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. Issue 3 (21st December 2015)

• Record Type: Journal Article
• Authors: Wile, Daryl J.; Dinelle, Katie; Vafai, Nasim; McKenzie, Jessamyn; Tsui, Joseph K.; Schaffer, Paul; Ding, Yu‐Shin; Farrer, Matthew; Sossi, Vesna; Stoessl, A. Jon
• Is Part Of: Movement disorders. Volume 31:Issue 3(2016)
• Page Start: 405
• Page End: 409
• Publication Date: 2015-12-21
• Subjects: SWEDD -- LRRK2 -- Parkinson's disease; Movement disorders -- Periodicals; 610
• DOI: 10.1002/mds.26450
• Languages: English
• ISSNs: 0885-3185

Abstract

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 18 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 18 F‐dopa. Results: The patient showed bilateral striatal dopaminergic denervation (right putamen 28% of age‐matched normal, left putamen 33%). 18 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. Conclusions: SWEDD can occur in genetically determined PD and may, in some cases, be the result of compensatory nondopaminergic mechanisms operating in early disease. © 2015 International Parkinson and Movement Disorder Society