Dopaminergic Neuronal Imaging in Genetic Parkinson's Disease: Insights into Pathogenesis

A McNeill; RM Wu; KY Tzen; PC Aguiar; JM Arbelo; P Barone; K Bhatia; O Barsottini; Vincenzo Bonifati; S Bostantjopoulou; R Bressan; G Cossu; P Cortelli; A Felicio; HB Ferraz; J Herrera; H Houlden; M Hoexter; C Isla; A Lees; O Lorenzo-Betancor; NE Mencacci; P Pastor; S Pappata; MT Pellecchia; L Silveria-Moriyama; A Varrone; T Foltynie; AHV Schapira

doi:10.1371/journal.pone.0069190

Dopaminergic Neuronal Imaging in Genetic Parkinson's Disease: Insights into Pathogenesis

A McNeill
, RM Wu
, KY Tzen
, PC Aguiar
, JM Arbelo
, P Barone
, K Bhatia
, O Barsottini
, Vincenzo Bonifati
, S Bostantjopoulou
, R Bressan
, G Cossu
, P Cortelli
, A Felicio
, HB Ferraz
, J Herrera
, H Houlden
, M Hoexter
, C Isla
, A Lees

O Lorenzo-Betancor, NE Mencacci, P Pastor, S Pappata, MT Pellecchia, L Silveria-Moriyama, A Varrone, T Foltynie, AHV Schapira

Clinical Genetics

Research output: Contribution to journal › Article › Academic › peer-review

65 Citations (Scopus)

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Abstract

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.

Original language	Undefined/Unknown
Journal	PLoS One (print)
Volume	8
Issue number	7
DOIs	https://doi.org/10.1371/journal.pone.0069190
Publication status	Published - 2013

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EMC MGC-02-96-01

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Cite this

McNeill, A., Wu, RM., Tzen, KY., Aguiar, PC., Arbelo, JM., Barone, P., Bhatia, K., Barsottini, O., Bonifati, V., Bostantjopoulou, S., Bressan, R., Cossu, G., Cortelli, P., Felicio, A., Ferraz, HB., Herrera, J., Houlden, H., Hoexter, M., Isla, C., ... Schapira, AHV. (2013). Dopaminergic Neuronal Imaging in Genetic Parkinson's Disease: Insights into Pathogenesis. PLoS One (print), 8(7). https://doi.org/10.1371/journal.pone.0069190

@article{1f9791d9d1544819bff984ac0ea1d8cf,

title = "Dopaminergic Neuronal Imaging in Genetic Parkinson's Disease: Insights into Pathogenesis",

abstract = "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.",

author = "A McNeill and RM Wu and KY Tzen and PC Aguiar and JM Arbelo and P Barone and K Bhatia and O Barsottini and Vincenzo Bonifati and S Bostantjopoulou and R Bressan and G Cossu and P Cortelli and A Felicio and HB Ferraz and J Herrera and H Houlden and M Hoexter and C Isla and A Lees and O Lorenzo-Betancor and NE Mencacci and P Pastor and S Pappata and MT Pellecchia and L Silveria-Moriyama and A Varrone and T Foltynie and AHV Schapira",

year = "2013",

doi = "10.1371/journal.pone.0069190",

language = "Undefined/Unknown",

volume = "8",

journal = "PLoS One (print)",

issn = "1932-6203",

publisher = "Public Library of Science",

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McNeill, A, Wu, RM, Tzen, KY, Aguiar, PC, Arbelo, JM, Barone, P, Bhatia, K, Barsottini, O, Bonifati, V, Bostantjopoulou, S, Bressan, R, Cossu, G, Cortelli, P, Felicio, A, Ferraz, HB, Herrera, J, Houlden, H, Hoexter, M, Isla, C, Lees, A, Lorenzo-Betancor, O, Mencacci, NE, Pastor, P, Pappata, S, Pellecchia, MT, Silveria-Moriyama, L, Varrone, A, Foltynie, T & Schapira, AHV 2013, 'Dopaminergic Neuronal Imaging in Genetic Parkinson's Disease: Insights into Pathogenesis', PLoS One (print), vol. 8, no. 7. https://doi.org/10.1371/journal.pone.0069190

TY - JOUR

T1 - Dopaminergic Neuronal Imaging in Genetic Parkinson's Disease: Insights into Pathogenesis

AU - McNeill, A

AU - Wu, RM

AU - Tzen, KY

AU - Aguiar, PC

AU - Arbelo, JM

AU - Barone, P

AU - Bhatia, K

AU - Barsottini, O

AU - Bonifati, Vincenzo

AU - Bostantjopoulou, S

AU - Bressan, R

AU - Cossu, G

AU - Cortelli, P

AU - Felicio, A

AU - Ferraz, HB

AU - Herrera, J

AU - Houlden, H

AU - Hoexter, M

AU - Isla, C

AU - Lees, A

AU - Lorenzo-Betancor, O

AU - Mencacci, NE

AU - Pastor, P

AU - Pappata, S

AU - Pellecchia, MT

AU - Silveria-Moriyama, L

AU - Varrone, A

AU - Foltynie, T

AU - Schapira, AHV

PY - 2013

Y1 - 2013

N2 - 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.

AB - 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.

U2 - 10.1371/journal.pone.0069190

DO - 10.1371/journal.pone.0069190

M3 - Article

C2 - 23935950

SN - 1932-6203

VL - 8

JO - PLoS One (print)

JF - PLoS One (print)

IS - 7

ER -