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https://hdl.handle.net/2440/5569
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dc.contributor.author | Brooks, W. | - |
dc.contributor.author | Kwok, J. | - |
dc.contributor.author | Kril, J. | - |
dc.contributor.author | Broe, G. | - |
dc.contributor.author | Blumbergs, P. | - |
dc.contributor.author | Tannenberg, A. | - |
dc.contributor.author | Lamont, P. | - |
dc.contributor.author | Hedges, P. | - |
dc.contributor.author | Schofield, P. | - |
dc.date.issued | 2003 | - |
dc.identifier.citation | Brain: a journal of neurology, 2003; 126(4):783-791 | - |
dc.identifier.issn | 0006-8950 | - |
dc.identifier.issn | 1460-2156 | - |
dc.identifier.uri | http://hdl.handle.net/2440/5569 | - |
dc.description.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. | - |
dc.description.statementofresponsibility | 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 | - |
dc.language.iso | en | - |
dc.publisher | Oxford Univ Press | - |
dc.source.uri | http://dx.doi.org/10.1093/brain/awg084 | - |
dc.subject | Humans | - |
dc.subject | Alzheimer Disease | - |
dc.subject | Paraparesis, Spastic | - |
dc.subject | Membrane Proteins | - |
dc.subject | Pedigree | - |
dc.subject | Age of Onset | - |
dc.subject | Gene Deletion | - |
dc.subject | Mutation | - |
dc.subject | Exons | - |
dc.subject | Adult | - |
dc.subject | Middle Aged | - |
dc.subject | Presenilin-1 | - |
dc.title | Alzheimer's disease with spastic paraparesis and 'cotton wool' plaques: two pedigrees with PS-1 exon 9 deletions | - |
dc.type | Journal article | - |
dc.identifier.doi | 10.1093/brain/awg084 | - |
pubs.publication-status | Published | - |
Appears in Collections: | Aurora harvest Pathology publications |
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