Objectives:To compare the dopaminergic neuronal imaging features of different subtypes of genetic Parkinson's Disease.Methods:A retrospective study of genetic Parkinson's diseases cases in which DaTSCAN (123I-FP-CIT) had been performed. Specific non-displaceable binding was calculated for bilateral caudate and putamen for each case. The right:left asymmetry index and striatal asymmetry index was calculated.Results:Scans were available from 37 cases of monogenetic Parkinson's disease (7 glucocerebrosidase (GBA) mutations, 8 alpha-synuclein, 3 LRRK2, 7 PINK1, 12 Parkin). The asymmetry of radioligand uptake for Parkinson's disease with GBA or LRRK2 mutations was greater than that for Parkinson's disease with alpha synuclein, PINK1 or Parkin mutations.Conclusions:The asymmetry of radioligand uptake in Parkinsons disease associated with GBA or LRRK2 mutations suggests that interactions with additional genetic or environmental factors may be associated with dopaminergic neuronal loss.

dx.doi.org/10.1371/journal.pone.0069190, hdl.handle.net/1765/61295
Department of Clinical Genetics

McNeill, A, Wu, R-M, Tzen, K.-Y, Aguiar, P.C, Arbelo, J.M, Barone, P, … Schapira, A.H.V. (2013). Dopaminergic Neuronal Imaging in Genetic Parkinson's Disease: Insights into Pathogenesis. PLoS ONE, 8(7). doi:10.1371/journal.pone.0069190