Article
Variable phenotype of Alzheimer's disease with spastic paraparesis.
Annals of neurology - 1 Jan 2001
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
Abstract excerpt
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...
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