Hereditary cerebral hemorrhage with amyloidosis associated with the E693K mutation of APP.

[hereditary cerebral hemorrhage with amyloidosis]

To report the clinical , genetic , neuroimaging , and neuropathologic studies of patients with the hereditary cerebral hemorrhage with amyloidosis linked to the APP E 693 K mutation .C ase series . Clinical details and laboratory results were collected by direct evaluation and previous medical records . DNA analysis was carried out in several affected subjects and healthy individuals . Neuropathologic examination was performed in 2 subjects .Southern Lombardy , Italy . Patients Individuals with and without amyloidosis in 4 unrelated Italian families (N = 37 ). Main Outcome Measure Genotype-phenotype relationship .The affected individuals presented with recurrent headache and multiple strokes , followed by epilepsy and cognitive decline in most of them . The disease was inherited with an autosomal dominant trait and segregated with the APP E 693 K mutation . Neuroimaging demonstrated small to large hematomas , subarachnoid bleeding , scars with hemosiderin deposits , small infarcts , and leukoaraiosis . Amyloid-beta immunoreactivity was detected in the wall of leptomeningeal and parenchymal vessels and in the neuropil , whereas phosphorylated tau , neurofibrillary changes , and neuritic plaques were absent .These findings expand the number of APP mutations linked to hereditary cerebral hemorrhage with amyloidosis , reinforcing the link between this phenotype and codon 693 of APP .

Diseases
Validation

Diseases presenting "multiple strokes" symptom

hereditary cerebral hemorrhage with amyloidosis

sneddon syndrome

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