ParkinsonCanadaV1, Main, Exploration, bibRecord, 000849

A Scan Without Evidence Is Not Evidence of Absence: Scans Without Evidence of Dopaminergic Deficit in a Symptomatic Leucine-Rich repeat Kinase 2 Mutation Carrier

Identifieur interne : 000849 ( Main/Exploration ); précédent : 000848; suivant : 000850

A Scan Without Evidence Is Not Evidence of Absence: Scans Without Evidence of Dopaminergic Deficit in a Symptomatic Leucine-Rich repeat Kinase 2 Mutation Carrier

Auteurs : Daryl J. Wile [Canada] ; Katie Dinelle [Canada] ; Nasim Vafai [Canada] ; Jessamyn Mckenzie [Canada] ; Joseph K. Tsui [Canada] ; Paul Schaffer [Canada] ; Yu-Shin Ding [États-Unis] ; Matthew Farrer [Canada] ; Vesna Sossi [Canada] ; A. Jon Stoessl [Canada]

Source :

Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2015.

RBID : PMC:4894497

English descriptors

KwdEn :
- Brain (metabolism), Brain (pathology), Dopamine (genetics), Dopamine (metabolism), Female, Heterozygote, Humans, Leucine (metabolism), Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 (genetics), Middle Aged, Mutation (genetics), Parkinson Disease (diagnosis), Parkinson Disease (genetics), Parkinson Disease (pathology), Positron-Emission Tomography (methods), Radionuclide Imaging.
MESH :
- chemical , genetics : Dopamine, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2.
- diagnosis : Parkinson Disease.
- genetics : Mutation, Parkinson Disease.
- metabolism : Brain, Dopamine, Leucine.
- methods : Positron-Emission Tomography.
- pathology : Brain, Parkinson Disease.
- Female, Heterozygote, Humans, Middle Aged, Radionuclide Imaging.

Abstract

Introduction

The basis for SWEDD is unclear, with most cases representing PD mimics but some later developing PD with a dopaminergic deficit.

Methods

We studied a patient initially diagnosed with SWEDD (based on ¹⁸F-dopa PET) who developed unequivocal PD associated with a leucine-rich repeat kinase 2 p.G2019S mutation. Repeat multitracer PET was performed at 17 years’ disease duration, including (+)[11C]dihydrotetrabenazine, [11C](N,N-dimethyl-2-(2-amino-4-cyanophenylthio) benzylamine (which binds the serotonin transporter), and ¹⁸F-dopa.

Results

The patient showed bilateral striatal dopaminergic denervation (right putamen 28% of age-matched normal, left putamen 33%). ¹⁸F-dopa uptake was decreased, particularly on the left (mean 31% of normal vs. 45% on the more affected right side). Serotonin transporter binding was relatively preserved in the putamen (right mean 90% of normal, left 81%) and several cortical regions.

Conclusions

SWEDD can occur in genetically determined PD and may, in some cases, be the result of compensatory nondopaminergic mechanisms operating in early disease.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4894497

DOI: 10.1002/mds.26450
PubMed: 26685774
PubMed Central: 4894497

Affiliations:

Le document en format XML

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<term>Dopamine (metabolism)</term>
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<term>Heterozygote</term>
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<front><div type="abstract" xml:lang="en"><sec id="S1"><title>Introduction</title>
<p id="P1">The basis for SWEDD is unclear, with most cases representing PD mimics but some later developing PD with a dopaminergic deficit.</p>
</sec>
<sec id="S2"><title>Methods</title>
<p id="P2">We studied a patient initially diagnosed with SWEDD (based on <sup>18</sup>
F-dopa PET) who developed unequivocal PD associated with a leucine-rich repeat kinase 2 p.G2019S mutation. Repeat multitracer PET was performed at 17 years’ disease duration, including (+)[11C]dihydrotetrabenazine, [11C](N,N-dimethyl-2-(2-amino-4-cyanophenylthio) benzylamine (which binds the serotonin transporter), and <sup>18</sup>
F-dopa.</p>
</sec>
<sec id="S3"><title>Results</title>
<p id="P3">The patient showed bilateral striatal dopaminergic denervation (right putamen 28% of age-matched normal, left putamen 33%). <sup>18</sup>
F-dopa uptake was decreased, particularly on the left (mean 31% of normal vs. 45% on the more affected right side). Serotonin transporter binding was relatively preserved in the putamen (right mean 90% of normal, left 81%) and several cortical regions.</p>
</sec>
<sec id="S4"><title>Conclusions</title>
<p id="P4">SWEDD can occur in genetically determined PD and may, in some cases, be the result of compensatory nondopaminergic mechanisms operating in early disease.</p>
</sec>
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La maladie de Parkinson au Canada (serveur d'exploration)

A Scan Without Evidence Is Not Evidence of Absence: Scans Without Evidence of Dopaminergic Deficit in a Symptomatic Leucine-Rich repeat Kinase 2 Mutation Carrier

A Scan Without Evidence Is Not Evidence of Absence: Scans Without Evidence of Dopaminergic Deficit in a Symptomatic Leucine-Rich repeat Kinase 2 Mutation Carrier

Source :

English descriptors

Abstract

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Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki

	La maladie de Parkinson au Canada (serveur d'exploration)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.