Clinical and Dopamine Transporter Imaging Characteristics of Leucine Rich Repeat Kinase 2 (LRRK2) and Glucosylceramidase Beta (GBA) Parkinson's Disease Participants in the Parkinson's Progression Markers Initiative: A Cross‐Sectional Study - Sorbonne Université Access content directly
Journal Articles Movement Disorders Year : 2020

Clinical and Dopamine Transporter Imaging Characteristics of Leucine Rich Repeat Kinase 2 (LRRK2) and Glucosylceramidase Beta (GBA) Parkinson's Disease Participants in the Parkinson's Progression Markers Initiative: A Cross‐Sectional Study

Tanya Simuni , Michael C Brumm , Liz Uribe , Chelsea Caspell‐garcia , Christopher S Coffey , Andrew Siderowf , Roy N Alcalay , John Q Trojanowski , Leslie M Shaw , John Seibyl , Andrew Singleton , Arthur W Toga , Doug Galasko , Tatiana Foroud , Kelly Nudelman , Duygu Tosun‐turgut , Kathleen Poston , Daniel Weintraub , Brit Mollenhauer , Caroline M Tanner , Karl Kieburtz , Lana M Chahine , Alyssa Reimer , Samantha Hutten , Susan Bressman , Kenneth Marek , Andrew Siderowf , John Seibyl , Christopher Coffey , Caroline Tanner , Duygu Tosun-Turgut , Tanya Simuni , Leslie M. Shaw , John Q. Trojanowski , Andrew Singleton , Karl Kieburtz , Arthur Toga , Brit Mollenhauer , Douglas Galasko , Lana M. Chahine , Werner Poewe , Tatiana Foroud , Kathleen Poston , Susan Bressman , Alyssa Reimer , Vanessa Arnedo , Adrienne Clark , Mark Frasier , Catherine Kopil , Sohini Chowdhury , Todd Sherer , Kenneth Marek , Nichole Daegele , Cynthia Casaceli , Renee Wilson , John Seibyl , Christina Salerno , Christopher Coffey , Chelsea Caspell-Garcia Arthur Toga , Karen Crawford , Tatiana Foroud , Paola Casalin , Giulia Malferrari , Mali Gani Weisz , Avi Orr-Urtreger , John Trojanowski , Leslie Shaw , Andrew Singleton , Tatiana Foroud , Tatiana Foroud , Thomas Montine , Tatiana Foroud , Chris Baglieri , Amanda Christini , David Russell , Caroline Tanner , Tanya Simuni , Nabila Dahodwala , Brit Mollenhauer , Douglas Galasko , Werner Poewe , Nir Giladi , Penelope Hogarth , David Standaert , Robert Hauser , Joseph Jankovic , Marie Saint-Hilaire , Irene Richard , David Shprecher , Hubert Fernandez , Katrina Brockmann , Liana Rosenthal , Paolo Barone , Alberto Espay , Dominic Rowe , Karen Marder , Anthony Santiago , Susan Bressman , Shu-Ching Hu , Stuart Isaacson , Jean-Christophe Corvol (1) , Javiar Ruiz Martinez , Eduardo Tolosa , Yen Tai , Marios Politis , Debra Smejdir , Linda Rees , Karen Williams , Farah Kausar , Karen Williams , Whitney Richardson , Diana Willeke , Shawnees Pea , Barbara Sommerfeld , Alison Freed , Katrina Wakeman , Courtney Blair , Stephanie Guthrie , Leigh Harrell , Christine Hunter , Cathi-Ann Thomas , Raymond James , Grace Zimmerman , Victoria Brown , Jennifer Mule , Ella Hilt , Kori Ribb , Susan Ainscough , Misty Wethington , Madelaine Ranola , Helen Mejia Santana , Juliana Moreno , Lisbeth Carvajal , Stephanie Carvalo , Ioana Croitoru , Alicia Garrido , Laura Marie Payne , Veena Viswanth , Lawrence Severt , Maurizio Facheris , Holly Soares , Mark A. Mintun , Jesse Cedarbaum , Peggy Taylor , Emily Vandenbroucke , Zulfiqar Haider Sheikh , Baris Bingol , Tanya Fischer , Pablo Sardi , Remi Forrat , Jan Egebjerg , Gabrielle Ahlberg Hillert , Barbara Saba , Chris Min , Robert Umek , Joe Mather , Susan De Santi , Anke Post , Frank Boess , Igor Grachev , Andreja Avbersek , Pierandrea Muglia , Kaplana Merchant , Johannes Tauscher
Tanya Simuni
Michael C Brumm
Liz Uribe
Chelsea Caspell‐garcia
Christopher S Coffey
Andrew Siderowf
  • Function : Author
Roy N Alcalay
John Q Trojanowski
Leslie M Shaw
  • Function : Author
John Seibyl
Andrew Singleton
Arthur W Toga
Doug Galasko
  • Function : Author
Tatiana Foroud
Kelly Nudelman
Duygu Tosun‐turgut
Kathleen Poston
Daniel Weintraub
Brit Mollenhauer
Caroline M Tanner
Karl Kieburtz
  • Function : Author
Lana M Chahine
Alyssa Reimer
Samantha Hutten
  • Function : Author
Susan Bressman
Kenneth Marek
Andrew Siderowf
  • Function : Author
John Seibyl
  • Function : Author
Christopher Coffey
  • Function : Author
Caroline Tanner
  • Function : Author
Duygu Tosun-Turgut
  • Function : Author
Tanya Simuni
  • Function : Author
Leslie M. Shaw
  • Function : Author
John Q. Trojanowski
  • Function : Author
Andrew Singleton
  • Function : Author
Karl Kieburtz
  • Function : Author
Arthur Toga
  • Function : Author
Brit Mollenhauer
  • Function : Author
Douglas Galasko
  • Function : Author
Lana M. Chahine
  • Function : Author
Werner Poewe
  • Function : Author
Tatiana Foroud
  • Function : Author
Kathleen Poston
  • Function : Author
Susan Bressman
  • Function : Author
Alyssa Reimer
  • Function : Author
Vanessa Arnedo
  • Function : Author
Adrienne Clark
  • Function : Author
Mark Frasier
  • Function : Author
Catherine Kopil
  • Function : Author
Sohini Chowdhury
  • Function : Author
Todd Sherer
  • Function : Author
Kenneth Marek
  • Function : Author
Nichole Daegele
  • Function : Author
Cynthia Casaceli
  • Function : Author
Renee Wilson
  • Function : Author
John Seibyl
  • Function : Author
Christina Salerno
  • Function : Author
Christopher Coffey
  • Function : Author
Karen Crawford
  • Function : Author
Tatiana Foroud
  • Function : Author
Paola Casalin
  • Function : Author
Giulia Malferrari
  • Function : Author
Mali Gani Weisz
  • Function : Author
Avi Orr-Urtreger
  • Function : Author
John Trojanowski
  • Function : Author
Leslie Shaw
  • Function : Author
Andrew Singleton
  • Function : Author
Tatiana Foroud
  • Function : Author
Tatiana Foroud
  • Function : Author
Thomas Montine
  • Function : Author
Tatiana Foroud
  • Function : Author
Chris Baglieri
  • Function : Author
Amanda Christini
  • Function : Author
David Russell
  • Function : Author
Caroline Tanner
  • Function : Author
Tanya Simuni
  • Function : Author
Nabila Dahodwala
  • Function : Author
Brit Mollenhauer
  • Function : Author
Douglas Galasko
  • Function : Author
Werner Poewe
  • Function : Author
Nir Giladi
  • Function : Author
Penelope Hogarth
  • Function : Author
David Standaert
  • Function : Author
Robert Hauser
  • Function : Author
Joseph Jankovic
  • Function : Author
Marie Saint-Hilaire
  • Function : Author
Irene Richard
  • Function : Author
David Shprecher
  • Function : Author
Hubert Fernandez
  • Function : Author
Katrina Brockmann
  • Function : Author
Liana Rosenthal
  • Function : Author
Paolo Barone
  • Function : Author
Alberto Espay
  • Function : Author
Dominic Rowe
  • Function : Author
Karen Marder
  • Function : Author
Anthony Santiago
  • Function : Author
Susan Bressman
  • Function : Author
Shu-Ching Hu
  • Function : Author
Stuart Isaacson
  • Function : Author
Javiar Ruiz Martinez
  • Function : Author
Eduardo Tolosa
  • Function : Author
Yen Tai
  • Function : Author
Marios Politis
  • Function : Author
Debra Smejdir
  • Function : Author
Linda Rees
  • Function : Author
Karen Williams
  • Function : Author
Farah Kausar
  • Function : Author
Karen Williams
  • Function : Author
Whitney Richardson
  • Function : Author
Diana Willeke
  • Function : Author
Shawnees Pea
  • Function : Author
Barbara Sommerfeld
  • Function : Author
Alison Freed
  • Function : Author
Katrina Wakeman
  • Function : Author
Courtney Blair
  • Function : Author
Stephanie Guthrie
  • Function : Author
Leigh Harrell
  • Function : Author
Christine Hunter
  • Function : Author
Cathi-Ann Thomas
  • Function : Author
Raymond James
  • Function : Author
Grace Zimmerman
  • Function : Author
Victoria Brown
  • Function : Author
Jennifer Mule
  • Function : Author
Ella Hilt
  • Function : Author
Kori Ribb
  • Function : Author
Susan Ainscough
  • Function : Author
Misty Wethington
  • Function : Author
Madelaine Ranola
  • Function : Author
Helen Mejia Santana
  • Function : Author
Juliana Moreno
  • Function : Author
Lisbeth Carvajal
  • Function : Author
Stephanie Carvalo
  • Function : Author
Ioana Croitoru
  • Function : Author
Alicia Garrido
  • Function : Author
Laura Marie Payne
  • Function : Author
Veena Viswanth
  • Function : Author
Lawrence Severt
  • Function : Author
Maurizio Facheris
  • Function : Author
Holly Soares
  • Function : Author
Mark A. Mintun
  • Function : Author
Jesse Cedarbaum
  • Function : Author
Peggy Taylor
  • Function : Author
Emily Vandenbroucke
  • Function : Author
Zulfiqar Haider Sheikh
  • Function : Author
Baris Bingol
  • Function : Author
Tanya Fischer
  • Function : Author
Pablo Sardi
  • Function : Author
Remi Forrat
  • Function : Author
Jan Egebjerg
  • Function : Author
Gabrielle Ahlberg Hillert
  • Function : Author
Barbara Saba
  • Function : Author
Chris Min
  • Function : Author
Robert Umek
  • Function : Author
Joe Mather
  • Function : Author
Susan De Santi
  • Function : Author
Anke Post
  • Function : Author
Frank Boess
  • Function : Author
Igor Grachev
  • Function : Author
Andreja Avbersek
  • Function : Author
Pierandrea Muglia
  • Function : Author
Kaplana Merchant
  • Function : Author
Johannes Tauscher
  • Function : Author

Abstract

A B S T R A C T : Background: There are limited data on the phenotypic and dopamine transporter (DAT) imaging characterization of the Parkinson’s disease (PD) patients with leucine rich kinase 2 (LRRK2) and glucosylceramidase beta (GBA) mutations. Objective: The objective of this study was to examine baseline clinical and DAT imaging characteristics in GBA and LRRK2 mutation carriers with early PD compared with sporadic PD. Methods: The Parkinson’s Progression Markers Initiative is an ongoing observational longitudinal study that enrolled participants with sporadic PD, LRRK2 and GBA PD carriers from 33 sites worldwide. All participants are assessed annually with a battery of motor and nonmotor scales, 123-I Ioflupane DAT imaging, and biologic variables. Results: We assessed 158 LRRK2 (89% G2019S), 80 GBA (89 %N370S), and 361 sporadic PD participants with the mean (standard deviation) disease duration of 2.9 (1.9), 3.1 (2.0), and 2.6 (0.6) years, respectively. When compared with sporadic PD, the GBA PD patients had no difference in any motor, cognitive, or autonomic fea- tures. The LRRK2 PD patients had less motor disability and lower rapid eye movement behavior disorder ques- tionnaire scores, but no meaningful difference in cogni- tive or autonomic features. Both genetic cohorts had a higher score on the impulse control disorders scale when compared with sporadic PD, but no difference in other psychiatric features. Both genetic PD cohorts had less loss of dopamine transporter on DAT imaging when com- pared with sporadic PD. Conclusions: We confirm previous reports of milder phenotype associated with LRRK2-PD. A previously reported more aggressive phenotype in GBA-PD is not evident early in the disease in N370s carriers. This observation identifies a window for potential disease- modifying interventions. Longitudinal data will be essen- tial to define the slope of progression for both genetic cohorts.
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hal-04488532 , version 1 (04-03-2024)

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Attribution - NonCommercial - NoDerivatives

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Tanya Simuni, Michael C Brumm, Liz Uribe, Chelsea Caspell‐garcia, Christopher S Coffey, et al.. Clinical and Dopamine Transporter Imaging Characteristics of Leucine Rich Repeat Kinase 2 (LRRK2) and Glucosylceramidase Beta (GBA) Parkinson's Disease Participants in the Parkinson's Progression Markers Initiative: A Cross‐Sectional Study. Movement Disorders, 2020, 35 (5), pp.833-844. ⟨10.1002/mds.27989⟩. ⟨hal-04488532⟩
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