Article
A novel mutation (Thr116Ile) in the presenilin 1 gene in a patient with early-onset Alzheimer's disease.
European journal of neurology - 1 Aug 2004
La Bella V, Liguori M, Cittadella R, Settipani N, Piccoli T, Manna I, Quattrone A, Piccoli F
Abstract excerpt
We report a novel presenilin 1 (PSN1) mutation (Thr116Ile) in a woman with early onset Alzheimer's disease (AD). This mutation was not found in 100 healthy controls, indicating that this is not a common polymorphism. The patient presented with forgetfulness at age 45, followed over the next 3 years by a worsening of the memory loss and frequent episodes of confusion and spatial disorientation. Neuroimaging...
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