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21st September 2015

When early Alzheimer’s runs in the family

What would you do if your children had a 50-50 chance of inheriting Alzheimer’s from you?

This question swirled around in my head for hours after watching Still Alice, a film about a fictional 50-year-old linguistics professor called Alice Howland (played by Julianne Moore), who’s diagnosed with a rare form of Alzheimer’s disease that runs in the family and comes at an unusually early age.

In the film, Alice sees a neurologist when she starts forgetting words for everyday things, she’s getting lost while out jogging in an area that she knows well and she’s missing appointments, among other initial symptoms. With the help of a positron emission tomography (PET) scan, the neurologist confirms that Alice has Alzheimer’s, despite the fact that most people don’t develop the disease until they’re in their 60s or older.

When the results of the scan come back, the doctor’s computer monitor shows a mostly bright green image of her brain, but there are also some ominous looking red blotches. We find out these are the areas where there’s a build-up of a sticky plaque (beta-amyloid) that’s widely linked to Alzheimer’s because it’s thought to cause disruptions in the brain’s normal function. This interference is characterised by a steady decline in cognitive, behavioural and physical abilities, and throughout the movie, we see Alice slipping away.

The eFAD gene mutation: to test or not to test?

After being diagnosed, Alice wants to know as soon as possible whether she might pass the disease onto her children, so she opts to have a genetic test that reveals she has early onset familial Alzheimer’s disease or eFAD, the hereditary form of the disease.

Only a very small percentage of people with Alzheimer’s have eFAD, which is caused by a genetic mutation that the test can sometimes identify. In other words, if you’re diagnosed with eFAD, then one of your parents will also have had it if he or she lived long enough, and there’s a 50-50 chance that your children will inherit it.

Breaking the news to her three adult children is even more distressing than being diagnosed herself.

Her children then have to make a difficult decision that could change their lives forever. Do they have the genetic test or not? Alice’s two older children have the test, but the youngest decides she doesn’t want to know. Alice’s relief is palpable when she finds out that her son doesn’t carry the eFAD gene mutation, but she receives a huge blow when her elder daughter tests positive, which means she will eventually develop the disease and could pass it on to her children, too.

Oddly, early diagnosis can bring relief

You’d think discovering you have Alzheimer’s (hereditary or not) would be the end of the world. But surprisingly, getting an early diagnosis can actually be positive for patients, says neurologist Lisa Genova, who wrote the book on which the film is based. “First, to get the diagnosis provides a lot of relief for people who’ve spent maybe a year or more trying to figure out what the heck is going on. So, oddly enough, being told that they’re not crazy, that they actually have a reason for the cognitive changes that have been going on ‒ although it’s heart-breaking and devastating in some ways, in others I’ve heard over and over again that it’s a relief to finally know what’s going on, that they can now do something.”

The idea of using deep brain stimulation (DBS) to possibly slow the progression of Alzheimer’s is also gaining ground. Although research is in the early stages for Alzheimer’s, DBS has already shown that a special surgically implanted device can help treat neurological and neurodegenerative illnesses such as Parkinson’s disease, depression and movement disorders like dystonia.

About the picture –  Title: “Still Alice”; Author: Maria Morri; Source:  “Still Alice” ; License: CC BY 2.0