Hereditary Alzheimer's disease with amyloid angiopathy caused by amyloid precursor protein locus

We report a patient with early-onset autosomal dominant dementia. The CSF showed increased levels of tau protein and decreased amyloid beta (ratio 42:40) typical for Alzheimer's disease. Cerebral MRI revealed vascular lesions and white-matter changes around the posterior horns of the ventricles...

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Bibliographic Details
Published inNervenarzt Vol. 80; no. 1; p. 62
Main Authors Axer, H, Hüge, S, Wilhelm, C, Axer, M, Kunze, A, Reichenbach, J R, Freesmeyer, M, Kohlhase, J, Sauer, H, Bär, K-J
Format Journal Article
LanguageGerman
Published Germany 01.01.2009
Subjects
Alzheimer Disease - congenital
Alzheimer Disease - genetics
Amyloid beta-Peptides - genetics
Heterozygote
Humans
Male
Middle Aged
Pedigree
Peptide Fragments - genetics
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Summary:We report a patient with early-onset autosomal dominant dementia. The CSF showed increased levels of tau protein and decreased amyloid beta (ratio 42:40) typical for Alzheimer's disease. Cerebral MRI revealed vascular lesions and white-matter changes around the posterior horns of the ventricles with only moderate atrophy of the brain. Susceptibility-weighted imaging detected multiple small hemorrhagic changes. Gene analysis revealed amyloid precursor protein (APP) locus duplication as the cause of hereditary Alzheimer's dementia. The co-occurrence of CSF changes typical for Alzheimer's disease and MRI findings of cerebral amyloid angiopathy is remarkable, as it is also described for APP locus duplication. In conjunction with a family history suggestive of hereditary dementia, such a constellation should lead to enhanced gene analysis.
ISSN:1433-0407
DOI:10.1007/s00115-008-2565-4