Pre motor symptoms of Parkinson disease in Argentinean patients with type 1 Gaucher disease. Preliminary report (P6.380)

Objective:To analyze the occurrence of prodromal markers of Parkinson disease (PD) in a cohort with type 1 Gaucher disease (GD).Background:Mutations in the glucocerebrosidase (GBA) gene have been reported as a common risk factor for the development of PD not only in GD patients but also and more frequently in GBA mutation positive carriers.Methods:After signed informed consent, we evaluated 26 patients with type 1GD under enzymatic replacement therapy (ERT) from a cohort of the Hospital Ricardo Gutierrez Gaucher Disease Study Group at the Buenos Aires City, Argentina. We performed an extensive neurological examination, including cognitive assessment by MoCa and MMSE and a questionnaire performed ad hoc to identify non-motor Parkinsons disease symptomsResults:Parasomnias were reported by 7 patients (26.92[percnt]), REM Behavior Disorders (RBD) in 1 (3.84[percnt]), hyposmia in 1(3.84[percnt]), constipation in 2 (7.69[percnt]) and depression in 3 cases (11.53[percnt]). Cognition was assessed in 18 patients by Montreal Cognitive assessment-MoCa and MMSE; 8 patients showed cognitive impairment (44.44[percnt]). Only one patient showed tremor 1(3.84[percnt]). No patient fulfilled PD diagnostic criteria (Queen Square brain bank criteria).Conclusions:The identification of prodromal markers of PD in Type 1 GD suggests that this population represent a very interesting population to explore different biomarkers and to test potential neuroprotective therapies in PD. Disclosure: Dr. Gatto has received personal compensation for activities with Tuteur, Bago, Novartis, and Glaxo-Smith Klein as a speaker and a scientific advisor. Dr. Etcheverry has received personal compensation for activities with Teva, Tuteur, Bago, Merck as a consultant and speaker. Dr. Sanguinetti has nothing to disclose. Dr. CESARINI has nothing to disclose. Dr. Soberon has received personal compensation for activities with Genzyme. Dr. Fernandez Escobar has received personal compensation for activities with Genzyme, Biotoscana. Dr. Drelichman has received personal compensation for activities with Genzyme, Biotoscana, and Novartis as an honoraria.