Literature DB >> 26685774

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.

Daryl J Wile1, Katie Dinelle1, Nasim Vafai1, Jessamyn McKenzie1, Joseph K Tsui1, Paul Schaffer2, Yu-Shin Ding3, Matthew Farrer1, Vesna Sossi1, A Jon Stoessl1.   

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.

Entities:  

Keywords:  LRRK2; Parkinson's disease; SWEDD

Mesh:

Substances:

Year:  2015        PMID: 26685774      PMCID: PMC4894497          DOI: 10.1002/mds.26450

Source DB:  PubMed          Journal:  Mov Disord        ISSN: 0885-3185            Impact factor:   10.338


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