@article {Brooks:April 2003:0006-8950:783, author = "Brooks W.S.", author = "Kwok J.B.J.", author = "Kril J.J.", author = "Broe G.A.", author = "Blumbergs P.C.", author = "Tannenberg A.E.", author = "Lamont P.J.", author = "Hedges P.", author = "Schofield P.R.", title = "Alzheimer's disease with spastic paraparesis and `cotton wool' plaques: two pedigrees with PS-1 exon 9 deletions", journal = "Brain", volume = "126", year = "April 2003", 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.

", pages = "783-791(9)", url = "http://www.ingentaconnect.com/content/oup/brainj/2003/00000126/00000004/art00783" }