The daughter of the first woman with Alzheimer’s disease

On July 22, 2021 I posted an essay about the first patient diagnosed with what we now call Alzheimer’s disease. Auguste Deter first came under the care of Dr. Alois Alzheimer, a psychiatrist and neuropathologist, at age 51.  She had started having rapidly progressive memory loss, perseveration of speech, hallucinations, and fears that her husband was having an affair with the next-door neighbor, fears that were apparently unfounded. She died five years later in 1906, and Dr. Alzheimer was able to examine her brain microscopically. He was surprised to find dark blobs outside of nerve cells and smaller dark tangles inside nerve cells.  He reported his findings at a psychiatry conference, but there was little interest from the audience. Soon other pathologists were seeing these dark blobs in brain tissue from demented patients, later identified as amyloid plaques and neurofibrillary tangles. Dementia associated with these pathological findings came to be called Alzheimer’s disease in his honor.

I had always wondered about the very early onset of Auguste Deter’s dementia. I suspected that she must have had one of the autosomal dominant mutations that result in early-onset Alzheimer’s, and indeed in 2013 scientists in Germany reported a genetic analysis of tissue recovered from a microscope slide prepared at the time of her autopsy in 1906.  She had the presenilin-1 mutation on chromosome 14, one of the three known mutations that cause autosomal dominant Alzheimer’s.  APOE-4 homozygotes can occasionally have early onset of Alzheimer’s as well as the more common late onset disease, but she was found to have two copies of APOE-3 which does not lead to early or late disease. At the time I wrote that essay, I stated that we didn’t know if she had children.  It turns out that she did have a child, a daughter named Thekla. My wife Lois did some digging on Ancestory.com and found some records suggesting that Thekla died in 1940 at age 67. If that is true, it would have been unlikely for her to have been a carrier of the presenilin-1 mutation which almost always is associated with an early death.