Special report: With Alzheimer’s in the genes, when do you test?

PART OF THE CURE

Gary was 25 when he found out his father had Alzheimer’s, and he lived with the possibility that he might develop the disease until he was 57. That is when he learned he did not inherit the gene.

His family already saw the grim results of the disease. Gary’s grandfather, at age 53, veered into the path of a freight train in 1936. The accident killed his grandmother; his grandfather survived with a few stitches and lived another 10 years.

“My family attributed his disease and forgetfulness to his grief over this accident,” Gary said. It was only later, when the next generation began to suffer the same symptoms, that one of his aunts began to suspect something was terribly wrong.

Gary’s family and 11 other North American families have mutations in the presenilin 2 gene. They are descendants of Germans who settled in two villages in the Volga region of Russia in the 1760s, and later settled in the United States in the late 19th and early 20th centuries.

Their disease is autosomal dominant, meaning children only need to get one abnormal gene from either parent to inherit the disease, and each child has a 50/50 chance of getting it.

This form of Alzheimer’s comprises about 1 percent of the cases of Alzheimer’s worldwide.

“If you have that mutation, so far as we know, you will in fact get that disease,” Gary said.

And because of that guarantee, Gary’s family and others may soon lead the way to a cure for the disease.

DIAN TRIAL

A clinical trial known as the Dominantly Inherited Alzheimer’s Network, or DIAN, is studying families with inherited forms of Alzheimer’s to learn more about how the disease progresses.

Funded by a grant from the National Institute on Aging in 2008, DIAN has the largest and most extensive worldwide research network investigating dominantly inherited Alzheimer’s, with sites in the United States, Britain and Australia.

Initial results from the study presented at the Alzheimer’s Association meeting suggest inherited forms of the disease can be detected as many as 20 years before problems with memory and thinking develop.

They found that, as with people with more common Alzheimer’s, people who develop early onset disease experience a drop in amyloid in their spinal fluid and an increase in tau some 20 years before their symptoms appear.


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