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[Hereditary Alzheimer's disease with amyloid angiopathy caused by amyloid precursor protein locus]. / Familiäre Alzheimer-Variante mit Amyloidangiopathie als Ausdruck einer APP-Gen-Duplikation.
Axer, H; Hüge, S; Wilhelm, C; Axer, M; Kunze, A; Reichenbach, J R; Freesmeyer, M; Kohlhase, J; Sauer, H; Bär, K-J.
Afiliación
  • Axer H; Klinik für Psychiatrie und Psychotherapie, Friedrich-Schiller-Universität, Jena, Deutschland. Hubertus.Axer@med.uni-jena.de
Nervenarzt ; 80(1): 62-3, 65-7, 2009 Jan.
Article en De | MEDLINE | ID: mdl-18781290
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.
Asunto(s)

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fragmentos de Péptidos / Péptidos beta-Amiloides / Enfermedad de Alzheimer / Heterocigoto Límite: Humans / Male / Middle aged Idioma: De Revista: Nervenarzt Año: 2009 Tipo del documento: Article Pais de publicación: Alemania

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fragmentos de Péptidos / Péptidos beta-Amiloides / Enfermedad de Alzheimer / Heterocigoto Límite: Humans / Male / Middle aged Idioma: De Revista: Nervenarzt Año: 2009 Tipo del documento: Article Pais de publicación: Alemania