L. Lannfelt et al., AMYLOID PRECURSOR PROTEIN MUTATION CAUSES ALZHEIMERS-DISEASE IN A SWEDISH FAMILY, Neuroscience letters, 168(1-2), 1994, pp. 254-255
Since the report of a double mutation at codons 670 and 671 of the amy
loid precursor protein (APP) gene identified in two Swedish families w
ith clinically diagnosed Alzheimer's disease (AD), a carrier with deme
ntia has died. Neuropathology confirmed the clinical diagnosis of AD.
Genealogical investigations have confirmed that the two families are r
elated to common founders. Two-point linkage analysis of the mutation
versus the disease in the revised pedigree now gives a lod score of 7.
62.