Presenilin 1 Glu318Gly polymorphism: interpret with caution

JS Goldman, JK Johnson, K McElligott… - Archives of …, 2005 - jamanetwork.com
Background The significance of the presenilin 1 (PSEN1) Glu318Gly polymorphism has
been described as either a causal mutation with reduced penetrance or a benign
polymorphism. When this polymorphism is found in a symptomatic person with a family
history of dementia, counseling on recurrence risk becomes very problematic. Objective To
demonstrate that thePSEN1Glu318Gly polymorphism should be interpreted cautiously.
Design Case histories of 2 patients with presenile dementia and family histories of dementia …