Abstract Details

Title Prodromal Parkinson Disease in a Canadian Gaucher Disease Cohort

Topic Movement Disorders

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

Poster/Presentation
Number 3-004

Objective To describe the features of prodromal Parkinson disease (PD) in a Canadian cohort of type 1 Gaucher disease (GD) patients.

Background GD is a systemic disorder associated with mutations in the glucocerebrosidase (GBA) gene. GBA mutations are the most common genetic risk factors for PD. A broad spectrum of parkinsonian features is observed among GD patients.

Design/Methods We performed a cross-sectional cohort study of 47 patients with GD type 1. GBA
mutations were identified by DNA sequencing. The Movement Disorder Society Unified Parkinson Disease Rating Scale (MDS-UPDRS) parts I-III and the Montreal Cognitive Assessment (MoCA) were performed. Family history was collected. Probability of prodromal PD was calculated according to the most recent MDS criteria(www.movementdisorders.org/pdcalculator).

Results Our cohort mean age (±standard deviation) was 50.1 (±15.8) years, 74% were female. The most common GBA mutations were N370S (78%) and L444P (31%); 25% were homozygous. 19 different ethnicities were reported and 17% of patients were of Ashkenazi Jewish descent. 36% had a family history of PD. 11 patients (23%) fulfilled criteria for prodromal PD and 2 (4%) were diagnosed with PD; both had the L444P mutation. Mean (±stdev) scores for MDS-UPDRS are as follows: part I 9.1 (±6.5); part II 2.6 (±3.6); part III 6.6 (±9.3).16 subjects (34%) had constipation, 7 (15%) reported hyposmia, 6 (13%) reported features of REM behaviour disorder, 21 patients (45%) scored below 26 on the MoCA.

Conclusions

This is the first description of the spectrum of parkinsonian features in a Canadian GD cohort. To our knowledge, this is also the first report applying the recent MDS criteria for prodromal PD to a GD cohort. 23% of the patients fulfilled criteria for prodromal PD and 2 patients were diagnosed with PD. These numbers are higher than previously described in other cohorts.

Authors/Disclosures
Priti Gros, MD (University of Toronto) PRESENTER	Dr. Gros has nothing to disclose.
	No disclosure on file
	No disclosure on file
Lorraine Kalia, MD, PhD, FRCPC	Dr. Kalia has received personal compensation in the range of $0-$499 for serving as a Consultant for Cure Ventures. Dr. Kalia has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Ipsen. Dr. Kalia has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Knight Therapeutics. Dr. Kalia has received personal compensation in the range of $500-$4,999 for serving as a Consultant for UCB. Dr. Kalia 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 IOS Press/Sage Publications. The institution of Dr. Kalia has received research support from Canadian Institutes of Health Research. The institution of Dr. Kalia has received research support from Natural Sciences and Engineering Research Council of Canada. The institution of Dr. Kalia has received research support from Michael J. Fox Foundation for Parkinson's Research. The institution of Dr. Kalia has received research support from Cure Parkinson's. The institution of Dr. Kalia has received research support from Krembil Foundation. Dr. Kalia has received intellectual property interests from a discovery or technology relating to health care.

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