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. Author manuscript; available in PMC: 2011 Mar 10.
Published in final edited form as: Neurologist. 2009 Mar;15(2):80–86. doi: 10.1097/NRL.0b013e318187e76b

TABLE 1.

Alzheimer Disease Genes Discussed in This Review

Gene/Protein/Chromosomal Location Mode of Inheritance Penetrance Age of Onset No. Mutations/No. Families* Availability of Clinical Testing
APP/amyloid precursor protein/21q21.3 Autosomal Dominant Complete 40–60 28 in 76 families Yes (limited)
PSEN1/presenilin1/14q24.3 Autosomal Dominant Complete 30–60 (generally before age 65) 165 in 354 families Yes
PSEN2/presenilin2/1q31–42 Autosomal Dominant Incomplete 40–75 10 in 18 families Yes (limited)
APOE/apolipoproteinE/19q13.32 Complex (susceptibility) n/a Late onset Not a mutation e4 polymorphism associated with increased risk Yes (recommended for symptomatic only)
SORL1/neuronal sortilin-related receptor/11q23 Complex/susceptibility? n/a Late onset n/a No
GAB2/11q14 Complex/susceptibility? n/a Late onset n/a No