title: 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.
authors.affiliation: Department of Pathology, The University of Melbourne, New South Wales, Australia.
authors.forename: M J
authors.initials: MJ
authors.lastname: Smith
authors.forename: J B
authors.initials: JB
authors.lastname: Kwok
authors.forename: C A
authors.initials: CA
authors.lastname: McLean
authors.forename: J J
authors.initials: JJ
authors.lastname: Kril
authors.forename: G A
authors.initials: GA
authors.lastname: Broe
authors.forename: G A
authors.initials: GA
authors.lastname: Nicholson
authors.forename: R
authors.initials: R
authors.lastname: Cappai
authors.forename: M
authors.initials: M
authors.lastname: Hallupp
authors.forename: R G
authors.initials: RG
authors.lastname: Cotton
authors.forename: C L
authors.initials: CL
authors.lastname: Masters
authors.forename: P R
authors.initials: PR
authors.lastname: Schofield
authors.forename: W S
authors.initials: WS
authors.lastname: Brooks
mesh_terms: D000328:Adult; D000544:Alzheimer Disease / Q000150:complications / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D020336:Paraparesis, Spastic / Q000150:complications / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype