A 50-year perspective of a family with chromosome 14-linked Alzheimer’s disease

摘要: A Swedish family with two generations suffering from presenile dementia an unusually severe Alzheimer encephalopathy was first reported in 1946. The hypothesis that the disease inherited through a dominant gene is strongly supported by follow-up 50years later of three additional and molecular genetic findings novel presenilin-1 mutation family. pedigree contains six cases well-documented four consecutive generations. studied post-mortem, pronounced involvement central grey structures, such as claustrum, nuclei around third ventricle, thalamic brain stem. There were no vascular lesions little amyloid angiopathy. All affected showed typical temporoparietal symptom pattern other core symptoms Alzheimer’s disease, logoclonia, myoclonic twitchings major motor seizures. Other predominant features psychomotor slowness, increased muscular tension, stiff stooped gait rapid loss weight. convincingly explained consistent cortical structures probably linked to mutation.