title: Prodromal Clinical Markers of Parkinson disease in Gaucher Disease Individuals.
abstract: Heterozygous mutations in the glucocerebrosidase (GBA) gene have been reported as a common risk factor for the development of Parkinson's disease (PD) in Gaucher disease (GD) patients and in heterozygous GBA mutation positive carriers. In this study, we analyzed the occurrence of prodromal markers of PD in an Argentinean cohort with type 1 GD. After signed informed consent, we evaluated 26 patients with type 1 GD under enzymatic replacement therapy from a cohort of the Hospital Ricardo Gutierrez GD Study Group in Buenos Aires City, Argentina. We performed an extensive neurological examination, including cognitive assessment by Montreal Cognitive Assessment (MoCA) and a questionnaire performed ad hoc, to identify non-motor PD symptoms. Parasomnias were reported by 7 patients (26.92%), rapid eye movement behavior disorders in 2 (7.69%), constipation in 2 (7.69%), hyposmia in 1 (3.84%), tremor in 1 (3.84%), and depression in 3 cases (11.53%). MoCA assessment was abnormal in 44.44% of patients. No patient fulfilled PD diagnostic criteria (Queen Square Brain Bank criteria). The identification of prodromal markers of PD in type 1 GD suggests that this population represents a very interesting cohort for identifying potential biomarkers and neuroprotective therapies for PD.
authors.affiliation: Instituto de Neurociencias Buenos Aires, INEBA, Buenos Aires, Argentina.
authors.forename: Emilia M
authors.initials: EM
authors.lastname: Gatto
authors.forename: Jose Luis
authors.initials: JL
authors.lastname: Etcheverry
authors.forename: Ana
authors.initials: A
authors.lastname: Sanguinetti
authors.forename: Martin
authors.initials: M
authors.lastname: Cesarini
authors.forename: Nicolas
authors.initials: N
authors.lastname: Fernandez Escobar
authors.forename: Guillermo
authors.initials: G
authors.lastname: Drelichman
mesh_terms: D000293:Adolescent; D000328:Adult; D015415:Biomarkers; D002648:Child; D056947:Enzyme Replacement Therapy; D005260:Female; D005776:Gaucher Disease / Q000150:complications / Q000188:drug therapy / Q000235:genetics; D005962:Glucosylceramidase / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010300:Parkinson Disease / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D012307:Risk Factors; D055815:Young Adult
chemical_list: D015415:Biomarkers; D005962:Glucosylceramidase