years. The patients with symptomatic parkin showed a mean 0.5% annual reduction in putamen (18)F-dopa uptake over 5 years while caudate (18)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 (18)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 (18)F-dopa uptake reported for idiopathic PD. Although subclinical reductions of striatal (18)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.
DOI: 10.1002/mds.22817
PubMed: 19845000
Affiliations:
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Khan</name></author><author><name sortKey="Scherfler, Christoph" sort="Scherfler, Christoph" uniqKey="Scherfler C" first="Christoph" last="Scherfler">Christoph Scherfler</name></author><author><name sortKey="Cohen, Lisa" sort="Cohen, Lisa" uniqKey="Cohen L" first="Lisa" last="Cohen">Lisa Cohen</name></author><author><name sortKey="Brooks, David J" sort="Brooks, David J" uniqKey="Brooks D" first="David J" last="Brooks">David J. Brooks</name></author><author><name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W" last="Wood">Nicholas W. Wood</name></author><author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P" last="Bhatia">Kailash P. Bhatia</name></author><author><name sortKey="Quinn, Niall P" sort="Quinn, Niall P" uniqKey="Quinn N" first="Niall P" last="Quinn">Niall P. Quinn</name></author><author><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J" last="Lees">Andrew J. Lees</name></author><author><name sortKey="Piccini, Paola" sort="Piccini, Paola" uniqKey="Piccini P" first="Paola" last="Piccini">Paola Piccini</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2009">2009</date><idno type="doi">10.1002/mds.22817</idno><idno type="RBID">pubmed:19845000</idno><idno type="pmid">19845000</idno><idno type="wicri:Area/PubMed/Corpus">001B37</idno><idno type="wicri:Area/PubMed/Curation">001B37</idno><idno type="wicri:Area/PubMed/Checkpoint">001C91</idno><idno type="wicri:Area/Ncbi/Merge">002846</idno><idno type="wicri:Area/Ncbi/Curation">002846</idno><idno type="wicri:Area/Ncbi/Checkpoint">002846</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Nigrostriatal dysfunction in homozygous and heterozygous parkin gene carriers: an 18F-dopa PET progression study.</title><author><name sortKey="Pavese, Nicola" sort="Pavese, Nicola" uniqKey="Pavese N" first="Nicola" last="Pavese">Nicola Pavese</name><affiliation wicri:level="3"><nlm:affiliation>MRC Clinical Science Centre, Imperial College, London, United Kingdom. nicola.pavese@ csc.mrc.ac.uk</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>MRC Clinical Science Centre, Imperial College, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Khan, Naheed L" sort="Khan, Naheed L" uniqKey="Khan N" first="Naheed L" last="Khan">Naheed L. Khan</name></author><author><name sortKey="Scherfler, Christoph" sort="Scherfler, Christoph" uniqKey="Scherfler C" first="Christoph" last="Scherfler">Christoph Scherfler</name></author><author><name sortKey="Cohen, Lisa" sort="Cohen, Lisa" uniqKey="Cohen L" first="Lisa" last="Cohen">Lisa Cohen</name></author><author><name sortKey="Brooks, David J" sort="Brooks, David J" uniqKey="Brooks D" first="David J" last="Brooks">David J. Brooks</name></author><author><name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W" last="Wood">Nicholas W. Wood</name></author><author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P" last="Bhatia">Kailash P. Bhatia</name></author><author><name sortKey="Quinn, Niall P" sort="Quinn, Niall P" uniqKey="Quinn N" first="Niall P" last="Quinn">Niall P. Quinn</name></author><author><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J" last="Lees">Andrew J. Lees</name></author><author><name sortKey="Piccini, Paola" sort="Piccini, Paola" uniqKey="Piccini P" first="Paola" last="Piccini">Paola Piccini</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2009" type="published">2009</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aged</term><term>Corpus Striatum (pathology)</term><term>Corpus Striatum (physiopathology)</term><term>Corpus Striatum (radionuclide imaging)</term><term>Dihydroxyphenylalanine (analogs & derivatives)</term><term>Dihydroxyphenylalanine (diagnostic use)</term><term>Dihydroxyphenylalanine (drug effects)</term><term>Female</term><term>Heterozygote</term><term>Humans</term><term>Longitudinal Studies</term><term>Male</term><term>Middle Aged</term><term>Parkinson Disease (genetics)</term><term>Parkinson Disease (pathology)</term><term>Parkinson Disease (radionuclide imaging)</term><term>Positron-Emission Tomography (methods)</term><term>Substantia Nigra (pathology)</term><term>Substantia Nigra (physiopathology)</term><term>Substantia Nigra (radionuclide imaging)</term><term>Ubiquitin-Protein Ligases (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="analogs & derivatives" xml:lang="en"><term>Dihydroxyphenylalanine</term></keywords><keywords scheme="MESH" type="chemical" qualifier="diagnostic use" xml:lang="en"><term>Dihydroxyphenylalanine</term></keywords><keywords scheme="MESH" type="chemical" qualifier="drug effects" xml:lang="en"><term>Dihydroxyphenylalanine</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinson Disease</term><term>Ubiquitin-Protein Ligases</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Positron-Emission Tomography</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Corpus Striatum</term><term>Parkinson Disease</term><term>Substantia Nigra</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Corpus Striatum</term><term>Substantia Nigra</term></keywords><keywords scheme="MESH" qualifier="radionuclide imaging" xml:lang="en"><term>Corpus Striatum</term><term>Parkinson Disease</term><term>Substantia Nigra</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Aged</term><term>Female</term><term>Heterozygote</term><term>Humans</term><term>Longitudinal Studies</term><term>Male</term><term>Middle Aged</term></keywords></textClass></profileDesc></teiHeader><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 (18)F-dopa PET study, we reported that 69% of carriers of a single parkin mutation showed subclinical loss of putamen dopaminergic function. Using serial (18)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 (18)F-dopa PET at baseline and again after 5 years. The patients with symptomatic parkin showed a mean 0.5% annual reduction in putamen (18)F-dopa uptake over 5 years while caudate (18)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 (18)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 (18)F-dopa uptake reported for idiopathic PD. Although subclinical reductions of striatal (18)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></front></TEI><affiliations><list><country><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>Grand Londres</li></region><settlement><li>Londres</li></settlement></list><tree><noCountry><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P" last="Bhatia">Kailash P. Bhatia</name><name sortKey="Brooks, David J" sort="Brooks, David J" uniqKey="Brooks D" first="David J" last="Brooks">David J. Brooks</name><name sortKey="Cohen, Lisa" sort="Cohen, Lisa" uniqKey="Cohen L" first="Lisa" last="Cohen">Lisa Cohen</name><name sortKey="Khan, Naheed L" sort="Khan, Naheed L" uniqKey="Khan N" first="Naheed L" last="Khan">Naheed L. Khan</name><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J" last="Lees">Andrew J. Lees</name><name sortKey="Piccini, Paola" sort="Piccini, Paola" uniqKey="Piccini P" first="Paola" last="Piccini">Paola Piccini</name><name sortKey="Quinn, Niall P" sort="Quinn, Niall P" uniqKey="Quinn N" first="Niall P" last="Quinn">Niall P. Quinn</name><name sortKey="Scherfler, Christoph" sort="Scherfler, Christoph" uniqKey="Scherfler C" first="Christoph" last="Scherfler">Christoph Scherfler</name><name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W" last="Wood">Nicholas W. Wood</name></noCountry><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Pavese, Nicola" sort="Pavese, Nicola" uniqKey="Pavese N" first="Nicola" last="Pavese">Nicola Pavese</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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