Gene Mutation ID'd That May Predict Dementia, Mortality Risk for Parkinson's Patients

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Researchers found a greater mortality risk for carriers of the glucocerebrosidase gene (GBA)
Researchers found a greater mortality risk for carriers of the glucocerebrosidase gene (GBA)

HealthDay News — Parkinson's disease (PD) patients with glucocerebrosidase gene (GBA) mutations have increased risk for dementia and death, according to a study published online September 15 in the Annals of Neurology.

Roberto Cilia, MD, from the Parkinson Institute in Milan, and colleagues examined survival, dementia, and genotype-phenotype correlations in 2,764 unrelated PD patients, including 123 GBA carriers and 2,641 non-carriers. They analyzed brain perfusion and dopamine transporter imaging, including dementia with Lewy bodies (DLB) as an additional control group. 

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The researchers found that GBA carriers were at greater risk for dementia and death (hazard ratios, 3.16 and 1.85, respectively) than non-carriers in multivariable analysis adjusted by gender, age at onset, and disease duration. The mortality risk remained greater in carriers when dementia was introduced as a time-dependent covariate in the model (hazard ratio, 1.65). GBA carriers had worse motor symptoms, especially non-dopaminergic features, at last examination. The risk for dementia was increased for carriers of severe versus mild mutations; mortality risk was similar. Compared with PD non-carriers, GBA carriers exhibited reduced posterior parietal and occipital cortical synaptic activity and nigrostriatal function. Mild mutation carriers had neuroimaging features that overlapped with PD non-carriers, while carriers of severe mutations were more similar to DLB.

"Survival is reduced in GBA carriers compared to non-carriers; this seems to be partially independent from the increased risk for early dementia," the authors write.

Abstract
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