Petrucci, S;
Ginevrino, M;
Trezzi, I;
Monfrini, E;
Ricciardi, L;
Albanese, A;
Avenali, M;
Barone, P;
Bentivoglio, AR;
Bonifati, V;
et al.
Petrucci, S; Ginevrino, M; Trezzi, I; Monfrini, E; Ricciardi, L; Albanese, A; Avenali, M; Barone, P; Bentivoglio, AR; 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, MT; Petracca, M; Picillo, M; Pisani, A; Vallelunga, A; Zangaglia, R; Di Fonzo, A; Morgante, F; Valente, EM
(2020)
GBA ‐Related Parkinson's Disease: Dissection of Genotype–Phenotype Correlates in a Large Italian Cohort.
MOVEMENT DISORDERS, 35 (11).
pp. 2106-2111.
ISSN 0885-3185
https://doi.org/10.1002/mds.28195
SGUL Authors: Morgante, Francesca
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Abstract
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.
Item Type: | Article | ||||||||
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Additional Information: | This is the peer reviewed version of the following article: 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. and (2020), GBA‐Related Parkinson's Disease: Dissection of Genotype–Phenotype Correlates in a Large Italian Cohort. Mov Disord, 35: 2106-2111, which has been published in final form at https://doi.org/10.1002/mds.28195. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions. | ||||||||
Keywords: | 1103 Clinical Sciences, 1106 Human Movement and Sports Sciences, 1702 Cognitive Sciences, Neurology & Neurosurgery | ||||||||
SGUL Research Institute / Research Centre: | Academic Structure > Molecular and Clinical Sciences Research Institute (MCS) | ||||||||
Journal or Publication Title: | MOVEMENT DISORDERS | ||||||||
ISSN: | 0885-3185 | ||||||||
Dates: |
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Publisher License: | Publisher's own licence | ||||||||
URI: | https://openaccess.sgul.ac.uk/id/eprint/112007 | ||||||||
Publisher's version: | https://doi.org/10.1002/mds.28195 |
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