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|Title:||Alzheimer's disease with spastic paraparesis and 'cotton wool' plaques: two pedigrees with PS-1 exon 9 deletions|
|Citation:||Brain, 2003; 126(4):783-791|
|Publisher:||Oxford Univ Press|
|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|
|Appears in Collections:||Pathology publications|
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