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Variable phenotype of Alzheimer's disease with spastic paraparesis

Abstract

A variant form of Alzheimer's disease (AD), in which spastic paraparesis (SP) precedes dementia, is characterised by large, noncored, weakly neuritic Abeta-amyloid plaques resembling cotton wool balls and is caused by genomic deletion of presenilin 1 exon 9. A pedigree with a 5.9 kb exon 9 deletion shows a phenotypic spectrum including subjects with typical AD or with SP and numerous cotton wool plaques. In SP subjects, dementia onset is delayed and modified. This phenotypic variation suggests that modifying factors are associated with exon 9 deletions.

Type Journal
ISBN 0364-5134 (Print)
Authors Smith, M. J.;Kwok, J. B.;McLean, C. A.;Kril, J. J.;Broe, G. A.;Nicholson, G. A.;Cappai, R.;Hallupp, M.;Cotton, R. G.;Masters, C. L.;Schofield, P. R.;Brooks, W. S. :
Publisher Name ANNALS OF NEUROLOGY
Published Date 2001-01-01 00:00:00
Published Volume 49
Published Issue 1
Published Pages 125-9
Status Published in-print
URL link to publisher's version http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=11198283
OpenAccess link to author's accepted manuscript version https://publications.gimr.garvan.org.au/open-access/1511