Variable phenotype of Alzheimer's disease with spastic paraparesis

Ann Neurol. 2001 Jan;49(1):125-9. doi: 10.1002/1531-8249(200101)49:1<125::aid-ana21>;2-1.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Alzheimer Disease / complications
  • Alzheimer Disease / genetics*
  • Female
  • Humans
  • Male
  • Middle Aged
  • Paraparesis, Spastic / complications
  • Paraparesis, Spastic / genetics*
  • Pedigree
  • Phenotype