Novel insertional presenilin 1 mutation causing Alzheimer disease with spastic paraparesis.

Update item information
Publication Type Journal Article
School or College School of Medicine
Department Neurology
Creator Foster, Norman L.
Other Author Moretti, P.; Lieberman, A. P.; Wilde, E. A.; Giordani, B. I.; Kluin, K. J.; Koeppe, R. A.; Minoshima, S.; Kuhl, D. E.; Seltzer, W. K.
Title Novel insertional presenilin 1 mutation causing Alzheimer disease with spastic paraparesis.
Date 2004-05-25
Description A four-generation pedigree exhibiting early-onset autosomal dominant Alzheimer disease (AD) with spastic paraplegia, dystonia, and dysarthria due to a novel 6-nucleotide insertional mutation in exon 3 of the presenilin 1 gene (PS1) is described. Serial examinations, PET scans, and autopsy revealed that the mutation in this highly conserved portion of PS1 causes an aggressive dementia that maintains the usual regional hierarchy of disease pathology while extending abnormalities into more widespread brain areas than typically seen in AD.
Type Text
Publisher AAN Enterprises, Inc.
Volume 62
Issue 10
First Page 1865
Last Page 1868
Subject Aged, 80 and over; Membrane Proteins; Neuropsychological Tests
Subject MESH Mutagenesis, Insertional; Alzheimer Disease; Paraparesis, Spastic
Language eng
Bibliographic Citation Neurology. 2004 May 25;62(10):1865-8. Novel insertional presenilin 1 mutation causing Alzheimer disease with spastic paraparesis. Moretti P, Lieberman AP, Wilde EA, Giordani BI, Kluin KJ, Koeppe RA, Minoshima S, Kuhl DE, Seltzer WK, Foster NL. Retrieved April 15, 2007 from http://www.neurology.org/cgi/content/full/62/10/1865.
Rights Management Copyright © 2004 AAN Enterprises, Inc. All rights reserved.
Format Medium application/pdf
Identifier ir-main,931
ARK ark:/87278/s6hd8dc7
Setname ir_uspace
Date Created 2012-06-13
Date Modified 2012-06-13
ID 707544
Reference URL https://collections.lib.utah.edu/ark:/87278/s6hd8dc7