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Correspondence |

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

Ulrich Müller, MD, PhD; Pia Winter, MLT; Manuel B. Graeber, MD, PhD, FRCPath
Arch Neurol. 2011;68(9):1210-1211. doi:10.1001/archneurol.2011.218.
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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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Graphic Jump Location

Figure. A, Amplification of exon 5 of the DNA of Auguste D. Lane 1 includes the first 45 cycles of amplification (DNA); lane 2, the first 45 cycles of amplification (H2O; control); lane 3, 35 nested cycles (DNA); and lane 4, 35 nested cycles (H2O; control). B, Sequence chromatogram of exon 5 of PSEN2 in Auguste D. Note the wild-type sequence (A) at position c.422 of the gene. The reference sequence of exon 5 is given in small letters above. bp indicates base pairs.




September 1, 2011
Thomas D. Bird, MD; Chang-En Yu, PhD
Arch Neurol. 2011;68(9):1210-1211. doi:10.1001/archneurol.2011.219.
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