Bagella, Caterina Francesca (2014) Disturbo del controllo degli impulsi e sindrome da disregolazione dopaminergica nella malattia di Parkinson associata a mutazioni del gene Parkina o glucocerebrosidasi. Doctoral Thesis.
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Aim: To evaluate whether the presence of GBA or PARK2 gene mutations are associated to more severe impulse control disorders and related behaviors (ICD-RB) in Parkinson’s disease (PD).
Methods: We enrolled a consecutive series of PD patients according with the following criteria: diagnosis of PD according to Gelb’s criteria; early-onset of PD (< 50 years) or positive family history for PD; disease duration of at least 3 years; dopaminergic treatment of at least 300 LED; genetic assessment available for PARK2 and GBA. Each patient was evaluated with a complete neuropsychological assessment, ICD-RB was investigated using QUIP-rating scale (0-112). QUIP scores were expressed as means (±SD) and compared between the three groups by non-parametric analysis.
Results: We enrolled a series of 38 patients. 15 patients carried a mutation in the GBA gene, 12 patients carried a mutation in the Parkin gene, 11 patients were not carriers. There was no difference among groups in age at onset, disease duration or LED. Frequency of ICD was significantly higher in the GBA group compared with Parkin and non carriers (p<0.05 for each comparison). Patients who carried GBA mutation had higher subscores for hypersexuality (p<0.05).
Conclusions: We found more severe ICD-RB in PD patients who carry heterozygous GBA gene mutation than in Parkin patients or in non carrier. GBA mutation status may be an independent risk factor for impulse control disorder and related behaviours in patients with PD.
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