GBA-Related Parkinson's Disease: Dissection of Genotype–Phenotype Correlates in a Large Italian Cohort
| Title: | GBA-Related Parkinson's Disease: Dissection of Genotype–Phenotype Correlates in a Large Italian Cohort |
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| Authors: | Petrucci S.; Ginevrino M.; Trezzi I.; Monfrini E.; Ricciardi L.; Albanese A.; Avenali M.; Barone P.; Bentivoglio A. R.; Bonifati V.; Bove F.; Bonanni L.; Brusa L.; Cereda C.; Cossu G.; Criscuolo C.; Dati G.; De Rosa A.; Eleopra R.; Fabbrini G.; Fadda L.; Garbellini M.; Minafra B.; Onofrj M.; Pacchetti C.; Palmieri I.; Pellecchia M. T.; Petracca M.; Picillo M.; Pisani A.; Vallelunga A.; Zangaglia R.; Di Fonzo A.; Morgante F.; Valente E. M.; Altavista M. C.; Amboni M.; Ardolino G.; Berardelli A.; Cogiamanian F.; Colosimo C.; Costanti D.; De Michele G.; Bonaventura C. D.; Di Lazzaro G.; Di Lazzaro V.; Emanuele Elia A.; Erro R.; Ferrazzano G.; Guerra A.; Ialongo T.; Malaguti M. C.; Melis M.; Moro E.; Oppo V.; Ottaviani D.; Peluso S.; Quadri M. L.; Romito L. M.; Sarchioto M.; Schirinzi T.; Sorbera C.; Stefani A.; Thomas A.; Valente M. L.; Volpe G; ITA-GENE-PD Study Group. |
| Contributors: | Petrucci, S.; Ginevrino, M.; Trezzi, I.; Monfrini, E.; Ricciardi, L.; Albanese, A.; Avenali, M.; Barone, P.; Bentivoglio, A. R.; Bonifati, V.; Bove, F.; Bonanni, L.; Brusa, L.; Cereda, C.; Cossu, G.; Criscuolo, C.; Dati, G.; De Rosa, A.; Eleopra, R.; Fabbrini, G.; Fadda, L.; Garbellini, M.; Minafra, B.; Onofrj, M.; Pacchetti, C.; Palmieri, I.; Pellecchia, M. T.; Petracca, M.; Picillo, M.; Pisani, A.; Vallelunga, A.; Zangaglia, R.; Di Fonzo, A.; Morgante, F.; Valente, E. M.; Altavista, M. C.; Amboni, M.; Ardolino, G.; Berardelli, A.; Cogiamanian, F.; Colosimo, C.; Costanti, D.; De Michele, G.; Bonaventura, C. D.; Di Lazzaro, G.; Di Lazzaro, V.; Emanuele Elia, A.; Erro, R.; Ferrazzano, G.; Guerra, A.; Ialongo, T.; Malaguti, M. C.; Melis, M.; Moro, E.; Oppo, V.; Ottaviani, D.; Peluso, S.; Quadri, M. L.; Romito, L. M.; Sarchioto, M.; Schirinzi, T.; Sorbera, C.; Stefani, A.; Thomas, A.; Valente, M. L.; Volpe, G; ITA-GENE-PD Study, Group. |
| Publisher Information: | John Wiley and Sons Inc; 111 RIVER ST, HOBOKEN 07030-5774, NJ USA |
| Publication Year: | 2020 |
| Collection: | Sapienza Università di Roma: CINECA IRIS |
| Subject Terms: | dementia; GBA; genotype–phenotype correlate; impulsive–compulsive behavior; Parkinson's disease; Dissection; Genotype; Glucosylceramidase; Human; Italy; Mutation; Phenotype; Parkinson Disease |
| Description: | Background: Variants in GBA are the most common genetic risk factor for Parkinson's disease (PD). The impact of different variants on the PD clinical spectrum is still unclear. Objectives: We determined the frequency of GBA-related PD in Italy and correlated GBA variants with motor and nonmotor features and their occurrence over time. Methods: Sanger sequencing of the whole GBA gene was performed. Variants were classified as mild, severe, complex, and risk. β-glucocerebrosidase activity was measured. The Kaplan-Meier method and Cox proportional hazard regression models were performed. Results: Among 874 patients with PD, 36 variants were detected in 14.3%, including 20.4% early onset. Patients with GBA-PD had earlier and more frequent occurrence of several nonmotor symptoms. Patients with severe and complex GBA-PD had the highest burden of symptoms and a higher risk of hallucinations and cognitive impairment. Complex GBA-PD had the lowest β-glucocerebrosidase activity. Conclusions: GBA-PD is highly prevalent in Italy. Different types of mutations underlie distinct phenotypic profiles. © 2020 International Parkinson and Movement Disorder Society. |
| Document Type: | article in journal/newspaper |
| Language: | English |
| Relation: | info:eu-repo/semantics/altIdentifier/pmid/32658388; info:eu-repo/semantics/altIdentifier/wos/WOS:000547743300001; volume:35; issue:11; firstpage:2106; lastpage:2111; numberofpages:6; journal:MOVEMENT DISORDERS; http://hdl.handle.net/11573/1555346 |
| DOI: | 10.1002/mds.28195 |
| Availability: | http://hdl.handle.net/11573/1555346; https://doi.org/10.1002/mds.28195 |
| Rights: | info:eu-repo/semantics/closedAccess |
| Accession Number: | edsbas.E236F3B9 |
| Database: | BASE |