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Abstract Details

Clinical and imaging characteristics of non-manifest LRRK2 and GBA carriers: The PPMI cohort
Movement Disorders
S41 - Imaging in Movement Disorders (4:14 PM-4:25 PM)
005
Monogenetic forms of Parkinson's disease represent a unique and potentially informative subset of all PD cases.  More information is needed regarding these cases, particularly in the period before signs of parkinsonism become manifest. 

To examine baseline prevalence of Parkinson’s disease (PD) clinical features and DAT abnormalities in a cohort of non-manifest carriers (NMC) of GBA and LRRK2 compared to Healthy controls (HC).

Parkinson’s Progression Markers Initiative (PPMI) is a longitudinal ongoing controlled study of at baseline de novo PD participants, HC and carriers of PD relevant genetic mutations.  All participants are assessed annually with a spectrum of motor and non-motor scales, DAT imaging and biologic variables.

The study enrolled 194 LRRK2 (91% G2019S) and 132 GBA(96 %N370S)  NMCs via worldwide recruitment initiative. NMCs average age was 61.9(7.1), 60% female, 87% had first degree PD relative. 25% of LRRK2 and 9% of GBA NMCs had abnormal DAT scan. Compared to HC, both LRRK2 and GBA NMCs had higher scores on MDS-UPDRS Total, Part I, II, III and lower MOCA scores that were independent of DAT results. There was no difference in sleepiness and RBD scores in NMCs compared to HC. Hyposmia was significant only in LRRK2 and predicted abnormal DAT scan but not in GBA NMCs. GBA NMCs compared to LRRK2s had higher MDS-UPDRS Part I score but better hyposmia scores and no difference in RBD scores.

Our data demonstrate evidence of subtle PD motor and non-motor signs in NMCs that can precede DAT abnormalities and provide comparison between LRRK2 and GBA NMCs. Longitudinal data will be essential to establish risk factors for phenoconversion.  
Authors/Disclosures
Andrew D. Siderowf, MD
PRESENTER
Dr. Siderowf has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Biogen. Dr. Siderowf has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Mitsubishi. Dr. Siderowf has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Boehringer-Ingelheim. Dr. Siderowf has received personal compensation in the range of $500-$4,999 for serving as a Consultant for askbio. Dr. Siderowf has received personal compensation in the range of $500-$4,999 for serving as a Consultant for capsida. Dr. Siderowf has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Parkinson Study Group. Dr. Siderowf has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Theravance. Dr. Siderowf has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Neurocrine. Dr. Siderowf has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Prilenia. Dr. Siderowf has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Wave. Dr. Siderowf has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Neurogastrix. Dr. Siderowf has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Prevail. Dr. Siderowf has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Alerity. Dr. Siderowf has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Clintrex. Dr. Siderowf has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Inhibikase. Dr. Siderowf has a non-compensated relationship as a Scientific Advisory Board with NeuroPacs that is relevant to AAN interests or activities.
Tanya Simuni, MD, FAAN (Northwestern University Feinberg School of Medicien) Dr. Simuni has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for cadia, AcureX, Adamas, AskBio, Amneal, Blue Rock Therapeutics, Caraway Therapeutics, Critical Path for Parkinson's Consortium (CPP), Denali, Michael J Fox Foundation, Neuroderm, Sanofi, Sinopia, Roche, Takeda and Vanqua Bio. Dr. Simuni has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for of Koneksa, Neuroderm, Sanofi, UCB, AcureX, Adamas, AskBio, Biohaven, Denali, GAIN, Neuron23 and Roche. Dr. Simuni has received research support from Amneal, Biogen, Neuroderm, Prevail, Roche, and UCB and an investigator for NINDS, MJFF, Parkinson's Foundation.
No disclosure on file
No disclosure on file
Christopher Coffey, PhD, FAAN (University of Iowa) Dr. Coffey has received personal compensation in the range of $5,000-$9,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for American Heart Association. The institution of Dr. Coffey has received research support from NIH. The institution of Dr. Coffey has received research support from Michael J Fox Foundation.
Tatiana Foroud, PhD (Indiana University School of Medicine) The institution of Dr. Foroud has received research support from NIH. The institution of Dr. Foroud has received research support from Michael J. Fox Foundation. The institution of Dr. Foroud has received research support from Parkinson Foundation. Dr. Foroud has received personal compensation in the range of $500-$4,999 for serving as a Member of an Advisory Committee with Mayo Clinic, University of Pennsylvania, Allen Institute, Mt. Sinai, Van Andel Institute.
Brit Mollenhauer No disclosure on file
Caroline M. Tanner, MD, PhD, FAAN (University of California San Francisco, Weill Institute for Neurosciences) Dr. Tanner has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Evidera. Dr. Tanner has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Neurocrine. Dr. Tanner has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Jazz Pharmaceuticals/Cavion. Dr. Tanner has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Bial . Dr. Tanner has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Supernus. Dr. Tanner has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Roche Genentech. The institution of Dr. Tanner has received research support from Gateway LLC. The institution of Dr. Tanner has received research support from Roche\Genentech. The institution of Dr. Tanner has received research support from Michael J Fox Foundation . The institution of Dr. Tanner has received research support from National Institute of Health . The institution of Dr. Tanner has received research support from Department of Defense. Dr. Tanner has received personal compensation in the range of $500-$4,999 for serving as a Faculty, CME presentation with Medscape /WebND.
Karl D. Kieburtz, MD (University of Rochester Medical Center) Dr. Kieburtz has received personal compensation for serving as an employee of Clintrex Research Corporation. Dr. Kieburtz has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Roche. Dr. Kieburtz has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Lilly. Dr. Kieburtz has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Janssen. Dr. Kieburtz has stock in Clintrex Research Corp. Dr. Kieburtz has stock in Hoover Brown. An immediate family member of Dr. Kieburtz has stock in Hoover Brown. Dr. Kieburtz has stock in Safe Therapeutics. The institution of Dr. Kieburtz has received research support from NIH. The institution of Dr. Kieburtz has received research support from Michae J Fox Foundation.
Lana Chahine, MD, FAAN Dr. Chahine has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Gray Matters Technology. The institution of Dr. Chahine has received research support from UPMC. The institution of Dr. Chahine has received research support from MJFF. The institution of Dr. Chahine has received research support from Denali/Biogen. Dr. Chahine has received publishing royalties from a publication relating to health care.
Kenneth L. Marek, MD (IND) Dr. Marek has received personal compensation for serving as an employee of IND. Dr. Marek has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for invicro. Dr. Marek has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Roche. Dr. Marek has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Sanofi. Dr. Marek has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Biohaven. Dr. Marek has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for takeda. Dr. Marek has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Denali. Dr. Marek has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Koneksa. Dr. Marek has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Xingimaging. Dr. Marek has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Neuron23. Dr. Marek has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Lilly. Dr. Marek has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Biohaven. Dr. Marek has received research support from Michael J Fox Foundation.