دورية أكاديمية
GBA-Related Parkinson's Disease: Dissection of Genotype–Phenotype Correlates in a Large Italian Cohort
| العنوان: | GBA-Related Parkinson's Disease: Dissection of Genotype–Phenotype Correlates in a Large Italian Cohort |
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| المؤلفون: | 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. |
| المساهمون: | S. Petrucci, M. Ginevrino, I. Trezzi, E. Monfrini, L. Ricciardi, A. Albanese, M. Avenali, P. Barone, A.R. Bentivoglio, V. Bonifati, F. Bove, L. Bonanni, L. Brusa, C. Cereda, G. Cossu, C. Criscuolo, G. Dati, A. De Rosa, R. Eleopra, G. Fabbrini, L. Fadda, M. Garbellini, B. Minafra, M. Onofrj, C. Pacchetti, I. Palmieri, M.T. Pellecchia, M. Petracca, M. Picillo, A. Pisani, A. Vallelunga, R. Zangaglia, A. Di Fonzo, F. Morgante, E.M. Valente, M.C. Altavista, M. Amboni, G. Ardolino, A. Berardelli, F. Cogiamanian, C. Colosimo, D. Costanti, G. De Michele, C.D. Bonaventura, G. Di Lazzaro, V. Di Lazzaro, A. Emanuele Elia, R. Erro, G. Ferrazzano, A. Guerra, T. Ialongo, M.C. Malaguti, M. Meli, E. Moro, V. Oppo, D. Ottaviani, S. Peluso, M.L. Quadri, L.M. Romito, M. Sarchioto, T. Schirinzi, C. Sorbera, A. Stefani, A. Thoma, M.L. Valente, G. Volpe |
| بيانات النشر: | Wiley Blackwell Publishing |
| سنة النشر: | 2020 |
| المجموعة: | The University of Milan: Archivio Istituzionale della Ricerca (AIR) |
| مصطلحات موضوعية: | dementia, GBA, genotype–phenotype correlate, impulsive–compulsive behavior, Parkinson's disease, Settore MED/26 - Neurologia |
| الوصف: | 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. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | 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; https://hdl.handle.net/2434/1016512Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85087789720 |
| DOI: | 10.1002/mds.28195 |
| الإتاحة: | https://doi.org/10.1002/mds.28195Test https://hdl.handle.net/2434/1016512Test |
| حقوق: | info:eu-repo/semantics/closedAccess |
| رقم الانضمام: | edsbas.E2DFBFCD |
| قاعدة البيانات: | BASE |
| DOI: | 10.1002/mds.28195 |
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