In The Thousand Mile Stare, I describe a frightening scene in which my sister threatened to kill my brother-in-law because she thought he was a stranger who broke into the house. This is only one of a number of incidents in which paranoid behavior has been exhibited by members of my family while in the throes of living with Alzheimer's. I also described how one of my uncles, who was institutionalized as was Frau D., lay curled up in the fetal position, incontinent and unresponsive in the final stage of his disease. This also happened to more than one of my family members. These descriptions are quite similar to Dr. Alzheimer's observations of his patient, who did not trust, and was at times, afraid of her family, and reacted in a paranoid fashion to her caregivers. And, she was described in the final stage of her disease as lying in her bed, curled in the fetal position, incontinent and unresponsive. I find the similarity of the descriptions of Frau D.'s suffering uncannily similar to the suffering of my family, and the age of onset of her symptoms and death are precisely...  Read more

In The Thousand Mile Stare, I describe a frightening scene in which my sister threatened to kill my brother-in-law because she thought he was a stranger who broke into the house. This is only one of a number of incidents in which paranoid behavior has been exhibited by members of my family while in the throes of living with Alzheimer's. I also described how one of my uncles, who was institutionalized as was Frau D., lay curled up in the fetal position, incontinent and unresponsive in the final stage of his disease. This also happened to more than one of my family members. These descriptions are quite similar to Dr. Alzheimer's observations of his patient, who did not trust, and was at times, afraid of her family, and reacted in a paranoid fashion to her caregivers. And, she was described in the final stage of her disease as lying in her bed, curled in the fetal position, incontinent and unresponsive. I find the similarity of the descriptions of Frau D.'s suffering uncannily similar to the suffering of my family, and the age of onset of her symptoms and death are precisely that of my father and of many other members of my family.

And one more personal observation, even more subjective. The first time I saw a picture of Frau D., I thought I was looking at the picture of a relative. The cheekbones and eyes appear very similar to the facial construction of my father's generation that was 100 percent ethnic German.

View all comments by Gary Reiswig

Told you so (see reference).

I missed from the discussion a mention of the stochastic nature of gene expression, and specifically of the age at onset, as an explanation of the incomplete "penetrance" of mutations with a late expression. Penetrance is a dirty word that explains nothing, as many carriers die from other causes before expression of the mutation.

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. Abstract

View all comments by Jean-François Foncin