What You Need to Know About Familial Alzheimer’s Disease

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.

What You Should Know About Familial Alzheimer's Disease

What is Familial Alzheimer’s?

Familial Alzheimer’s disease (FAD) is a rare form of Alzheimer’s that is entirely passed down through family, being inherited from a parent. FAD accounts for between 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 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: PS1PS2 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.

Determining Your Risk

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 talk speak with a genetic counselor.

Because Familial Alzheimer’s is so rare, it is not included in 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.

Would you want to know if you were at risk for FAD? Do you or someone that you love have FAD? Share your experiences with us in the comments below.

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Please leave your thoughts and comments

  • twila nash

    my husband was diagnosed with what this certain Dr. said was simply put, Dementia. He was in his early 50’s . He is now 68 and I really only have noticed a striking difference in the last 3-4 years. He forgets practically everything. He can watch a movie and the next night he will think it’s a new movie. He does not socialize like he used to, he never did talk very much but that has gone from bad to horrifying. I have to remind him to brush his teeth, take showers more. He was never great at housework but now it’s terrifying. He would leave the sheets on the bed until they got up and walked themselves to the hamper if I allowed it. He just forgets sooooo much. It’s scary.

  • Maria Scharenguivel

    My late grand mother, my father and three of his siblings all got Dementia. And another sibling of him just being diagnosed with that illness too. Am I and my cousins will get that disease too? How to know that we got it?

  • Cherie B

    If my grandfather had AD in his late 70’s but my mother has it in her very early 60’s, what would my risk of AD or EOAD be? No known cases before my grandfather of AD.

  • Sharon

    Hi just watched still Alice yesterday I work in a unit looking after people with alzheimers/dementia my mother was diagnosed with alzheimers 8 yrs ago she was only 59 that’s all we were told then 2 yrs later we were informed it was actually more advanced than Wat we were initially told. is this test available threw Ur GP or do u have to go private I think I’d like to know if I was positive I’m 47… tnx u

  • hannah

    I’m still not sure I understand. If they find the genetic mutation (my father died of FAD at 65) is it 100% certain you will inherit the disease?

    • Zoe

      You have a 50% chance of inheriting the disease so you wouldn’t know unless you get yourself tested.

  • Krista Battrick

    My Mother died 8 months ago, at age 73, of early-onset Alzheimer’s disease & Vascular dementia. I do not know if she had FAD. Her Mother had Alzheimer’s but lived until she was in her late 80’s. Her Father did not have it. My sisters & I are very concerned about our chances of getting the disease as our Mother showed signs of the disease as early as her 50’s. I am 47 years-old. I do not know if I should get tested, for the very reasons stated in the article. I can make positive changes in my life like getting regular exercise, eating a healthy diet, and reducing the stress in my life without getting a test that would most likely cause me more stress.

    • Cissie Nall

      I feel what you’re saying. My grandmother also died after getting the disease. My mother was just recently diagnosed. Both either in or close to their 80s.
      It’s definitely scary for me.. as a female in our family. I also have 2 sisters abd several nieces and femaile grandchildren.
      I feel for you. Get tested. It’s better to know so we can plan rather than be surorised. I believe, anyway.
      Cissie Nall

    • Una Nelson-White

      Are you sure your mother had Early Onset Alzheimer’s? It is almost unheard of for someone with that version to make it past their 60’s.

  • Carol

    My step-sisters got familial Alzheimer’s when they were in their 20’s and died when they were 29 – 30. It was very hard to see at such a young age. Their mother also died very young from it and a son of one of them died early also.

  • John

    Altzhiemers runs in my family. My grandfather was the first to have it. My uncle, two aunts and my father all had the disease. (And passed) Two other aunts are without any signs. Wondering who will find the cure or be able to reverse this.

  • Betty Doire

    How do you go about being tested? All of the women on my Dad’s side of family have come down with it. I think his Mom and sisters and now some of the female cousins. My Dad developed it also, later in life. Also one of my Aunts on my Mom’s side had it. I would like to know so I can make arrangements for care before I get to where I will not be able to. I do not want my children to deal with having to make those kind of decisions.

    • Michelle Anderson

      I work with a client who has this early onset at a young age being in her forties. I hope you find some good answers. We care for her so much.

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