Survival and dementia in GBA ‐associated Parkinson's disease: T he mutation matters

Objective The objective of this work was to investigate survival, dementia, and genotype‐phenotype correlations in patients with Parkinson's disease (PD) with and without mutations on the glucocerebrosidase gene ( GBA ). Methods We included 2,764 unrelated consecutive PD patients: 123 GBA carri...

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Bibliographic Details
Published in:Annals of neurology 2016-11, Vol.80 (5), p.662-673
Main Authors: Cilia, Roberto, Tunesi, Sara, Marotta, Giorgio, Cereda, Emanuele, Siri, Chiara, Tesei, Silvana, Zecchinelli, Anna L., Canesi, Margherita, Mariani, Claudio B., Meucci, Nicoletta, Sacilotto, Giorgio, Zini, Michela, Barichella, Michela, Magnani, Corrado, Duga, Stefano, Asselta, Rosanna, Soldà, Giulia, Seresini, Agostino, Seia, Manuela, Pezzoli, Gianni, Goldwurm, Stefano
Format: Article
Language:English
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Summary:Objective The objective of this work was to investigate survival, dementia, and genotype‐phenotype correlations in patients with Parkinson's disease (PD) with and without mutations on the glucocerebrosidase gene ( GBA ). Methods We included 2,764 unrelated consecutive PD patients: 123 GBA carriers (67 mild‐p.N370S and 56 severe mainly p.L444P) and 2,641 noncarriers. Brain perfusion and dopamine transporter imaging was analyzed, including dementia with Lewy Bodies (DLB) as an additional control group. Results Multivariable analysis adjusted by sex, age at onset, and disease duration attributed to GBA carriers a greater risk for dementia (hazard ratio [HR] = 3.16; p  
ISSN:0364-5134
1531-8249
DOI:10.1002/ana.24777