Sep 2011

Alois Alzheimer's Case, Auguste D., Did Not Carry the N141I Mutation in PSEN2 Characteristic of Alzheimer Disease in Volga Germans

Author Affiliations

Author Affiliations: Institute for Human Genetics, Justus-Liebig-University Giessen, Giessen, Germany (Drs Müller and Ms Winter); and Brain and Mind Research Institute, University of Sydney, Sydney, Australia (Dr Graeber).

Arch Neurol. 2011;68(9):1210-1211. doi:10.1001/archneurol.2011.218

Autosomal dominant Alzheimer disease (AD) is common in Volga Germans (VGs). The VGs descend from people who, in the 1760s, emigrated from the Hesse area of Germany to the southern Volga region of Russia. During the late 19th and early 20th centuries many VGs emigrated to the United States. Onset of AD in this group is relatively early (age 50-65 years).1 Histopathology of the brain of affected persons reveals numerous neurofibrillary tangles and amyloid plaques and is thus characteristic of AD. The AD in VGs is caused by the specific mutation N141I in the gene PSEN2.2 Although additional mutations have been found in PSEN2 in familial early-onset AD, the N141I mutation has been only identified in VGs. Recently, the N141I mutation (c.422A>T) was found in a German patient with early-onset AD who lives in Hesse. This patient had the same haplotype at PSEN2 as the VGs, indicating that this patient belongs to the same population as the VGs.3

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