Mutation analysis of S182 (presenilin-I) in patients with familial Alzheimer's disease and its biological function

Nihon Ronen Igakkai zasshi. Japanese journal of geriatrics
M Ikeda

Abstract

We report the clinical and neuropathologic phenotypes associated with two missence mutations in the presenilin I (PS I) gene in Japanese patients with early-onset familial Alzheimer's disease. The AM/JPN1 family showed a missense mutation (C-->T) which is predicted to cause an Alanine to Valine missense substitution at codon 260 (A260V). The disease in the members of this family had a mean age-of-onset of 40.3 years old (the range of disease is 8-19 years). Neuropathologic studies of two members of AM/JPN1 pedigree showed wide-spread senile plaques, neurofibrillary tangles, and neuronal loss, as well abundant perivascular subpial amyloid deposits in the Virchow-Robin spaces and Pick-like intraneuronal inclusions in the dentate gyrus. In the second pedigree transmitting a C-->T nucleotide substitution leading to the missense mutation of Alanine to Valine at codon 285 (A285V), the disease had a later age of onset (mean, 51 years) but a more rapid course. Comparison of the disease phenotypes associated with other missense mutations in exon 9 of PSI reveals no obvious clinical or pathological phenotype that uniquely distinguishes Alzheimer's disease associated with PS I mutations from other early-onset familial Alzheimer's disease....Continue Reading

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