Publications
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 |
| 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 |