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Foster, Norman L. | Novel insertional presenilin 1 mutation causing Alzheimer disease with spastic paraparesis. | A four-generation pedigree exhibiting early-onset autosomal dominant Alzheimer disease (AD) with spastic paraplegia, dystonia, and dysarthria due to a novel 6-nucleotide insertional mutation in exon 3 of the presenilin 1 gene (PS1) is described. Serial examinations, PET scans, and autopsy revealed t... | Older people, 80 and over; Membrane Proteins; Neuropsychological Tests | 2004-05-25 |
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