https://www.selleckchem.com/pr....oducts/bsj-4-116.htm
We report a patient with sporadic Alzheimer's disease with onset in his twenties found to carry the de novo Pro436Gln mutation in the presenilin 1 gene (PS1). Clinical phenotype featured a posterior cortical syndrome with severe visual agnosia and mild limb spasticity with brisk reflexes. Brain MRI and FDG-PET scans revealed severe parieto-occipital atrophy/hypometabolism. Cerebrospinal fluid biomarkers showed a decrease in Aβ 42 level and Aβ 42/40 ratio, increased phospho-tau, and normal total tau. Amyloid PET identified a very high