Article
The Arctic AβPP mutation leads to Alzheimer's disease pathology with highly variable topographic deposition of differentially truncated Aβ.
Acta neuropathologica communications - 10 Sept 2013
Kalimo Hannu, Lalowski Maciej, Bogdanovic Nenad, Philipson Ola, Bird Thomas D, Nochlin David, Schellenberg Gerard D, Brundin Rosemarie, Olofsson Tommie, Soliymani Rabah, Baumann Marc, Wirths Oliver, Bayer Thomas A, Nilsson Lars N G, Basun Hans, Lannfelt Lars, Ingelsson Martin
Abstract excerpt
BACKGROUND: The Arctic mutation (p.E693G/p.E22G)fs within the β-amyloid (Aβ) region of the β-amyloid precursor protein gene causes an autosomal dominant disease with clinical picture of typical Alzheimer's disease. Here we report the special character of Arctic AD neuropathology in four deceased patients. RESULTS: Aβ deposition in the brains was wide-spread (Thal phase 5) and profuse. Virtually all parenchymal...
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