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GBA Mutations and E326K in Parkinson’s Disease

Studying their effect on dementia and function

Publish date:: August 25, 2015

GBA mutations and E326K are both associated with a distinct cognitive profile characterized by greater impairment in working memory/executive function and visuospatial abilities in patients with Parkinson’s disease (PD), according to a study of 1,369 patients with PD, including 4.4% mutation carriers and 4.7% E326K carriers. Researchers found that mutation carriers and E326K carriers had:

• Higher prevalence of dementia [mutations odd ratio (OR), 5.1; e326K OR, 6.4].

• Lower performance on Letter-Number Sequencing, Trail Making B-A, and Benton Judgment of Line Orientation.

Citation: Mata IF, Leverenz JB, Weintraub D, et al. GBA variants are associated with a distinct pattern of cognitive deficits in Parkinson's disease. [Published online ahead of print August 21, 2015]. Mov Disord. doi: 10.1002/mds.26359.

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