ParkinsonCanadaV1, Main, Exploration, bibRecord, 003810

PET studies of parkinsonism associated with mutation in the α-synuclein gene

Identifieur interne : 003810 ( Main/Exploration ); précédent : 003809; suivant : 003811

PET studies of parkinsonism associated with mutation in the α-synuclein gene

Auteurs : A. Samii [Canada] ; K. Markopoulou [États-Unis] ; Z. K. Wszolek [États-Unis] ; V. Sossi [Canada] ; T. Dobko [Canada] ; E. Mak [Canada] ; D. B. Calne [Canada] ; A. J. Stoessl [Canada]

Source :

Neurology [ 0028-3878 ] ; 1999.

RBID : Pascal:00-0044690

Descripteurs français

Pascal (Inist)
- Parkinson maladie, Tomoscintigraphie, Positon, Raclopride, Mutation, Gène, Encéphale, Etude familiale, Exploration, Homme, Fluorodopa(18F), Synucléine α.
Wicri :
- topic : Homme.

English descriptors

KwdEn :
- Adult, Antiparkinson Agents (administration & dosage), Antiparkinson Agents (adverse effects), Brain (vertebrata), Brain Mapping, Caudate Nucleus (diagnostic imaging), Chromosome Aberrations (genetics), Chromosome Disorders, Emission tomography, Exploration, Family study, Female, Fluorodopa(18F), Gene, Gene Expression (physiology), Genes, Dominant (genetics), Greece (ethnology), Human, Humans, Levodopa (administration & dosage), Levodopa (adverse effects), Male, Middle Aged, Mutation, Mutation (genetics), Nerve Tissue Proteins (genetics), Parkinson Disease (diagnostic imaging), Parkinson Disease (drug therapy), Parkinson Disease (genetics), Parkinson disease, Pedigree, Phosphoproteins (genetics), Positron, Putamen (diagnostic imaging), Raclopride, Receptors, Dopamine (genetics), Synucleins, Tomography, Emission-Computed, United States, alpha-Synuclein.
MESH :
- chemical , administration & dosage : Antiparkinson Agents, Levodopa.
- chemical , adverse effects : Antiparkinson Agents, Levodopa.
- diagnostic imaging : Caudate Nucleus, Parkinson Disease, Putamen.
- drug therapy : Parkinson Disease.
- ethnology : Greece.
- genetics : Chromosome Aberrations, Genes, Dominant, Mutation, Nerve Tissue Proteins, Parkinson Disease, Phosphoproteins, Receptors, Dopamine.
- physiology : Gene Expression.
- Adult, Brain Mapping, Chromosome Disorders, Female, Humans, Male, Middle Aged, Pedigree, Synucleins, Tomography, Emission-Computed, United States, alpha-Synuclein.

Abstract

Article abstract-Objective: To assess the pattern of dopaminergic abnormalities in a Greek-American kindred (family H) with autosomal dominantly inherited, levodopa-responsive parkinsonism caused by a mutation of the gene encoding α-synuclein. Background: Mutations of α-synuclein have been associated recently with dominantly inherited, levodopa-responsive parkinsonism. The pattern of dopamine deficiency and status of postsynaptic dopamine receptors in this condition have not been reported previously. The authors followed a large, six-generation family in whom the affected members carry the recently reported G209A mutation in the gene encoding α-synuclein. Methods: The authors studied four affected and two clinically unaffected gene-negative members of family H using [¹⁸F]-6-fluoro-L-dopa (FD) and [¹¹C]-raclopride (RAC) PET to assess presynaptic dopaminergic function and dopamine D2 receptors. The results were compared with normal subjects and patients with sporadic, idiopathic PD (IP). Results: In affected individuals, FD uptake was reduced in both the caudate and the putamen, but the putamen was affected more severely than the caudate, as seen in IP. RAC binding was within the normal range, but the ratio of RAC binding in the putamen to that in the caudate was increased in affected members of family H. This pattern is similar to that seen in IP. Conclusions: PET of the nigrostriatal system in parkinsonism associated with a mutation in the α-synuclein gene indicates that it results in a pattern of dopamine deficiency, with preserved D2 binding, indistinguishable from IP.

Affiliations:

Canada, États-Unis

Le document en format XML

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<term>Brain Mapping</term>
<term>Caudate Nucleus (diagnostic imaging)</term>
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<term>Mutation (genetics)</term>
<term>Nerve Tissue Proteins (genetics)</term>
<term>Parkinson Disease (diagnostic imaging)</term>
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<term>Parkinson Disease (genetics)</term>
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<term>Phosphoproteins (genetics)</term>
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<term>Receptors, Dopamine (genetics)</term>
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<term>Tomography, Emission-Computed</term>
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<term>Parkinson Disease</term>
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<term>Receptors, Dopamine</term>
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<term>Chromosome Disorders</term>
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<front><div type="abstract" xml:lang="en">Article abstract-Objective: To assess the pattern of dopaminergic abnormalities in a Greek-American kindred (family H) with autosomal dominantly inherited, levodopa-responsive parkinsonism caused by a mutation of the gene encoding α-synuclein. Background: Mutations of α-synuclein have been associated recently with dominantly inherited, levodopa-responsive parkinsonism. The pattern of dopamine deficiency and status of postsynaptic dopamine receptors in this condition have not been reported previously. The authors followed a large, six-generation family in whom the affected members carry the recently reported G209A mutation in the gene encoding α-synuclein. Methods: The authors studied four affected and two clinically unaffected gene-negative members of family H using [<sup>18</sup>
F]-6-fluoro-L-dopa (FD) and [<sup>11</sup>
C]-raclopride (RAC) PET to assess presynaptic dopaminergic function and dopamine D2 receptors. The results were compared with normal subjects and patients with sporadic, idiopathic PD (IP). Results: In affected individuals, FD uptake was reduced in both the caudate and the putamen, but the putamen was affected more severely than the caudate, as seen in IP. RAC binding was within the normal range, but the ratio of RAC binding in the putamen to that in the caudate was increased in affected members of family H. This pattern is similar to that seen in IP. Conclusions: PET of the nigrostriatal system in parkinsonism associated with a mutation in the α-synuclein gene indicates that it results in a pattern of dopamine deficiency, with preserved D2 binding, indistinguishable from IP.</div>
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La maladie de Parkinson au Canada (serveur d'exploration)

PET studies of parkinsonism associated with mutation in the α-synuclein gene

PET studies of parkinsonism associated with mutation in the α-synuclein gene

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	La maladie de Parkinson au Canada (serveur d'exploration)
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