Predominant deposition of amyloid-beta 42(43) in plaques in cases of Alzheimer's disease and hereditary cerebral hemorrhage associated with mutations in the amyloid precursor protein gene.

[hereditary cerebral hemorrhage with amyloidosis]

Amyloid (A beta ) deposition was investigated in cases of Alzheimer 's disease and hereditary cerebral hemorrhage with amyloidosis , Dutch type , due to mutations in the amyloid precursor protein (APP ) gene using the end-specific monoclonal antibodies BA 27 and BC 05 that recognize A beta 40 or A beta 42 (43 ), respectively . In cases of APP 717 mutation the predominant A beta species within plaques terminate at A beta 42 (43 ) with relatively little A beta 40 being present . The total amount of A beta deposited as A beta 42 (43 ) is significantly greater than in sporadic Alzheimer 's disease , consistent with the suggestion that this mutation might influence the processing of APP so as to produce more of the highly aggregatable form , A beta 1 -42 . In cases of APP 670 /671 mutation the major peptide in plaques is also A beta 42 (43 ), although the proportion of plaques containing A beta 40 , and the total A beta load is similar to that in sporadic Alzheimer 's disease . As in sporadic Alzheimer 's disease , the vascular amyloid in APP 670 /671 and APP 717 and in cases of hereditary cerebral hemorrhage with amyloidosis , Dutch type is predominantly A beta 40 in this latter disorder , however , parenchymal deposits are exclusively A beta 42 (43 ). Although the various APP mutations may influence the type , quantity , and location of A beta deposited , the predominant , and possibly the initial , species deposited in the brain parenchyma is A beta 42 (43 ).

Diseases
Validation

Diseases presenting "hereditary cerebral hemorrhage" symptom

hereditary cerebral hemorrhage with amyloidosis

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