Hemorrhagic stroke associated with the Iowa amyloid precursor protein mutation

Abstract

The authors searched for mutations in the beta-amyloid precursor protein in a Spanish family with a hereditary syndrome of hemorrhagic stroke, dementia, leukoencephalopathy, and occipital calcifications. DNA from two affected members demonstrated the Iowa amyloid precursor protein mutation previously identified as a cause of severe amyloid angiopathy without hemorrhagic stroke. These data point to other genetic or environmental factors that may determine the occurrence of symptomatic hemorrhage in amyloid angiopathy.

A Western Australian kindred with Dutch cerebral amyloid angiopathy

“…This family had an autosomal dominant dementing disease. A Spanish family with the Iowa mutation did reveal hemorrhagic strokes, dementia, leukoencephalopathy and occipital calcification [21].…”

A novel AβPP mutation exclusively associated with cerebral amyloid angiopathy

“…7 The Iowa Asp694Asn mutation causes leukoencephalopathy, cortical calcification, and dementia in one kindred 8 and hemorrhagic stroke in one other. 9 We describe a novel A␤ mutation causing severe CAA and fatal ICH, with amyloid deposition selectively affecting vessel walls, without A␤ parenchymal deposits or neurofibrillary tangles.…”

Iowa-type hereditary cerebral amyloid angiopathy in a Polish family

“…The clinical features of cases with Iowa-type hereditary cerebral amyloid angiopathy included leukoencephalopathy, calcification in the occipital lobes of the brain, and progressive cognitive impairment with aphasia in the sixth and seventh decade of life [3,10]. …”