[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 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.
Axer
H
H
Klinik für Psychiatrie und Psychotherapie, Friedrich-Schiller-Universität, Jena, Deutschland. Hubertus.Axer@med.uni-jena.de
Hüge
S
S
Wilhelm
C
C
Axer
M
M
Kunze
A
A
Reichenbach
J R
JR
Freesmeyer
M
M
Kohlhase
J
J
Sauer
H
H
Bär
K-J
KJ
D000544:Alzheimer Disease / Q000151:congenital* / Q000235:genetics*; D016229:Amyloid beta-Peptides / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010446:Peptide Fragments / Q000235:genetics*
D016229:Amyloid beta-Peptides; D010446:Peptide Fragments; C538897:amyloid beta-protein (40-42)
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