Article
Genetic variability in progranulin contributes to risk for clinically diagnosed Alzheimer disease.
Neurology - 26 Aug 2008
Brouwers N, Sleegers K, Engelborghs S, Maurer-Stroh S, Gijselinck I, van der Zee J, Pickut B A, Van den Broeck M, Mattheijssens M, Peeters K, Schymkowitz J, Rousseau F, Martin J-J, Cruts M, De Deyn P P, Van Broeckhoven C
Abstract excerpt
OBJECTIVE: Loss-of-function mutations in the progranulin gene (PGRN) were identified in frontotemporal lobar degeneration (FTLD) with ubiquitin-immunoreactive neuronal inclusions (FTLD-U). We assessed whether PGRN also contributes to genetic risk for Alzheimer disease (AD) in an extended Belgian AD patient group (n = 779, onset age 74.7 +/- 8.7 years). METHODS: A mutation analysis of the PGRN coding region was...
Topics
- Aged
- Aged, 80 and over
- Alzheimer Disease
- Amino Acid Sequence
- DNA Mutational Analysis
- Female
- Genetic Markers
- Genetic Predisposition to Disease
- Genetic Testing
- Genetic Variation