Nature Genetics
1, 218 - 221 (1992)
doi:10.1038/ng0692-218
Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the  −amyloid precursor protein geneLydia Hendriks1, Cornelia M. van Duijn2, Patrick Cras3, Marc Cruts1, Wim Van Hul1, Frans van Harskamp4, Andrew Warren5, Melvin G. McInnis5, 6, Stylianos E. Antonarakis6, Jean-Jacques Martin3, Albert Hofman2
& Christine Van Broeckhoven1
1Laboratory of Neurogenetics, Department of Biochemistry, Born Bunge Foundation, University of Antwerp (UIA), Universiteitsplein 1, B-2610 Antwerpen, Belgium
2Department of Epidemiology and Biostatistics, Erasmus University Medical School, 3000 DR Rotterdam, The Netherlands
3Laboratories of Neurobiology and Neuropathology, Department of Medicine, Born Bunge Foundation, University of Antwerp (UIA), Universiteitsplein 1, B-2610 Antwerpen, Belgium
4Department of Neurology, Academical Hospital Dijkzigt, 3000 DR Rotterdam, The Netherlands
5Department of Psychiatry, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
6Department of Pediatrics, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA Several families with an early−onset form of familial Alzheimer's disease have been found to harbour mutations at a specific codon (717) of the gene for the  −amyloid precursor protein (APP) on chromosome 21. We now report, a novel base mutation in the same exon of the APP gene which co−segregates in one family with presenile dementia and cerebral haemorrhage due to cerebral amyloid angiopathy. The mutation results in the substitution of alanine into glycine at codon 692. These results suggest that the clinically distinct entities, presenile dementia and cerebral amyloid angiopathy, can be caused by the same mutation in the APP gene.
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