Striatal dopamine transporter binding in Parkinson's disease associated with the LRRK2 Gly2019Ser mutation
Identifieur interne : 004490 ( Main/Merge ); précédent : 004489; suivant : 004491Striatal dopamine transporter binding in Parkinson's disease associated with the LRRK2 Gly2019Ser mutation
Auteurs : Ioannis U. Isaias [Italie] ; Riccardo Benti [Italie] ; Stefano Goldwurm [Italie] ; Michela Zini [Italie] ; Roberto Cilia [Italie] ; Paolo Gerundini [Italie] ; Alessio Di Fonzo [Pays-Bas, Italie] ; Vincenzo Bonifati [Pays-Bas, Italie] ; Gianni Pezzoli [Italie] ; Angelo Antonini [Italie]Source :
- Movement Disorders [ 0885-3185 ] ; 2006-08.
English descriptors
- KwdEn :
- Amino Acid Substitution, Corpus Striatum (metabolism), Dopamine Plasma Membrane Transport Proteins (metabolism), Gly2019Ser mutation, Humans, LRRK2, Mutation, PARK8, Parkinson Disease (genetics), Parkinson Disease (metabolism), Polymorphism, Single Nucleotide, Protein-Serine-Threonine Kinases (genetics), [123I]ioflupane SPECT.
- MESH :
- chemical , genetics : Protein-Serine-Threonine Kinases.
- chemical , metabolism : Dopamine Plasma Membrane Transport Proteins.
- genetics : Parkinson Disease.
- metabolism : Corpus Striatum, Parkinson Disease.
- Amino Acid Substitution, Humans, Mutation, Polymorphism, Single Nucleotide.
Abstract
We measured striatal dopamine transporter binding using [123I]ioflupane and SPECT in patients with Parkinson's disease associated with the LRRK2 (PARK8) Gly2019Ser gene mutation (LRRK2‐PD) and in gene‐negative patients with idiopathic Parkinson's disease (IPD) of comparable disease duration and severity. The LRRK2‐PD group consisted of a total of 10 patients (3 sporadic) with mean age 62 ± 14 years, disease duration 9 ± 3 years, and UPDRS III motor score 21.60 ± 6.65. The control IPD group consisted of 15 patients with mean age 59 ± 9 years, disease duration 9 ± 5 years, and UPDRS III motor score 23.80 ± 8.69. [123I]ioflupane–specific uptake ratios were calculated for caudate nucleus and putamen using the occipital cortex as reference region. We found no differences between the LRRK2‐PD group and IPD in all items studied. In particular, putamen and caudate uptake values as well as side asymmetry indexes and putamen/caudate ratios all revealed comparable between‐group values. We conclude that in these patients carrying the LRRK2 Gly2019Ser mutation, the neurodegenerative process results in a pattern of nigrostriatal dopaminergic dysfunction similar to that observed in IPD. © 2006 Movement Disorder Society
Url:
DOI: 10.1002/mds.20909
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<term>Gly2019Ser mutation</term>
<term>Humans</term>
<term>LRRK2</term>
<term>Mutation</term>
<term>PARK8</term>
<term>Parkinson Disease (genetics)</term>
<term>Parkinson Disease (metabolism)</term>
<term>Polymorphism, Single Nucleotide</term>
<term>Protein-Serine-Threonine Kinases (genetics)</term>
<term>[123I]ioflupane SPECT</term>
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<term>Parkinson Disease</term>
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<front><div type="abstract" xml:lang="en">We measured striatal dopamine transporter binding using [123I]ioflupane and SPECT in patients with Parkinson's disease associated with the LRRK2 (PARK8) Gly2019Ser gene mutation (LRRK2‐PD) and in gene‐negative patients with idiopathic Parkinson's disease (IPD) of comparable disease duration and severity. The LRRK2‐PD group consisted of a total of 10 patients (3 sporadic) with mean age 62 ± 14 years, disease duration 9 ± 3 years, and UPDRS III motor score 21.60 ± 6.65. The control IPD group consisted of 15 patients with mean age 59 ± 9 years, disease duration 9 ± 5 years, and UPDRS III motor score 23.80 ± 8.69. [123I]ioflupane–specific uptake ratios were calculated for caudate nucleus and putamen using the occipital cortex as reference region. We found no differences between the LRRK2‐PD group and IPD in all items studied. In particular, putamen and caudate uptake values as well as side asymmetry indexes and putamen/caudate ratios all revealed comparable between‐group values. We conclude that in these patients carrying the LRRK2 Gly2019Ser mutation, the neurodegenerative process results in a pattern of nigrostriatal dopaminergic dysfunction similar to that observed in IPD. © 2006 Movement Disorder Society</div>
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<author><name sortKey="Bonifati, Vincenzo" sort="Bonifati, Vincenzo" uniqKey="Bonifati V" first="Vincenzo" last="Bonifati">Vincenzo Bonifati</name>
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<wicri:regionArea>Erasmus MC Rotterdam, Rotterdam</wicri:regionArea>
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<affiliation wicri:level="3"><country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Neurological Sciences, “La Sapienza” University, Rome</wicri:regionArea>
<placeName><settlement type="city">Rome</settlement>
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</affiliation>
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<author><name sortKey="Pezzoli, Gianni" sort="Pezzoli, Gianni" uniqKey="Pezzoli G" first="Gianni" last="Pezzoli">Gianni Pezzoli</name>
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<placeName><settlement type="city">Milan</settlement>
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</placeName>
</affiliation>
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<author><name sortKey="Antonini, Angelo" sort="Antonini, Angelo" uniqKey="Antonini A" first="Angelo" last="Antonini">Angelo Antonini</name>
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<wicri:regionArea>Centro Parkinson, Istituti Clinici di Perfezionamento, Milan</wicri:regionArea>
<placeName><settlement type="city">Milan</settlement>
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<series><title level="j">Movement Disorders</title>
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<front><div type="abstract" xml:lang="en">We measured striatal dopamine transporter binding using [123I]ioflupane and SPECT in patients with Parkinson's disease associated with the LRRK2 (PARK8) Gly2019Ser gene mutation (LRRK2‐PD) and in gene‐negative patients with idiopathic Parkinson's disease (IPD) of comparable disease duration and severity. The LRRK2‐PD group consisted of a total of 10 patients (3 sporadic) with mean age 62 ± 14 years, disease duration 9 ± 3 years, and UPDRS III motor score 21.60 ± 6.65. The control IPD group consisted of 15 patients with mean age 59 ± 9 years, disease duration 9 ± 5 years, and UPDRS III motor score 23.80 ± 8.69. [123I]ioflupane–specific uptake ratios were calculated for caudate nucleus and putamen using the occipital cortex as reference region. We found no differences between the LRRK2‐PD group and IPD in all items studied. In particular, putamen and caudate uptake values as well as side asymmetry indexes and putamen/caudate ratios all revealed comparable between‐group values. We conclude that in these patients carrying the LRRK2 Gly2019Ser mutation, the neurodegenerative process results in a pattern of nigrostriatal dopaminergic dysfunction similar to that observed in IPD. © 2006 Movement Disorder Society</div>
</front>
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<author><name sortKey="Benti, Riccardo" sort="Benti, Riccardo" uniqKey="Benti R" first="Riccardo" last="Benti">Riccardo Benti</name>
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<author><name sortKey="Goldwurm, Stefano" sort="Goldwurm, Stefano" uniqKey="Goldwurm S" first="Stefano" last="Goldwurm">Stefano Goldwurm</name>
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<author><name sortKey="Zini, Michela" sort="Zini, Michela" uniqKey="Zini M" first="Michela" last="Zini">Michela Zini</name>
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<author><name sortKey="Cilia, Roberto" sort="Cilia, Roberto" uniqKey="Cilia R" first="Roberto" last="Cilia">Roberto Cilia</name>
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<author><name sortKey="Gerundini, Paolo" sort="Gerundini, Paolo" uniqKey="Gerundini P" first="Paolo" last="Gerundini">Paolo Gerundini</name>
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<author><name sortKey="Di Fonzo, Alessio" sort="Di Fonzo, Alessio" uniqKey="Di Fonzo A" first="Alessio" last="Di Fonzo">Alessio Di Fonzo</name>
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<author><name sortKey="Bonifati, Vincenzo" sort="Bonifati, Vincenzo" uniqKey="Bonifati V" first="Vincenzo" last="Bonifati">Vincenzo Bonifati</name>
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<author><name sortKey="Pezzoli, Gianni" sort="Pezzoli, Gianni" uniqKey="Pezzoli G" first="Gianni" last="Pezzoli">Gianni Pezzoli</name>
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<author><name sortKey="Isaias, Ioannis U" sort="Isaias, Ioannis U" uniqKey="Isaias I" first="Ioannis U" last="Isaias">Ioannis U. Isaias</name>
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<country xml:lang="fr">Italie</country>
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<author><name sortKey="Benti, Riccardo" sort="Benti, Riccardo" uniqKey="Benti R" first="Riccardo" last="Benti">Riccardo Benti</name>
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<author><name sortKey="Goldwurm, Stefano" sort="Goldwurm, Stefano" uniqKey="Goldwurm S" first="Stefano" last="Goldwurm">Stefano Goldwurm</name>
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<author><name sortKey="Zini, Michela" sort="Zini, Michela" uniqKey="Zini M" first="Michela" last="Zini">Michela Zini</name>
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<author><name sortKey="Cilia, Roberto" sort="Cilia, Roberto" uniqKey="Cilia R" first="Roberto" last="Cilia">Roberto Cilia</name>
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<author><name sortKey="Gerundini, Paolo" sort="Gerundini, Paolo" uniqKey="Gerundini P" first="Paolo" last="Gerundini">Paolo Gerundini</name>
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<author><name sortKey="Di Fonzo, Alessio" sort="Di Fonzo, Alessio" uniqKey="Di Fonzo A" first="Alessio" last="Di Fonzo">Alessio Di Fonzo</name>
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<author><name sortKey="Bonifati, Vincenzo" sort="Bonifati, Vincenzo" uniqKey="Bonifati V" first="Vincenzo" last="Bonifati">Vincenzo Bonifati</name>
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<author><name sortKey="Pezzoli, Gianni" sort="Pezzoli, Gianni" uniqKey="Pezzoli G" first="Gianni" last="Pezzoli">Gianni Pezzoli</name>
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<author><name sortKey="Antonini, Angelo" sort="Antonini, Angelo" uniqKey="Antonini A" first="Angelo" last="Antonini">Angelo Antonini</name>
</author>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
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<term>Corpus Striatum (metabolism)</term>
<term>Dopamine Plasma Membrane Transport Proteins (metabolism)</term>
<term>Humans</term>
<term>Mutation</term>
<term>Parkinson Disease (genetics)</term>
<term>Parkinson Disease (metabolism)</term>
<term>Polymorphism, Single Nucleotide</term>
<term>Protein-Serine-Threonine Kinases (genetics)</term>
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<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Protein-Serine-Threonine Kinases</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Corpus Striatum</term>
<term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Amino Acid Substitution</term>
<term>Humans</term>
<term>Mutation</term>
<term>Polymorphism, Single Nucleotide</term>
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<front><div type="abstract" xml:lang="en">We measured striatal dopamine transporter binding using [(123)I]ioflupane and SPECT in patients with Parkinson's disease associated with the LRRK2 (PARK8) Gly2019Ser gene mutation (LRRK2-PD) and in gene-negative patients with idiopathic Parkinson's disease (IPD) of comparable disease duration and severity. The LRRK2-PD group consisted of a total of 10 patients (3 sporadic) with mean age 62 +/- 14 years, disease duration 9 +/- 3 years, and UPDRS III motor score 21.60 +/- 6.65. The control IPD group consisted of 15 patients with mean age 59 +/- 9 years, disease duration 9 +/- 5 years, and UPDRS III motor score 23.80 +/- 8.69. [(123)I]ioflupane-specific uptake ratios were calculated for caudate nucleus and putamen using the occipital cortex as reference region. We found no differences between the LRRK2-PD group and IPD in all items studied. In particular, putamen and caudate uptake values as well as side asymmetry indexes and putamen/caudate ratios all revealed comparable between-group values. We conclude that in these patients carrying the LRRK2 Gly2019Ser mutation, the neurodegenerative process results in a pattern of nigrostriatal dopaminergic dysfunction similar to that observed in IPD.</div>
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