Alzheimer's disease with spastic paraparesis and 'cotton wool' plaques: two pedigrees with PS-1 exon 9 deletions
| Autor: | John B.J. Kwok, Peter R. Schofield, A. E. G. Tannenberg, G. Anthony Broe, William S. Brooks, Peter C. Blumbergs, Jillian J. Kril, Phillipa J. Lamont, Philippa Hedges |
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| Rok vydání: | 2003 |
| Předmět: |
Adult
Neuropathology Biology Exon Degenerative disease Alzheimer Disease medicine Presenilin-1 Dementia Humans Cotton wool plaques Spasticity Age of Onset Genetics Membrane Proteins Exons Middle Aged medicine.disease Pedigree Mutation Paraparesis Spastic Neurology (clinical) Alzheimer's disease medicine.symptom Age of onset Gene Deletion |
| Zdroj: | Brain : a journal of neurology. 126(Pt 4) |
| ISSN: | 0006-8950 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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