Alzheimer's Disease Research Today is a free monthly online journal that collates and summarizes the latest research about Alzheimer's Disease, including details on diagnosis, memory loss, heredity, treatment, medication.

A presenilin-1 mutation (T245P) in transmembrane domain 6 causes early onset Alzheimer's disease.

Edwards-Lee T, Wen J, Bell J, Hardy J, Chung J, Momeni P

Los Angeles Biomedical Research Institute, Harbor-UCLA Medical Center, 1124 West Carson Street, Torrance, CA 90502, USA.

We report a presenilin-1 mutation (T245P) in a Japanese-American family with autosomal dominant Alzheimer's disease with an onset age in the early 40s. The early clinical features were remarkable for their purely amnestic nature. The position of the mutation is in the transmembrane domain that harbors the aspartic acid residue which is believed to be part of the active site of gamma-secretase.

Published 25 April 2006 in Neurosci Lett, 398(3): 251-2.
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