Hereditary cerebral hemorrhage with amyloidosis dutch type (AbPP 693): decreased plasma amyloid-b 42 concentration

• Published in: Neurobiology of disease 2003-12, Vol.14 (3), p.619-623
• Main Authors: Bornebroek, Marjolijn, De Jonghe, Chris, Haan, Joost, Kumar-Singh, Samir, Younkin, Steve, Roos, Raymund, Van Broeckhoven, Christine
• Format: Article
• Language: English
• ISSN: 0969-9961
• DOI: 10.1016/j.nbd.2003.08.019

Hereditary cerebral hemorrhage with amyloidosis-Dutch type (HCHWA-D) is a rare autosomal dominant disorder caused by an amyloid-b precursor protein (AbPP) 693 mutation that clinically leads to recurrent hemorrhagic strokes and dementia. The disease is pathologically characterised by the deposition of Ab in cerebral blood vessels and as plaques in the brain parenchyma. This study measured the Ab40 and Ab42 concentration in plasma of Dutch AbPP693 mutation carriers and controls. We found that the Ab40 concentration was not different between AbPP693 mutation carriers and controls. However, the Ab42 concentration was significantly decreased in the mutation carriers. No correlation exists between the APOE4 allele and the plasma of Ab40 and Ab42 levels in HCHWA-D patients. This finding contrasted with the increased concentrations found in Alzheimer's disease. Therefore it is suggested that the Dutch AbPP693 mutation located within the Ab coding region of the AbPP gene has a different effect not only on clinical and pathological expression but also on Ab processing.