Abstract Details

Title Motor scores and sleep survey in GBA1 mutation carriers at risk for Parkinson Disease

Topic Movement Disorders

Presentation(s) P3 - Poster Session 3 (12:00 PM-1:00 PM)

Poster/Presentation
Number 3-016

Objective This cross-sectional study aims to describe the motor features of subjects homozygous and heterozygous for GBA1 mutations and compare them to patients with GBA1-associated parkinsonism and healthy controls.

Background Homozygous mutations in Glucosidase Beta Acid 1 (GBA1), the gene that codes for the enzyme glucocerebrosidase (GCAase), are found in patients with Gaucher Disease (GD), a lysosomal storage disorder. GCAse catalyzes the breakdown of glucosylceramide (GlcCer) to ceramide and glucose. The discovery of an association between mutations in GBA1 and the development of parkinsonism highlights the role of lysosomal dysfunction in neurodegeneration.

Design/Methods The sample consisted of 89 patients. Evaluations were done at the Gaucher Clinic at the NIH Clinical Center from 2009 until present. The 9-hole peg test was used for determining motor scores. Patients answered questions relating to Restless Leg Syndrome (RLS), Rapid Eye Movement (REM) behavior disorder, and sleep disturbances. The University of Pennsylvania Smell Identification Test (UPSIT) is administered and scored. Statistical analysis was done by group using the software R Studio.

Results Patients with GBA1-associated parkinsonism showed slower times in the 9-hole peg test using dominant and non-dominant hand (P=0.033 & 0.009, respectively) and scored the least in the Smell Identification Test (P<0.001). Patients with Parkinson disease reported that they had sleep disturbances (69%) and REM Behavior Disorder (31%).

Conclusions Patients with PD reported more sleep disturbances, REM behavior disorder, and abnormal olfactory function compared to other groups. The 9-hole peg speed ratio between dominant hand and non-dominant hand was decreased in patients with PD consistent with asymmetric bradykinesia typically seen in these patients specifically in the non-dominant hand. Longitudinal evaluation of patients carrying the GBA1 mutation may identify the subgroup of patients at increased risk for developing PD.

Authors/Disclosures
Andrea I. Otero Rios PRESENTER	No disclosure on file
	No disclosure on file
	No disclosure on file
	No disclosure on file
	No disclosure on file
	No disclosure on file
Ellen Sidransky, MD (National Institutes of Health)	The institution of Dr. Sidransky has received research support from mjff. The institution of Dr. Sidransky has received research support from Roche.
Grisel J. Lopez, MD (National Institutes of Health)	Dr. Lopez has nothing to disclose.

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