Funding agencies: This study was supported by NIH/NINDS grant P50 NS072187, Mayo Clinic Florida Research Committee, and the gift from Carl Edward Bolch, Jr., and Susan Bass Bolch.
In vivo dopaminergic and serotonergic dysfunction in DCTN1 gene mutation carriers
Article first published online: 5 MAY 2014
© 2014 International Parkinson and Movement Disorder Society
Volume 29, Issue 9, pages 1197–1201, August 2014
How to Cite
Felicio, A. C., Dinelle, K., Agarwal, P. A., McKenzie, J., Heffernan, N., Road, J. D., Appel-Cresswell, S., Wszolek, Z. K., Farrer, M. J., Schulzer, M., Sossi, V. and Stoessl, A. J. (2014), In vivo dopaminergic and serotonergic dysfunction in DCTN1 gene mutation carriers. Mov. Disord., 29: 1197–1201. doi: 10.1002/mds.25893
Relevant conflicts of interest/financial disclosures: Nothing to report.
Full financial disclosures and author roles may be found in the online version of this article.
- Issue published online: 18 AUG 2014
- Article first published online: 5 MAY 2014
- Manuscript Accepted: 25 MAR 2014
- Manuscript Revised: 10 MAR 2014
- Manuscript Received: 1 NOV 2013
- Perry syndrome;
- dynactin gene;
- positron emission tomography;
- dopaminergic dysfunction;
- serotonergic dysfunction
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.
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).
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.
Our data showed evidence of both striatal dopaminergic and widespread cortical/subcortical serotonergic dysfunctions in individuals carrying a mutation in the DCTN1 gene. © 2014 International Parkinson and Movement Disorder Society