Article
Presentation of amyloidosis in carriers of the codon 692 mutation in the amyloid precursor protein gene (APP692).
Brain : a journal of neurology - 1 Oct 2000
Roks G, Van Harskamp F, De Koning I, Cruts M, De Jonghe C, Kumar-Singh S, Tibben A, Tanghe H, Niermeijer M F, Hofman A, Van Swieten J C, Van Broeckhoven C, Van Duijn C M
Abstract excerpt
Several mutations in the amyloid precursor protein (APP) gene may lead to either Alzheimer's disease or cerebral haemorrhage due to congophilic amyloid angiopathy (CAA). A single family is known in which both types of pathology are expressed because of a missense mutation at codon 692 of the APP gene (APP692). Here we describe the clinical and pathological expression of APP692 in eight patients with the mutation....
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