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https://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: a journal of neurology, 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 |
DOI: | 10.1093/brain/awg084 |
Published version: | http://dx.doi.org/10.1093/brain/awg084 |
Appears in Collections: | Aurora harvest Pathology publications |
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