Article
Presenile Alzheimer dementia characterized by amyloid angiopathy and large amyloid core type senile plaques in the APP 692Ala-->Gly mutation.
Acta neuropathologica - 1 Sept 1998
Cras P, van Harskamp F, Hendriks L, Ceuterick C, van Duijn C M, Stefanko S Z, Hofman A, Kros J M, Van Broeckhoven C, Martin J J
Abstract excerpt
Mutations at codons 717 and 670/671 in the amyloid precursor protein (APP) are rare genetic causes of familial Alzheimer's disease (AD). A mutation at codon 693 of APP has also been described as the genetic defect in hereditary cerebral hemorrhage with amyloidosis of the Dutch type (HCHWA-D). We have reported a APP692Ala-->Gly (Flemish) mutation as a cause of intracerebral hemorrhage and presenile dementia...
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