A novel pathogenic PSEN1 mutation in a family with Alzheimer's disease: phenotypical and neuropathological features.

摘要: We report a novel presenilin1 (PSEN1) gene mutation (I143 V) in four-generation family with Alzheimer's disease. Clinical, molecular, and neuropathological examinations were performed on index patient; thirteen affected subjects also identified. The patient presented at 55 personality changes, apathy, reduction of verbal fluency, temporal spatial disorientation. At 68, she showed visual hallucinations; blurred language, rigidity. She became bedridden died 75. A codon 143 was found PSEN1 gene, changing isoleucine to valine. brain severe atrophy the frontal lobes. Parenchymal amyloid-β (Aβ) deposits abundant, diffuse grey structures contained Aβ42, but very few Aβ40. Amyloid angiopathy absent. Neurofibrillary changes severe. Our study confirms that mutations can be associated unusual phenotypes. peculiarity age onset (not early), long course, involvement, together rather complete absence Aβ40 amyloid angiopathy, widen spectrum PSEN1-linked