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

Human Genetics
L GustafsonM Abrahamson

Abstract

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

Citations

May 20, 2003·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·A J Larner, D G du Plessis
May 4, 2006·The Journal of Clinical Psychiatry·Andreas PapassotiropoulosEric M Reiman
Nov 28, 2020·Neuroscience·Jesús Avila, George Perry

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