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Article

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

30 May 2013

Abstract excerpt

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...

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PMID: 23727082
DOI: 10.1016/j.jalz.2013.02.011

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