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DCTN1基因突变携带者的体内多巴胺能和5-羟色胺能功能障碍。

In vivo dopaminergic and serotonergic dysfunction in DCTN1 gene mutation carriers.

作者信息

Felicio Andre C, Dinelle Katherine, Agarwal Pankaj A, McKenzie Jessamyn, Heffernan Nicole, Road Jeremy D, Appel-Cresswell Silke, Wszolek Zbigniew K, Farrer Matthew J, Schulzer Michael, Sossi Vesna, Stoessl A Jon

机构信息

Pacific Parkinson's Research Centre, University of British Columbia, Vancouver, BC, Canada.

出版信息

Mov Disord. 2014 Aug;29(9):1197-201. doi: 10.1002/mds.25893. Epub 2014 May 5.

DOI:10.1002/mds.25893
PMID:24797316
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4139463/
Abstract

INTRODUCTION

We 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.

摘要

引言

我们使用正电子发射断层扫描（PET）来评估三名携带DCT1基因突变的受试者以及两名患有佩里综合征的临床患者的多巴胺能和5-羟色胺能终末密度。

方法

所有受试者均接受了使用18F-6-氟-L-多巴（FDOPA，多巴胺合成与储存）、（+）-11C-二氢四苯嗪（DTBZ，2型囊泡单胺转运体）和11C-雷氯必利（RAC，多巴胺D2/D3受体）的脑部成像。一名受试者还接受了使用11C-3-氨基-4-（2-二甲基氨基甲基-苯基硫基）-苄腈（DASB，5-羟色胺转运体）的PET检查。

结果

受影响个体的FDOPA-PET和DTBZ-PET显示纹状体示踪剂摄取减少。此外，RAC-PET显示这些区域摄取较高。DASB-PET显示左侧眶额皮质、双侧前岛叶、左侧背外侧前额叶皮质、左侧眶额皮质、左侧后扣带回皮质、左侧尾状核和左侧腹侧纹状体有明显的摄取变化。

结论

我们的数据显示，携带DCTN1基因突变的个体存在纹状体多巴胺能和广泛的皮质/皮质下5-羟色胺能功能障碍的证据。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eaa1/4139463/b38b74b8f5f9/nihms583602f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eaa1/4139463/f10cad1a3bd7/nihms583602f1a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eaa1/4139463/b38b74b8f5f9/nihms583602f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eaa1/4139463/f10cad1a3bd7/nihms583602f1a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eaa1/4139463/b38b74b8f5f9/nihms583602f2.jpg

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