Autopsy-Confirmed Familial Early-Onset Alzheimer Disease Caused by the L153V Presenilin 1 Mutation

• Published in: Archives of neurology (Chicago) Vol. 58; no. 6; pp. 953 - 958
• Main Authors: Janssen, John C, Lantos, Peter L, Fox, Nicholas C, Harvey, Richard J, Beck, Jonathan, Dickinson, Andrew, Campbell, Tracey A, Collinge, John, Hanger, Diane P, Cipolotti, Lisa, Stevens, John M, Rossor, Martin N
• Format: Journal Article
• Language: English
• Published: Chicago, IL American Medical Association 01.06.2001
• Subjects: Adult; Aged; Alzheimer Disease - genetics; Alzheimer Disease - pathology; Amyloid beta-Peptides - metabolism; Biological and medical sciences; Brain - pathology; Confidence Intervals; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Female; Humans; Lewy Bodies - pathology; Male; Medical sciences; Membrane Proteins - genetics; Middle Aged; Mutation, Missense - genetics; Neurology; Pedigree; Plaque, Amyloid - pathology; Presenilin-1; Human; Nervous system diseases; Alzheimer disease; Family study; Presenilin; Cerebral disorder; Pathology; Age of onset; Gene; Autopsy; Etiology; Central nervous system disease; Early; Degenerative disease; Mutation

BACKGROUND Three affected individuals are described from a small English kindred with early-onset autosomal dominant familial Alzheimer disease (FAD) caused by a leucine-to-valine change at codon 153 (L153V) of the presenilin 1 (PSEN1) gene. METHODS Clinical information on the pedigree was collected...