Yu Chang-En, Marchani Elizabeth, Nikisch Georg, Müller Ulrich, Nolte Dagmar, Hertel Andreas, Wijsman Ellen M, Bird Thomas D
Geriatric Research Education and Clinical Center, Veterans Affairs Puget Sound Health Care System, University of Washington, Seattle, WA 98108, USA.
Arch Neurol. 2010 May;67(5):631-3. doi: 10.1001/archneurol.2010.87.
To connect a new family with early-onset Alzheimer disease (EOAD) in Germany to the American Volga German pedigrees.
Pedigree molecular genetic analysis.
University Medical Centers in Fulda and Giessen, Germany, and in Seattle, Washington.
The families from Fulda, Germany, and the American Volga German families with EOAD share the same N141I PSEN2 mutation on an identical haplotypic background. This establishes that the N141I mutation occurred prior to emigration of the families from the Hesse region to Russia in the 1760s, and documents that relatives of the original immigrant families are presently living in Germany with the mutation and the disease.
A family with the N141I mutation in PSEN2 that presently lives in Germany has been connected to the haplotype that carries the same mutation in pedigrees descended from the Volga Germans. This raises the possibility that the original patient with Alzheimer disease (Auguste D.), who had EOAD and lived in this same region of Germany, may also have had the PSEN2 N141I mutation.
将德国一个患有早发性阿尔茨海默病（EOAD）的新家族与美国伏尔加德意志人谱系联系起来。
谱系分子遗传学分析。
德国富尔达和吉森以及华盛顿州西雅图的大学医学中心。
来自德国富尔达的家族与患有EOAD的美国伏尔加德意志人家族在相同的单倍型背景上共享相同的N141I PSEN2突变。这证实了N141I突变发生在这些家族于18世纪60年代从黑森地区移民到俄罗斯之前，并证明了原始移民家族的亲属目前在德国携带该突变并患有该疾病。
目前居住在德国的一个携带PSEN2基因N141I突变的家族已与伏尔加德意志人后裔谱系中携带相同突变的单倍型联系起来。这增加了可能性，即患有EOAD且居住在德国同一地区的阿尔茨海默病原始患者（奥古斯塔·D.）也可能携带PSEN2基因N141I突变。
