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Alzheimer's disease with spastic paraparesis and 'cotton wool' plaques: two pedigrees with PS-1 exon 9 deletions


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.

Type Journal
ISBN 0006-8950 (Print)
Authors Brooks, W. S.;Kwok, J. B.;Kril, J. J.;Broe, G. A.;Blumbergs, P. C.;Tannenberg, A. E.;Lamont, P. J.;Hedges, P.;Schofield, P. R. :
Publisher Name BRAIN
Published Date 2003-01-01
Published Volume 126
Published Issue Pt 4
Published Pages 783-91
Status Published in-print
URL link to publisher's version