Familial Alzheimer’s disease is an exceedingly rare form of Alzheimer’s, that was recently brought to light by the film, “Still Alice.”
Learn more about the heartbreaking disease that devastates families and how you can determine your own risk.
Familial Alzheimer’s disease (FAD) is a rare form of Alzheimer’s that is entirely passed down through genetics, being inherited from a parent.
FAD accounts for 2-3% of all cases of Alzheimer’s and usually has a much earlier onset than other types of Alzheimer’s, with symptoms developing in people in their 30s or 40s.
This rare form of the disease has recently been put into the spotlight, as the type of Alzheimer’s that Alice Howland, played by Julianne Moore, battles in the Oscar nominated movie, “Still Alice.”
Researchers believe that people with FAD have a mutation in one to three genes known to aid in the development of Alzheimer’s: PS1, PS2 and AAP. All of these genes influence the production of beta-amyloid proteins that can clump together and become a hallmark characteristic of Alzheimer’s. People diagnosed with Familial Alzheimer’s have generally had one parent diagnosed with the disease and siblings and children each have a 50% chance of inheriting it. It would be extremely rare for FAD to make a first time appearance in a family.
Similar to the more common late-onset Alzheimer’s, FAD has no cure and causes the person diagnosed to eventually become completely dependent on others. The disease differs from the more common late-onset Alzheimer’s by its early onset and its rarity.
Many people who have seen loved ones fight Alzheimer’s want to know if they are at risk for the disease.
Genetic testing may be useful in helping to determine the risk of any given person with a few caveats. While testing is available for FAD, it is important to consider that it is extremely rare with roughly only 200 family lines in the world carrying the genetic mutation. Also, there is no cure for the disease, so knowing that there is a chance a person is at high risk before symptoms occur can be stress inducing and have a negative impact on well-being as well as personal relationships. At the same time, an earlier diagnosis can lead to better and more treatment options.
Researchers suggest that anyone undergoing a test and obtaining positive results speak with a genetic counselor.
Because early-onset FAD is so rare, it is not included in most clinical and drug trials. It is often called the “ultimate orphan disease,” lacking advocacy, funding and visibility.
While the search for a cure rages on, researchers urge people to prevent the disease with positive lifestyle choices including regular exercise, a healthy diet and a low-stress lifestyle.
Do you or does someone that you love have FAD? Would you want to know if you were at risk? We’d like to hear your experiences and stories in the comments below.
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