Article
Reduced penetrance of the PSEN1 H163Y autosomal dominant Alzheimer mutation: a 22-year follow-up study.
Alzheimer's research & therapy - 10 May 2018
Thordardottir Steinunn, Rodriguez-Vieitez Elena, Almkvist Ove, Ferreira Daniel, Saint-Aubert Laure, Kinhult-Ståhlbom Anne, Thonberg Håkan, Schöll Michael, Westman Eric, Wall Anders, Eriksdotter Maria, Zetterberg Henrik, Blennow Kaj, Nordberg Agneta, Graff Caroline
Abstract excerpt
BACKGROUND: The range of onset ages within some PSEN1 families is wide, and a few cases of reduced penetrance of PSEN1 mutations have been reported. However, published data on reduced penetrance have been limited to clinical histories, often collected retrospectively and lacking biomarker information. We present a case of reduced penetrance of the PSEN1 H163Y mutation in a carrier prospectively followed for...
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