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Study Suggests Glucocerebrosidase Gene Mutations Are Risk Factor For Dementia With Lewy Bodies

A study by , Ph.D., of the , Bethesda, and colleagues suggests mutations in (GBA1) are a risk factor for (DLB). (Online First)

The study compared genotype data from patients and controls from 11 centers from sites around the world performing genotyping. Researchers found 721 cases that met diagnostic criteria for DLB and 151 had (PD) with . These cases were compared with 1,962 controls from the same centers matched for age, sex, and ethnicity.

According to study results, researchers found a significant association between GBA1 mutation carrier status and DLB, with an odds ratio of 8.28. The odds ratio for PD with dementia was 6.48. The mean age at diagnosis of DLB was earlier in GBA1 mutation carriers than in noncarriers (63.5 vs. 68.9 years) with higher disease severity scores.

“GBA1 mutations likely play an even larger role in the genetic etiology of DLB than in PD, providing insight into the role of glucocerebrosidase in Lewy body disease,” the researchers conclude.


Authors made conflict of interest disclosures. Please see the articles for additional information, including other authors, author contributions and affiliations, financial disclosures, funding and support, etc.

From the Genetic Code to Neuromics, Roger N. Rosenberg, MD JAMA Neurol. 2013;():1-2. doi:10.1001/jamaneurol.2013.2854.

JAMA Neurology