Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/5569
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Type: Journal article
Title: Alzheimer's disease with spastic paraparesis and 'cotton wool' plaques: two pedigrees with PS-1 exon 9 deletions
Author: Brooks, W.
Kwok, J.
Kril, J.
Broe, G.
Blumbergs, P.
Tannenberg, A.
Lamont, P.
Hedges, P.
Schofield, P.
Citation: Brain, 2003; 126(4):783-791
Publisher: Oxford Univ Press
Issue Date: 2003
ISSN: 0006-8950
1460-2156
Statement of
Responsibility: 
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.
Keywords: Humans; Alzheimer Disease; Paraparesis, Spastic; Membrane Proteins; Pedigree; Age of Onset; Gene Deletion; Mutation; Exons; Adult; Middle Aged; Presenilin-1
RMID: 0020030288
DOI: 10.1093/brain/awg084
Appears in Collections:Pathology publications

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