Objective: To describe prodromal symptoms or signs of Parkinson’s disease (PD) in a type 1 Gaucher Disease cohort (GD).

Background: Mutations in the acid b-glucocerebrosidase (GBA1) gene are the strongest genetic risk factor for Parkinson’s disease (PD) and Lewy body disease (LBD). Patients with type 1 Gaucher Disease (GD) have 20 fold increased lifetime risk of developing parkinsonism, with respect than non-carrier individuals. However, only few data are available about the prodormal PD stage in GD.

Methods: After signed informed consent, we evaluated 26 patients with type 1 GD from a cohort of the Hospital Ricardo Gutierrez Gaucher Disease Study Group at the Buenos Aires City, Argentina. Two neurologists with expertise in movement disorders reviewed the medical records and conducted an extensive neurological examination, including cognitive assessment by MoCa and MMSE and ad hoc questionnaire to identify a prodromal PD. Prodromal PD was defined as the stage where suggestive motor or non motor signs or symptoms occurred but without the fully classic clinical criteria.

Results: Sleep disorders were identified in 8 patients [parasomnias in 7 (26.92%) and RBD in 1 (3.84%)]. Hyposmia occurred in 1patient (3.84%), constipation in 2 (7.69%) and depression in 3 cases (11.53%). Eighteen patients completed MoCa and MMSE assessments; 8 patients showed cognitive impairment (44.44%). Tremor was detected in 1 case (3.84%). No patient fulfilled PD diagnostic criteria.

Conclusions: Although, genetic test was unavailable to perform in our cohort, the identification of prodromal markers of PD in Type 1 GD represents a great challenge to identify potential useful biomarkers common to both populations and open new avenues for therapeutic approach.

Yes, partially at the Argentinean Congress of Neurology.

« Back to 2016 International Congress

MDS Abstracts - https://www.mdsabstracts.org/abstract/prodromal-parkinsons-disease-in-argentinean-patients-with-gaucher-disease-type-1-preliminary-report/