Circumstantial evidence suggests first identified Alzheimer disease patient carried N141I presenilin-2 mutation

Writing the latest pages of an anthropological mystery, scientists propose in this month's Archives of Neurology that it is highly possible that Auguste Deter, the first identified Alzheimer disease patient, carried the N141I presenilin-2 mutation—the same one as in present-day U.S. families descended from German emigrants who settled near the river Volga in Russia.

Based on new molecular genetic data, Thomas Bird, University of Washington, Seattle, and colleagues suggest that Volga German descendents and a present-day German family living in Deter's home state, Hesse, share this PS2 mutation, as well as a chunk of chromosome 1 surrounding it. "This means it is extremely likely they have a common ancestor," Bird told ARF. "We think there is interesting circumstantial evidence—historical, social, geographic, and genetic—that Alzheimer's original patient might also have had this mutation."