GBA-Related Parkinson's Disease: Dissection of Genotype–Phenotype Correlates in a Large Italian Cohort
- 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.
DOIAbstract
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 occur...
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