AMYLOID PRECURSOR PROTEIN MUTATION CAUSES ALZHEIMERS-DISEASE IN A SWEDISH FAMILY

Citation
L. Lannfelt et al., AMYLOID PRECURSOR PROTEIN MUTATION CAUSES ALZHEIMERS-DISEASE IN A SWEDISH FAMILY, Neuroscience letters, 168(1-2), 1994, pp. 254-255
Citations number
5
Categorie Soggetti
Neurosciences
Journal title
ISSN journal
03043940
Volume
168
Issue
1-2
Year of publication
1994
Pages
254 - 255
Database
ISI
SICI code
0304-3940(1994)168:1-2<254:APPMCA>2.0.ZU;2-D
Abstract
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.