Phenotypic Characteristics in GBA-Associated Parkinson’s Disease: A Study in a Greek Population

Article type: Short Communication

Authors: Simitsi, Athina^a | Koros, Christos^a | Moraitou, Marina^b | Papagiannakis, Nikos^{a; d} | Antonellou, Roubina^a | Bozi, Maria^a | Angelopoulou, Efthalia^e | Stamelou, Maria^{a; c} | Michelakakis, Helen^b | Stefanis, Leonidas^{a; d; *}

Affiliations: [a] 2nd Department of Neurology, Attikon Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece | [b] Department of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece | [c] Department of Neurology, Philipps University, Marburg, Germany | [d] Center of Clinical Research, Experimental Surgery and Translational Research, Biomedical Research Foundation of the Academy of Athens, Athens, Greece | [e] 1st Department of Neurology, Medical School, National and Kapodistrian University of Athens, Athens, Greece

Correspondence: [*] Correspondence to: Leonidas Stefanis, 1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece and Center of Clinical Research, Experimental Surgery and Translational Research, Biomedical Research Foundation of the Academy of Athens, Athens, Greece, Vasilisis Sofias str, 11528, Athens, Greece. Tel.: +30 2107289404; Fax: +30 2107257621; E-mail: lstefanis@bioacademy.gr.

Abstract: We compared phenotypic characteristics in 35 Greek patients with Parkinson’s disease (PD), carriers of GBA1 mutations (GBA-PD), with 35 Genetically Unidentified PD patients (GU-PD). We found a previously reported higher prevalence of cognitive impairment and a little appreciated more frequent bilateral onset of the disease in GBA-PD vs GU-PD. As far as the exposure to environmental factors, linked to PD, is concerned, our study hints to the possibility that pesticide exposure may be more common in GBA-PD patients, and possibly act synergistically with the mutation carrier status to trigger the disease.

Keywords: Cognitive decline, environmental exposure, glucocerebrosidase, Parkinson’s disease

DOI: 10.3233/JPD-171221

Journal: Journal of Parkinson's Disease, vol. 8, no. 1, pp. 101-105, 2018