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.”What You Need to Know About Familial Alzheimer's Disease

Learn more about the heartbreaking disease that devastates families and how you can determine your own risk.

Familial Alzheimer’s Disease

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: 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 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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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.

      • kbattgirl

        Yes, I am positive she had early onset Alzheimer’s. You ought to do your research before posting about things like this. She was diagnosed by a specialist. Plus, early onset is any diagnosis prior to age 65 so not sure where you get that they don’t live past their 60’s.
        Also, I was posting something very personal that happened not that long ago. Why would you feel the need to question it? Regardless of whether her diagnosis is “correct” I don’t know you. And my mother is still dead. I miss her terribly every single day! I lost my father too. It seems like a trivial thing to point out.

        • Una Nelson-White

          I didn’t intend to make offence. I have this horrible version of Alzheimer’s running in my family, so I have done allot of research on the subject. It usually shows symptoms in the age range in the 40’s & 50’s and kills the patient in the 60’s. I have had this type of heredity based Alzheimer’s hanging over my head, so I have kept up with the research. Having said that, there is still allot that is not known about the disease, so you could be right about your family member. My comment was just to encourage you to do more research for yourself, since if it is Early onset Alzheimer’s, you might want to be tested for the genes related to it.

          • Alice

            I underwent genetic testing a few months ago as my grandmother passed away from Alzheimer’s (at 79 and wasn’t diagnosed until her early 70’s) and my aunt was diagnosed at 55 several years ago. I am 27 years old and was not expecting to have the genetic mutation as it is so rare, but I got my results yesterday and sadly I have Presenilin 1 mutation which means that I will develop alzheimer’s at some point in my life, and it also means that my mom, who isn’t showing signs yet, will develop alzheimer’s well. So yes, even though it typically shows up between 45-65, it can show up before that or after than and still be autosomal dominant, early on-set alzheimer’s.

          • jennyct

            So the first person to have early onset was your aunt? Her own parents were older? And you tested positive? My mom got it at 63 and I am really worried myself, but was told it is very rare – and her own parents did not have dementia at all well into their late 70s – they died from other causes. Her sisters don’t have it either.

  • 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.

  • M Quinn (Estrada)

    Currently I am part of one of the families being tested and researched. My grandfather died from “dementia” or at least that was what they thought. At the age of 36 my father too was diagnosed with “dementia” but after further research the verdict was familial Alzheimer’s. My dad passed away in 2015 at the age of 52. And his younger sister passed a few months later at the age of 49. Recently a cousin allegedly commited suicide at 28 years old because he discovered he had the marker for the disease. While none of my siblings nor myself have been tested it is definitely a topic in our household. Not knowing our fate and preparing for the worst is our current scenario but with a few trial drugs out looking to prevent the gene from activating there is a price of me that wants to see my fate. Has anyone else dealt with this disease this aggressive. My dad dealt with it for close to 16 years and my aunt for about 6. It is very unpredictable.

  • Martin Jones

    Sadly we can not run away from the fact that the cure of Alzheimer’s still does not exist. But we can reduce the prevention of the disease. CBD is the best way to prevent Alzheimer’s. Some CBD infused products has medicated to some Alzheimer’s patients as an opt to treat early stage of dementia. There are 3 benefits using CBD infused products. 1. Anti-inflammatory: CBD works as an anti-inflammatory which can treat anxiety and depression. 2: Prevention: while CBD have anti-inflammatory and antioxidant properties, it can be used to make your health excellent neutral. 3: Can potentially stimulate neurogenesis: CBD has ability to stimulate neurogenesis because of the properties antioxidant.

  • Rae Lewis

    My cousin ex just died from I believe this disease FAD (Since then I’ve been looking more into this). He began to experience symptoms at 40 yrs old and he just passed away October 20 at age 47- natural causes (he had a loss of all his ability to talk and to care for himself). He has two younger siblings that are now in convalescent homes experiencing the same FAD symptoms( i’m not sure their ages but I know they’re early 40s. I forgot to add his/their mother and grandmother both died in their 40s due to the same dementia-like symptoms. My cousin ex was in prison and had numerous tests and doctors to review his case and they were at a lost for words at what was happening to him and how rapidly his health declined. I know all of this because I work in corrections mental health and was able to visit him several times and his decline was unbelievable as I knew him in our childhood it was like night and day. My cousin has children with him and I’m concerned they’re at risk so i wanted to gather as much information I could for the family. It appears they have just written it off as early onset Alzheimer’s disease. Any information of doctors in the area that could help or have my cousin kids tested would be greatly appreciated!

  • Stella LaVecchia

    Hi all my name is Stella I am one of seven children . Four older two younger . I just turned 60 and my sister is 11 months my junior. She has been diagnosed with early onset AD ???? I am trying to understand more about the difference between familiar and sporadic early onset . I am hoping to gain some more knowledge of this horrible disease . Thank you in advance ????

  • Jes

    My grandmother has a form of dementia, we can see her fading through video calls (they’re in a different country). She’s forgotten everyone but my grandfather. She doesn’t recognise my mother or any of my mother’s siblings. My grandmother even lives with some of her children (aka my uncles) yet she’s forgotten everyone. My mother seems like she has it even though she is still considered “young”, but she’s never been tested. I don’t she wants to either. My father also seems like he has it. He mixes our names, forgets familiar locations, forgets the birthdays of my sibling and I, and just a bunch of… I guess, signs. Since both seem to be in for it, I think the chances of my brother and I having it increases.

    Currently, I tend to forget a lot. I can remember long term things, but short term, forget it. However, I do recall it out of nowhere at a later time so it’s not much of a sign of this disease. But I am far too young to test for it (I believe you won’t get much of a result if you’re young like 20?). If anyone has any info on possibly getting me tested, please do tell. Thank you for reading.

  • keith

    father just died at 67 of early onset alzheimers…guess i have a 50/50 chance of getting it i am 43

  • Susan Mcmartin

    Just seeing my mum going through struggles and my gran had Alzheimer’s and her brother worried mum is getting confused upsetting for us and if mum does get tested I will want to know now if it’s herieditary for me as I watched still Alice and can relate to my mum simalar stuff in film sad and would rather know my fate my sister said do you wanna know me yes as if have gene we have it anyway and if we know sooner might get help before it’s too late

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