Missense mutations in the genes encoding amyloid precursor protein (APP), presenilin 1 (PSEN1) and presenilin 2 (PSEN2) have been found to cause some forms of autosomal dominant early-onset Alzheimer disease (ADEOAD). Autosomal dominant point mutations in the APP gene are associated with ¥â-amyloid peptide (A©¬) -related cerebral amyloid angiopathy (CAA) and Alzheimer disease (AD). Duplications of the APP locus on chromosome 21 have recently been reported to be associated with a phenotype similar to that caused by point mutations in the APP gene, including progressive AD and strokes and ICH of variable frequency.[2-4] The neuropathological findings have been consistent with a diagnosis of definite AD according to the Consortium to Establish a Registry for Alzheimer¡¯s Disease (CERAD). The most prominent feature in all cases has been severe CAA in the leptomeningeal vessels together with superficial and deep intraparenchymatous small arteries, capillaries and venules.
- Alzheimers disease
- cerebral amyloid angiopathy
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