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APP locus duplication in a Finnish family with dementia and intracerebral haemorrhage
  1. Anne Rovelet-Lecrux
  1. The INSERM U614, IFRMP, Faculty of Medicine, Rouen, France
    1. Thierry Frebourg
    1. The INSERM U614, IFRMP, Faculty of Medicine, Rouen, France
      1. Hannu Tuominen
      1. Department of Pathology, University of Oulu, Finland
        1. Kari Majamaa
        1. Department of Neurology, University of Turku, Finland
          1. Dominique Campion
          1. The INSERM U614, IFRMP, Faculty of Medicine, Rouen, France
            1. Anne M Remes (anne.remes{at}oulu.fi)
            1. Department of Neurology, University of Oulu, Finland

              Abstract

              Missense mutations in the genes encoding amyloid precursor protein (APP), presenilin 1 (PSEN1) and presenilin 2 (PSEN2) have been found to cause some forms of autosomal dominant early-onset Alzheimer disease (ADEOAD). Autosomal dominant point mutations in the APP gene are associated with ¥â-amyloid peptide (A©¬) -related cerebral amyloid angiopathy (CAA) and Alzheimer disease (AD).[1] Duplications of the APP locus on chromosome 21 have recently been reported to be associated with a phenotype similar to that caused by point mutations in the APP gene, including progressive AD and strokes and ICH of variable frequency.[2-4] The neuropathological findings have been consistent with a diagnosis of definite AD according to the Consortium to Establish a Registry for Alzheimer¡¯s Disease (CERAD). The most prominent feature in all cases has been severe CAA in the leptomeningeal vessels together with superficial and deep intraparenchymatous small arteries, capillaries and venules.

              • APP
              • Alzheimers disease
              • cerebral amyloid angiopathy
              • duplication
              • genetics

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