Article
A novel presenilin 1 L166H mutation in a pseudo-sporadic case of early-onset Alzheimer's disease.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Dec 2005
Pantieri R, Pardini M, Cecconi M, Dagna-Bricarelli F, Vitali A, Piccini A, Russo R, Borghi R, Tabaton M
Abstract excerpt
We report a 44-year-old woman presenting at 33 years with memory loss, followed by progressive dementia. Her family history was negative for dominant genetic disorders at high penetrance. Analysis of presenilin-1 gene revealed a missense mutation at codon 166, leading to the substitution from leucine to histidine. The mutation occurs in the third transmembrane domain of presenilin-1, at the position of two...
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