Dopaminergic neuronal imaging in genetic Parkinson's disease: insights into pathogenesis.
OBJECTIVE
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.
Department of Clinical Neurosciences, Institute of Neurology, University College London, London, United Kingdom.
Alisdair
A
McNeill
Ruey-Meei
RM
Wu
Kai-Yuan
KY
Tzen
Patricia C
PC
Aguiar
Jose M
JM
Arbelo
Paolo
P
Barone
Kailash
K
Bhatia
Orlando
O
Barsottini
Vincenzo
V
Bonifati
Sevasti
S
Bostantjopoulou
Rodrigo
R
Bressan
Giovanni
G
Cossu
Pietro
P
Cortelli
Andre
A
Felicio
Henrique B
HB
Ferraz
Joanna
J
Herrera
Henry
H
Houlden
Marcelo
M
Hoexter
Concepcion
C
Isla
Andrew
A
Lees
Oswaldo
O
Lorenzo-Betancor
Niccolo E
NE
Mencacci
Pau
P
Pastor
Sabina
S
Pappata
Maria Teresa
MT
Pellecchia
Laura
L
Silveria-Moriyama
Andrea
A
Varrone
Tom
T
Foltynie
Anthony H V
AH
Schapira
D000328:Adult; D002421:Caudate Nucleus / Q000473:pathology; D015331:Cohort Studies; D003710:Demography; D050483:Dopamine Plasma Membrane Transport Proteins / Q000378:metabolism; D059290:Dopaminergic Neurons / Q000473:pathology*; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D059906:Neuroimaging; D010300:Parkinson Disease / Q000235:genetics* / Q000473:pathology*; D049268:Positron-Emission Tomography; D011699:Putamen / Q000473:pathology; D015899:Tomography, Emission-Computed, Single-Photon
D050483:Dopamine Plasma Membrane Transport Proteins