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Dutch hereditary cerebral amyloid angiopathy: Structural lesions and apolipoprotein E genotype
Author(s) -
Bornebroek M.,
Haan J.,
Van Duinen S. G.,
MaatSchieman M. L. C.,
Van Buchem M. A.,
Bakker E.,
Van Broeckhoven C.,
Roos R. A. C.
Publication year - 1997
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410410523
Subject(s) - cerebral amyloid angiopathy , hyperintensity , pathology , apolipoprotein e , amyloidosis , magnetic resonance imaging , medicine , pathological , amyloid (mycology) , intracerebral hemorrhage , dementia , angiopathy , white matter , disease , endocrinology , radiology , subarachnoid hemorrhage , diabetes mellitus
Hereditary cerebral hemorrhage with amyloidosis‐Dutch type is caused by a mutation at codon 693 of the β amyloid precursor protein gene. The disease is clinically characterized by strokes and dementia. In addition to cerebral plaques, cerebral amyloid angiopathy is the pathological hallmark. We investigated the correlation between radiological (white matter hyperintensities and focal lesions on magnetic resonance images) and pathological lesions (cerebrovascular amyloid angiopathy and plaques) and the apolipoprotein E genotype in patients with the disease. Twenty‐five patients were studied using magnetic resonance imaging, and brain tissue from 8 patients was studied histopathologically. Neither the white matter hyperintensity scores nor the number of focal lesions on magnetic resonance images were associated with the presence of an ϵ4 allele. Nor was a correlation found between the number and type of plaques and the apolipoprotein E genotype. All patients had severe amyloid angiopathy in all cortical areas investigated. This study showed that the apolipoprotein E genotype does not modulate amyloidrelated structural lesions in hereditary cerebral hemorrhage with amyloidosis of the Dutch type.