Parkinsonism and distinct dementia patterns in a family with the MAPT R406W mutation.

ABSTRACT:

Background

The Arg406Trp (R406W) missense mutation in the microtubule-associated protein-tau gene (MAPT) is a known cause of early-onset dementia. Various dementia phenotypes have been described, including frontotemporal dementia (FTD), FTD with parkinsonism, and early-onset Alzheimer disease (EOAD)-like presentations.

Methods

Using whole-exome capture with subsequent sequencing, we identified the R406W mutation in a family with multiple individuals with clinically diagnosed EOAD, in a pattern suggesting autosomal dominant inheritance. We reevaluated all available family members clinically.

Results

Each of the affected individuals had a course meeting clinical criteria for EOAD. Two distinct disease trajectories were apparent: one rapidly progressive, and the other lo

SUBMITTER: Carney RM 

PROVIDER: S-EPMC3762928 | biostudies-literature | 2014 May

REPOSITORIES: biostudies-literature