Variable phenotype of Alzheimer's disease with spastic paraparesis

Margaret J. Smith, John B.J. Kwok, Catriona A. McLean, Jillian J. Kril, G. Anthony Broe, Garth A. Nicholson, Roberto Cappai, Marianne Hallupp, Richard G.H. Cotton, Colin L. Masters, Peter R. Schofield*, William S. Brooks

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

82 Citations (Scopus)


A variant form of Alzheimer's disease (AD), in which spastic paraparesis (SP) precedes dementia, is characterised by large, noncored, weakly neuritic Aβ-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.

Original languageEnglish
Pages (from-to)125-129
Number of pages5
JournalAnnals of Neurology
Issue number1
Publication statusPublished - 2001
Externally publishedYes


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