MovDisordV3, Main, Exploration, bibRecord, 000689

In vivo dopaminergic and serotonergic dysfunction in DCTN1 gene mutation carriers

Identifieur interne : 000689 ( Main/Exploration ); précédent : 000688; suivant : 000690

In vivo dopaminergic and serotonergic dysfunction in DCTN1 gene mutation carriers

Auteurs : Andre C. Felicio [Canada] ; Katherine Dinelle [Canada] ; Pankaj A. Agarwal [Canada] ; Jessamyn Mckenzie [Canada] ; Nicole Heffernan [Canada] ; Jeremy D. Road [Canada] ; Silke Appel-Cresswell [Canada] ; Zbigniew K. Wszolek [États-Unis] ; Matthew J. Farrer [Canada] ; Michael Schulzer [Canada] ; Vesna Sossi [Canada] ; A. Jon Stoessl [Canada]

Source :

Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2014.

RBID : PMC:4139463

English descriptors

KwdEn :
- Adult, Aniline Compounds (diagnostic use), Corpus Striatum (radionuclide imaging), Depression (genetics), Depression (radionuclide imaging), Dopamine (metabolism), Fluorine Radioisotopes (diagnostic use), Humans, Hypoventilation (genetics), Hypoventilation (radionuclide imaging), Microtubule-Associated Proteins (genetics), Middle Aged, Mutation (genetics), Parkinsonian Disorders (genetics), Parkinsonian Disorders (radionuclide imaging), Positron-Emission Tomography, Raclopride (diagnostic use), Serotonin (administration & dosage), Sulfides (diagnostic use), Tetrabenazine (analogs & derivatives), Tetrabenazine (diagnostic use), Tomography, Emission-Computed.
MESH :
- chemical , administration & dosage : Serotonin.
- chemical , analogs & derivatives : Tetrabenazine.
- chemical , diagnostic use : Aniline Compounds, Fluorine Radioisotopes, Raclopride, Sulfides, Tetrabenazine.
- genetics : Depression, Hypoventilation, Microtubule-Associated Proteins, Mutation, Parkinsonian Disorders.
- chemical , metabolism : Dopamine.
- radionuclide imaging : Corpus Striatum, Depression, Hypoventilation, Parkinsonian Disorders.
- Adult, Humans, Middle Aged, Positron-Emission Tomography, Tomography, Emission-Computed.

Abstract

Introduction

We have used positron emission tomography (PET) to assess dopaminergic and serotonergic terminal density in three subjects carrying a mutation in the DCT1 gene, two clinically affected with Perry syndrome.

Methods

All subjects had brain imaging using 18F-6-fluoro-L-dopa (FDOPA, dopamine synthesis and storage), (+)-11C-dihydrotetrabenazine (DTBZ, vesicular monoamine transporter type 2), and 11C-raclopride (RAC, dopamine D2/D3 receptors). One subject also underwent PET with 11C-3-amino-4-(2-dimethylaminomethyl-phenylsulfanyl)-benzonitrile (DASB, serotonin transporter).

Results

FDOPA-PET and DTBZ-PET in the affected individuals showed a reduction of striatal tracer uptake. Also, RAC-PET showed higher uptake in these area. DASB-PET showed significant uptake changes in left orbitofrontal cortex, bilateral anterior insula, left dorsolateral prefrontal cortex, left orbitofrontal cortex, left posterior cingulate cortex, left caudate and left ventral striatum.

Conclusions

Our data showed evidence of both striatal dopaminergic and widespread cortical/subcortical serotonergic dysfunctions in individuals carrying a mutation in the DCTN1 gene.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4139463

DOI: 10.1002/mds.25893
PubMed: 24797316
PubMed Central: 4139463

Affiliations:

Le document en format XML

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 dopaminergic and serotonergic dysfunction in <italic>DCTN1</italic>
 gene mutation carriers</title>
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 dopaminergic and serotonergic dysfunction in <italic>DCTN1</italic>
 gene mutation carriers</title>
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<term>Depression (radionuclide imaging)</term>
<term>Dopamine (metabolism)</term>
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<term>Sulfides (diagnostic use)</term>
<term>Tetrabenazine (analogs & derivatives)</term>
<term>Tetrabenazine (diagnostic use)</term>
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<term>Hypoventilation</term>
<term>Microtubule-Associated Proteins</term>
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<front><div type="abstract" xml:lang="en"><sec id="S1"><title>Introduction</title>
<p id="P1">We have used positron emission tomography (PET) to assess dopaminergic and serotonergic terminal density in three subjects carrying a mutation in the DCT1 gene, two clinically affected with Perry syndrome.</p>
</sec>
<sec id="S2"><title>Methods</title>
<p id="P2">All subjects had brain imaging using 18F-6-fluoro-L-dopa (FDOPA, dopamine synthesis and storage), (+)-11C-dihydrotetrabenazine (DTBZ, vesicular monoamine transporter type 2), and 11C-raclopride (RAC, dopamine D2/D3 receptors). One subject also underwent PET with 11C-3-amino-4-(2-dimethylaminomethyl-phenylsulfanyl)-benzonitrile (DASB, serotonin transporter).</p>
</sec>
<sec id="S3"><title>Results</title>
<p id="P3">FDOPA-PET and DTBZ-PET in the affected individuals showed a reduction of striatal tracer uptake. Also, RAC-PET showed higher uptake in these area. DASB-PET showed significant uptake changes in left orbitofrontal cortex, bilateral anterior insula, left dorsolateral prefrontal cortex, left orbitofrontal cortex, left posterior cingulate cortex, left caudate and left ventral striatum.</p>
</sec>
<sec id="S4"><title>Conclusions</title>
<p id="P4">Our data showed evidence of both striatal dopaminergic and widespread cortical/subcortical serotonergic dysfunctions in individuals carrying a mutation in the <italic>DCTN1</italic>
 gene.</p>
</sec>
</div>
</front>
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   |wiki=    Wicri/Santé
   |area=    MovDisordV3
   |flux=    Main
   |étape=   Exploration
   |type=    RBID
   |clé=     PMC:4139463
   |texte=   In vivo dopaminergic and serotonergic dysfunction in DCTN1 gene mutation carriers
}}

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Movement Disorders (revue)

In vivo dopaminergic and serotonergic dysfunction in DCTN1 gene mutation carriers

In vivo dopaminergic and serotonergic dysfunction in DCTN1 gene mutation carriers

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	Movement Disorders (revue)
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