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- Title
Alzheimer's disease with spastic paraparesis and 'cotton wool' plaques: two pedigrees with PS-1 exon 9 deletions.
- Authors
Brooks WS; Kwok JBJ; Kril JJ; Broe GA; Blumbergs PC; Tannenberg AE; Lamont PJ; Hedges P; Schofield PR; Brooks, William S; Kwok, John B J; Kril, Jillian J; Broe, G Anthony; Blumbergs, Peter C; Tannenberg, Anthony E; Lamont, Phillipa J; Hedges, Philippa; Schofield, Peter R
- Abstract
Several pedigrees have recently been reported in which dominantly inherited familial Alzheimer's disease is associated in some family members with spastic paraparesis and non-neuritic 'cotton wool' plaques. Here we report clinical, genetic and neuropathological findings in two further large pedigrees in which this combination of phenotypes is associated with a deletion of exon 9 of the presenilin-1 (PS-1) gene caused by mutations at the splice acceptor site. In both pedigrees, individuals with paraparesis at presentation had a later than average age at onset of symptoms. In addition, one subject with paraparesis had a much less prominent dementia syndrome than his dementia-affected siblings. As PS-1 mutations are almost always associated with a particularly aggressive form of presenile dementia, these findings suggest the existence of a protective or delaying factor in individuals with spastic paraparesis.
- Publication
Brain: A Journal of Neurology, 2003, Vol 126, Issue 4, p783
- ISSN
0006-8950
- Publication type
journal article