The DOI matches its Crossref record; 40 of the 40 references it cites were found in a registry or an index.
Survival and dementia in GBA ‐associated Parkinson's disease: The mutation matters
Abstract
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 < 0.001) and death (HR = 1.85; p = 0.002) than noncarriers. When dementia was introduced in the model as a time‐dependent covariate, the mortality risk remained greater in carriers (HR = 1.65; p = 0.016), suggesting that other clinical features are likely to contribute to reduced survival. At last examination, GBA carriers had worse motor symptoms, particularly nondopaminergic features. Carriers of severe mutations had greater risk for dementia compared to mild mutations ( p < 0.001), but similar mortality risk. Consistent with clinical data, GBA carriers showed reduced posterior parietal and occipital cortical synaptic activity and nigrostriatal function than PD noncarriers. Neuroimaging features of carriers of mild mutations overlapped with PD noncarriers, whereas carriers of severe mutations were closer to DLB. Interpretation: Survival is reduced in GBA carriers compared to noncarriers; this seems to be partially independent from the increased risk for early dementia. The risk for dementia is strongly modulated by type of mutation. In the clinical continuum between PD and DLB, patients with GBA mutations seem to localize midway, with carriers of severe mutations closer to DLB than to idiopathic PD. Ann Neurol 2016;80:662–673
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Cited by
Poewe, W., Seppi, K., Tanner, C. M., Halliday, G. M., Brundin, P., Volkmann, J., Schrag, A.-E., & Lang, A. E. (2017) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2017.13 · Cited by 5,415
Cognitive decline in Parkinson disease
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A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments
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The genetics of Parkinson disease
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GBA, Gaucher Disease, and Parkinson’s Disease: From Genetic to Clinic to New Therapeutic Approaches
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Metadata
- Authors
- Cilia, R., Tunesi, S., Marotta, G., Cereda, E., Siri, C., Tesei, S., Zecchinelli, A. L., Canesi, M., Mariani, C. B., Meucci, N., Sacilotto, G., Zini, M., Barichella, M., Magnani, C., Duga, S., Asselta, R., Soldà, G., Seresini, A., Seia, M., Pezzoli, G., & Goldwurm, S.
- Venue
- Annals of Neurology
- Publisher
- Wiley
- Published
- 2016-10-03
- Volume
- 80
- Issue
- 5
- Pages
- 662-673
- ISSN
- 0364-5134 (ISSN-L)
- 1531-8249
- OpenAlex
- W2523238466
- Cited by
- 406
- References
- 40
- FWCI
- 20.53
- Type
- journal article
- Language
- en
- Open access
- closed
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- Cilia, R., Tunesi, S., Marotta, G., Cereda, E., Siri, C., Tesei, S., Zecchinelli, A. L., Canesi, M., Mariani, C. B., Meucci, N., Sacilotto, G., Zini, M., Barichella, M., Magnani, C., Duga, S., Asselta, R., Soldà, G., Seresini, A., Seia, M., . . . Goldwurm, S. (2016). Survival and dementia in GBA ‐associated Parkinson's disease: The mutation matters. Annals of Neurology. https://doi.org/10.1002/ana.24777
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