Amyloid markers in spinal tap

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Jenn3
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Amyloid markers in spinal tap

Post by Jenn3 »

Hi everyone,
I'm feeling distressed/confused about a recent test result and was hoping someone can shed a bit of light or share a similiar experience. About 6 years ago, I unexpectedly found out through a 23 and me test that I had two copies of the Apoe4 gene. Like many of you I was shocked by the news. I relayed my results to my family doctor and he referred me to a Memory Clinic where I had my memory tested and a MRI (both were normal). I have since been back twice for monitoring and cognitive tests (indicated no memory problems).

Recently, I took part in a study that looked at retinal imaging and how it could be used to diagnose conditions like AD. As part of the study I had a spinal tap done which could confirm if retinal imaging is accurate. I was shocked to find out that my score of 500 for amyloid (normal is 1100) indicates, as far as I understand, that I have amyloid in the brain. I am only 52 and now terrified that I have or will have AD in the next decade. Before it seemed more like a distant possibility and now it seems like a sentence. Because I have no symptoms, they're not recommending any further testing.

Any advice/recommendations/insights would be much appreciated.

Take care all
Attabeth
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Re: Amyloid markers in spinal tap

Post by Attabeth »

Jenn3 wrote: Wed Apr 06, 2022 12:57 pm Hi everyone,
I'm feeling distressed/confused about a recent test result and was hoping someone can shed a bit of light or share a similiar experience. About 6 years ago, I unexpectedly found out through a 23 and me test that I had two copies of the Apoe4 gene. Like many of you I was shocked by the news. I relayed my results to my family doctor and he referred me to a Memory Clinic where I had my memory tested and a MRI (both were normal). I have since been back twice for monitoring and cognitive tests (indicated no memory problems).

Recently, I took part in a study that looked at retinal imaging and how it could be used to diagnose conditions like AD. As part of the study I had a spinal tap done which could confirm if retinal imaging is accurate. I was shocked to find out that my score of 500 for amyloid (normal is 1100) indicates, as far as I understand, that I have amyloid in the brain. I am only 52 and now terrified that I have or will have AD in the next decade. Before it seemed more like a distant possibility and now it seems like a sentence. Because I have no symptoms, they're not recommending any further testing.

Any advice/recommendations/insights would be much appreciated.

Take care all
Hello Jenn3 and welcome to the community. Thanks for reaching out and sharing your story and concerns. I completely understand feeling shocked of your genetic discovery and also distressed of the spinal tap results. It's so unsettling to feel like we are facing disease or a dreaded diagnosis. The truth is, our genes are not our destiny. We have much more control of our future health than we realize. And having amyloid in a spinal tap does not mean you will get AD in the next decade, or at all. It is a biomarker that can be observed in the brains of many people who with normal cognition have donated their brains to science, so we know that it is not sufficient to cause Alzheimer's, but may be more like observing some plaques in the arteries of people who show no signs of heart disease.

I am sure other members will share their knowledge and insights with you as well, but I hope this will provide you some comfort. You seem educated and eager to learn more about how to prevent disease and how to continue to ace those memory and cognition tests. I hope you will find this community to be a helpful and informative resource.

Since you may be new to the sight I'd like to point you to some links that might be helpful as you explore further.
The Primer includes researched-based prevention strategies.

Some helpful tips and tricks to navigate the site include the How-to Guide. This guide is a great resource I found helpful when I started posting. It includes topics such as navigating the forum, private messaging, an searching. One great tip is using the quote (") button when replying to a post. Using the button will automatically alert the member of your response. It really helps to keep the conversation going.

If you would like to tell us more about yourself or interested in learning more about other members check out Our Stories.

Please feel free to reach out with any other questions or to share more about yourself.

Be well,
Beth
mike
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Re: Amyloid markers in spinal tap

Post by mike »

Jenn3 wrote: Wed Apr 06, 2022 12:57 pm Recently, I took part in a study that looked at retinal imaging and how it could be used to diagnose conditions like AD. As part of the study I had a spinal tap done which could confirm if retinal imaging is accurate. I was shocked to find out that my score of 500 for amyloid (normal is 1100) indicates, as far as I understand, that I have amyloid in the brain. I am only 52 and now terrified that I have or will have AD in the next decade. Before it seemed more like a distant possibility and now it seems like a sentence. Because I have no symptoms, they're not recommending any further testing.

Any advice/recommendations/insights would be much appreciated.

Take care all
Jenn3, welcome from another 4/4. Did they capture anything else besides amyloid in the CSF? By itself, amyloid is no longer considered to be an accurate measure of AD. If your MRI does not show brain shrinkage, then you are likely safe for a while longer. Here is a good run down on the various biomarkers and tests to detect AD

https://www.nia.nih.gov/health/how-biom ... e-dementia
Sonoma Mike
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NF52
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Re: Amyloid markers in spinal tap

Post by NF52 »

Jenn3 wrote: Wed Apr 06, 2022 12:57 pm Hi everyone,
I'm feeling distressed/confused about a recent test result and was hoping someone can shed a bit of light or share a similiar experience....Recently, I took part in a study that looked at retinal imaging and how it could be used to diagnose conditions like AD. As part of the study I had a spinal tap done which could confirm if retinal imaging is accurate. I was shocked to find out that my score of 500 for amyloid (normal is 1100) indicates, as far as I understand, that I have amyloid in the brain. I am only 52 and now terrified that I have or will have AD in the next decade. Before it seemed more like a distant possibility and now it seems like a sentence. Because I have no symptoms, they're not recommending any further testing.

Any advice/recommendations/insights would be much appreciated.

Take care all
Hi Jenn, from someone who is 18 years older than you, also ApoE4/4, with a long family history of cardiac/vascular and mixed (Alzheimer's/vascular) dementia.

I have to tell you in this post what I wish I could tell you in person: it's okay to be terrified--and it's even better to channel that terror into anger at the people who gave you information with no context! I would personally like to give some scathing feedback to whomever from the study gave you those results without offering some very recent and specific information on your risks and also offering options for follow-up counseling support. Since I participate in a group of clinical trial participants who try to improve the recruitment, retention and especially transparency and ethics of studies, I believe your study site would benefit from hearing from you just how terrifying this was!

Because if they HAD done their job, and explained that amyloid beta in those of us with ApoE 4/4 shows up earlier--but does not progress at a faster rate than in ApoE 3/3--and has a VERY LONG incubation period which has not yet been well-defined in large numbers of people, then you would have had some useful information.

It's only in the last few years that studies of Alzheimer's have sought out people with ApoE 4 and normal cognition using CSF, PET and now blood tests for amyloid "biomarkers" of a "process", not "dementia". Think of how a colonoscopy in your 50's may find a polyp which is removed, or a check of your skin may find a small spot of actinic keratosis or basal cell skin cancer and remove it. No one says "You're going to have colon cancer or melanoma in the next 10 years". They just say, as my doctors did "You're on a short leash, see you in 5 years (or one)". You already have the benefit of 3 consistently normal tests of memory and a normal MRI; those suggest that you in fact are nowhere near a cliff of any kind!

I have seen presentations at the Alzheimer's Association conference that found in some studies that 40-60% of people with ApoE 4/4 have "elevated" levels of amyloid beta by age 60--even with normal cognition. And two current studies, called AHEAD 3 and AHEAD 45 are seeking to PREVENT changes in cognition in people with beta amyloid using an anti-amyloid drug called BAN2401 (lecanemab) in people ages 55 and older. The website for AHEAD Study notes that "Brain changes related to Alzheimer’s disease can begin up to 20 years before a person notices any symptoms."

A new study, called APOLLOE4 is targeted specifically at people with two copies of ApoE 4 who have Mild Cognitive Impairment (MCI) or mild AD using an improved form of a drug called tramiprosate that has been shown to be specifically effective in ApoE 4/4s in earlier, smaller trials. If
That doesn't mean that anyone WILL get symptoms within 20 years--these and other studies currently have 1000's of people with amyloid beta who are cognitively normal in their 50's, 60's and 70's

It does mean though that people don't fall off a cliff from "normal" to "Alzheimer's dementia" in the space of a year or even 10. Even with two copies it is RARE to have a diagnosis before age 65--and not rare to be doing fine in your 70's.
I've been involved in both short-term and long-term studies and know that the science is moving very fast--with use of blood tests instead of spinal taps and with newer drugs in the pipeline that are oral, or subcutaneous (think a self-administered prick in the arm, not an IV in the vein) and that protect synapses, target amyloid and tau and show real promise of "meaningful clinical benefit"--the criteria for FDA approval.

At your age (and mine) I would prioritize exercise, insulin control (you can ask your doctor to test both glucose and insulin resistance) a healthy diet and lots of time spent with the people and activities I love. Here's a resource from last year that I also find helpful--although we all should determine what works for us: Precision Nutrition for Alzheimer's Prevention in ApoE4 Carriers. One of the authors, Richard Isaacson, was Director of the Cornell-Weill Medical Center's Alzheimer’s Prevention Clinic until last 2021, and is now director of a research center in Florida.

A former colleague of his, Dr. Lisa Mosconi, is Director of the Cornell Weill Women's Brain Initiative and author of the book The XX Brain: The Groundbreaking Science Empowering Women to Maximize Cognitive Health and Prevent Alzheimer's Disease. She really wants mid-life women to know how to support their brains during perimenopause and after menopause.

So Jenn, you've gotten through the hard part: getting news you did not want, that was delivered without context or hope. Now you get to show just how strong we 4/4 women are by living life fiercely, knowing that you have many more years to enjoy.

Hugs from a healthy, still happy older 4/4 "sister".
4/4 and still an optimist!
Jenn3
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Re: Amyloid markers in spinal tap

Post by Jenn3 »

mike wrote: Thu Apr 07, 2022 11:09 am
Jenn3 wrote: Wed Apr 06, 2022 12:57 pm Recently, I took part in a study that looked at retinal imaging and how it could be used to diagnose conditions like AD. As part of the study I had a spinal tap done which could confirm if retinal imaging is accurate. I was shocked to find out that my score of 500 for amyloid (normal is 1100) indicates, as far as I understand, that I have amyloid in the brain. I am only 52 and now terrified that I have or will have AD in the next decade. Before it seemed more like a distant possibility and now it seems like a sentence. Because I have no symptoms, they're not recommending any further testing.

Any advice/recommendations/insights would be much appreciated.

Take care all
Jenn3, welcome from another 4/4. Did they capture anything else besides amyloid in the CSF? By itself, amyloid is no longer considered to be an accurate measure of AD. If your MRI does not show brain shrinkage, then you are likely safe for a while longer. Here is a good run down on the various biomarkers and tests to detect AD

https://www.nia.nih.gov/health/how-biom ... e-dementia
Thanks for the response. The other two markers they mentioned were normal so it was only the amyloid. The MRI was six years ago but fine. Good to know it's not a sentence and I'll think of it instead as a wake up call. Though I've made a couple of changes since finding out my APOE status, by and large I've been putting my head in the sand. Thanks again and take care
Jenn3
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Joined: Wed Apr 06, 2022 12:28 pm

Re: Amyloid markers in spinal tap

Post by Jenn3 »

NF52 wrote: Thu Apr 07, 2022 2:11 pm
Jenn3 wrote: Wed Apr 06, 2022 12:57 pm Hi everyone,
I'm feeling distressed/confused about a recent test result and was hoping someone can shed a bit of light or share a similiar experience....Recently, I took part in a study that looked at retinal imaging and how it could be used to diagnose conditions like AD. As part of the study I had a spinal tap done which could confirm if retinal imaging is accurate. I was shocked to find out that my score of 500 for amyloid (normal is 1100) indicates, as far as I understand, that I have amyloid in the brain. I am only 52 and now terrified that I have or will have AD in the next decade. Before it seemed more like a distant possibility and now it seems like a sentence. Because I have no symptoms, they're not recommending any further testing.

Any advice/recommendations/insights would be much appreciated.

Take care all
Hi Jenn, from someone who is 18 years older than you, also ApoE4/4, with a long family history of cardiac/vascular and mixed (Alzheimer's/vascular) dementia.

I have to tell you in this post what I wish I could tell you in person: it's okay to be terrified--and it's even better to channel that terror into anger at the people who gave you information with no context! I would personally like to give some scathing feedback to whomever from the study gave you those results without offering some very recent and specific information on your risks and also offering options for follow-up counseling support. Since I participate in a group of clinical trial participants who try to improve the recruitment, retention and especially transparency and ethics of studies, I believe your study site would benefit from hearing from you just how terrifying this was!

Because if they HAD done their job, and explained that amyloid beta in those of us with ApoE 4/4 shows up earlier--but does not progress at a faster rate than in ApoE 3/3--and has a VERY LONG incubation period which has not yet been well-defined in large numbers of people, then you would have had some useful information.

It's only in the last few years that studies of Alzheimer's have sought out people with ApoE 4 and normal cognition using CSF, PET and now blood tests for amyloid "biomarkers" of a "process", not "dementia". Think of how a colonoscopy in your 50's may find a polyp which is removed, or a check of your skin may find a small spot of actinic keratosis or basal cell skin cancer and remove it. No one says "You're going to have colon cancer or melanoma in the next 10 years". They just say, as my doctors did "You're on a short leash, see you in 5 years (or one)". You already have the benefit of 3 consistently normal tests of memory and a normal MRI; those suggest that you in fact are nowhere near a cliff of any kind!

I have seen presentations at the Alzheimer's Association conference that found in some studies that 40-60% of people with ApoE 4/4 have "elevated" levels of amyloid beta by age 60--even with normal cognition. And two current studies, called AHEAD 3 and AHEAD 45 are seeking to PREVENT changes in cognition in people with beta amyloid using an anti-amyloid drug called BAN2401 (lecanemab) in people ages 55 and older. The website for AHEAD Study notes that "Brain changes related to Alzheimer’s disease can begin up to 20 years before a person notices any symptoms."

A new study, called APOLLOE4 is targeted specifically at people with two copies of ApoE 4 who have Mild Cognitive Impairment (MCI) or mild AD using an improved form of a drug called tramiprosate that has been shown to be specifically effective in ApoE 4/4s in earlier, smaller trials. If
That doesn't mean that anyone WILL get symptoms within 20 years--these and other studies currently have 1000's of people with amyloid beta who are cognitively normal in their 50's, 60's and 70's

It does mean though that people don't fall off a cliff from "normal" to "Alzheimer's dementia" in the space of a year or even 10. Even with two copies it is RARE to have a diagnosis before age 65--and not rare to be doing fine in your 70's.
I've been involved in both short-term and long-term studies and know that the science is moving very fast--with use of blood tests instead of spinal taps and with newer drugs in the pipeline that are oral, or subcutaneous (think a self-administered prick in the arm, not an IV in the vein) and that protect synapses, target amyloid and tau and show real promise of "meaningful clinical benefit"--the criteria for FDA approval.

At your age (and mine) I would prioritize exercise, insulin control (you can ask your doctor to test both glucose and insulin resistance) a healthy diet and lots of time spent with the people and activities I love. Here's a resource from last year that I also find helpful--although we all should determine what works for us: Precision Nutrition for Alzheimer's Prevention in ApoE4 Carriers. One of the authors, Richard Isaacson, was Director of the Cornell-Weill Medical Center's Alzheimer’s Prevention Clinic until last 2021, and is now director of a research center in Florida.

A former colleague of his, Dr. Lisa Mosconi, is Director of the Cornell Weill Women's Brain Initiative and author of the book The XX Brain: The Groundbreaking Science Empowering Women to Maximize Cognitive Health and Prevent Alzheimer's Disease. She really wants mid-life women to know how to support their brains during perimenopause and after menopause.

So Jenn, you've gotten through the hard part: getting news you did not want, that was delivered without context or hope. Now you get to show just how strong we 4/4 women are by living life fiercely, knowing that you have many more years to enjoy.

Hugs from a healthy, still happy older 4/4 "sister".
Thank you for your heartfelt and encouraging response. It means a lot and I'm starting to feel better about the result and what it means (and doesn't mean) for my future. You're right that the news should have been delivered with more context/information and tact. I'm planning to make an appointment with the doctor to express my concerns. Part of it was the nurse practioner whose bedside manner also left a lot to be desired when he gave the results and the other part was myself who jumped to the conclusion that amyloid buildup equaled AD. It was very reassuring to read that "it's rare to have a diagnose before 65 and not rare to be doing fine in your 70s" --thank you for that. And thank you for that article on precision nutrition. I spent the last hour going through it and taking notes and will be starting on a low-carb program, cutting back on alcohol and adding olive oil to everything:). It's actually been a wake-up call. Even though I found about the 4/4 years ago, I haven't made a lot of changes besides some supplements and trying to learn French. I'm busy with two jobs, two teenagers and honestly I'd rather not think about it all (though of course it's always lurking in the back of my mind especially when I can't find my keys or forget something:)). But even if I'm not near the cliff I still need to be more proactive so I'll implement more lifestyle changes and keep monitoring it and put my name down for studies and live my life as fully as possible. Everything that you're doing so well. Thank you again and take care --Jenn
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