Müller U, Winter P, Graeber MB. Alois Alzheimer's case, Auguste D., did not carry the N141I mutation in PSEN2 characteristic of Alzheimer disease in Volga Germans. Arch Neurol. 2011 Sep;68(9):1210-1, author reply 1211. PubMed.
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Ecole Pratique des Hautes Etudes
Was the first step of any genetic investigation, namely the study of the family history of the proband, undertaken in the case of Auguste D. beyond the succinct notes in her clinical record? Her father died aged 45 (no diagnosis given), her mother aged 64 of pneumonia, her three brothers are "healthy" (their ages not given) and "there is no mental illness in the family." Given the high "a priori" probability of dominant inheritance in instances of what is now called early onset Alzheimer's disease (EOAD), the age at death of both her parents is within two standard deviations for affected EOAD family members (1). Incidentally, we found "pneumonia" as the registered cause of death for a number of EOAD patients in our Calabrian study. There is a 0.8 probability for at least one of her brothers and 0.5 for her daughter to have been a carrier, and a non-negligible one for contemporary descendants to be affected.
A family reconstruction along the lines of what we did for family N (FAD1), which later came to be the index for the PS1 M146L mutation, would certainly be feasible, and interesting, and could resolve the problems raised by Mueller, Winter, and Graeber.
References:
Bruni AC, Montesi MP, Salmon D, Gei G, Perre J, el Hachimi KH, Foncin JF. Alzheimer's disease: a model from the quantitative study of a large kindred. J Geriatr Psychiatry Neurol. 1992 Jul-Sep;5(3):126-31. PubMed.
View all comments by Jean-François FoncinHas anyone studied the descendants of Auguste Deter?
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