The Alzheimer’s Society and Alzheimer’s Association have lots of information on caring for people with dementia but no resources on their website for people caring for children, teens and young adults suffering from dementia. There are many kids who have dementia as a result of rare diseases even though most people think dementia strikes the elderly.
I know it’s hard to believe that six year old kids like Addi and Cassi have dementia but they do. It can be very difficult to deal with dementia in children as they don’t remember (or can’t learn) that burners are hot, stairs are steep or cars come up and down the street. Addi and Cassi were once potty trained and knew their nursery rhymes but then forgot what they learned as a result of their fatal genetic cholesterol condition that is destroying their brains.
As you can imagine, the thought of your children forgetting who you are is very distressing to parents. There is a lot of grief and sadness and yet little support to deal with your kids losing their minds.
Here are some conditions in children that involve dementia:
- Alexander disease
- Autism (Infantile)
- Batten disease
- Canavan disease
- Juvenile Huntington’s disease
- Metabolic diseases
- Niemann-Pick Type C
- Subacute-sclerosing Panencephalitis (SSPE)
- Tay Sachs disease
The Niemann Pick Disease Group in the UK has written a guide to help parents, teachers and care professionals understand dementia in young people. But we need more resources written and more educational efforts to bring attention to dementia in the young. For example, how can school children cope with having a classmate who has a dementing disease like Niemann Pick Type C. Niemann Pick Type C children do have best friends that they may not remember in the future as their fatal condition progresses.
I am going to contact the Alzheimer’s Foundations to see if they are willing write a story about kids and dementia. Maybe if people knew this was happening to children they would care more about dementia or give more to dementia research.
I have been saying this for close to two years now about cholesterol and dementia being linked but no one seems to listen. Now a Kaiser Permanente study published in Dementia and Geriatric Cognitive Disorders has hits the news showing that what’s good for your heart is good for your brain. Really? I guess this is a surprise to the Alzheimer’s Association?
Maybe scientists studying heart disease and Alzheimer’s will read Brown and Goldstein’s recent paper in Cell about the Niemann Pick Type C gene on Chromosome 18. I wonder if the Alzheimer’s Association even knows who Brown and Goldstein are? In case they don’t know, Brown and Goldstein are considered the “cholesterol kings” and in 1985 they won the Nobel Prize for their discovery of the LDL cholesterol receptor. The entire multi-billion dollar statin drug industry was build off of their cholesterol research — the same drugs people are being encouraged to take to possibly ward off Alzheimer’s.
Why are Brown and Goldstein studying a cholesterol gene we are all born with called Niemann Pick Type C located on Chromosome 18 and why are they publishing papers about it? As it turns out, when this gene is severely disrupted as it is in my identical twin 5 year old identical twin girls, it causes a fatal cholesterol disorder and childhood dementia. This genetic disruption only affects 500 children in the world yet these children could hold the keys to cholesterol metabolism in the human body.
Brown and Goldstein’s Cell paper (pay particular attention to Figure 6!) is probably the most important NPC paper since the discovery of the Niemann Pick Type C gene by Dr. Peter Penchev and National Institues of Health over 12 years ago. Many of the answers for cholesterol and dementia have been right in front of us for years — we only need to look deeper into cholesterol disruptions and genes like Niemann Pick Type C. After all, it’s a gene every person is born with and it is involved in cholesterol metabolism and could impacts many pathways in the body.
Finally, meet Addi and Cassi’s and see their favorite products on our home page – many are mentioned in this article from plant sterols to red rice yeast. Our battle against the killer cholesterol continues. We hope you join our fight.
Here is the story:
(CNN – Aug. 5) — People as young as 40 with borderline or high cholesterol levels are at increased risk for developing Alzheimer’s disease or vascular dementia, said a Kaiser Permanente study released Tuesday.
Researchers tracked nearly 10,000 people for four decades, starting when the participants were between 40 and 45. After controlling for weight, hypertension and diabetes, researchers discovered a significant link between borderline-high cholesterol and dementia, according to the study.
Although previous studies have linked heart and brain health, researchers said this study is the first to examine the association between borderline cholesterol levels and dementia.
And although dementia does not typically strike until later in life, “it’s a disease of a lifetime,” said Rachel Whitmer, research scientist at Kaiser Permanente and senior author of the study. “We need to think about it like we do for cardiovascular disease.”
The study found that participants who had high cholesterol, or a value of 240 or more, had a 66 percent greater risk of developing Alzheimer’s disease later in life. People with borderline-high cholesterol, between 200 and 239, had a 25 percent spike in risk.
“The terminology can really be confusing to people who don’t necessarily associate borderline elevations with substantial increased risks,” said Dr. Gregg Fonarow, a cardiologist and professor of medicine with the UCLA Division of Cardiology.
More than 106 million Americans have borderline-high cholesterol levels, according to the American Heart Association.
“If anyone was ever on the fence about controlling their lipid profiles, this could be further reason to bring your numbers to an optimal level,” Fonarow said.
The first step to lowering high cholesterol is to modify a person’s health habits.
“When I meet with patients, I emphasize to them that there’s not one single thing they can do to improve their lipids. They have to think of their whole life,” said Dr. Larry Bergstrom, director of the Integrative Medicine Program at the Mayo Clinic in Scottsdale, Arizona.
Experts agree that a three-pronged approach of daily exercise, stress reduction and nutrition can naturally lower levels. A diet rich in olive oil, nuts, whole grains, fiber, fresh fruit, vegetables and a limited amount of red meat is best, according to the Mayo Clinic.
“These people were between 40 and 45 years old when their cholesterol was measured. That is many years before one would get dementia. This is a modifiable risk factor that can be changed,” Whitmer said.
Supplements such as plant sterols and red yeast rice are also effective when taken in conjunction with a healthy diet. A recent study showed that red yeast rice decreased the body’s production of cholesterol and lowered a person’s LDL, or bad, cholesterol by 27 percent over a three-month period.
“If someone changes their diet, exercises and works on stress, supplements could be what pushes them over the edge and helps complete the picture and lower their levels effectively,” Bergstrom said.
More traditional treatments such as prescription medications are also an option for those people who eat a heart-healthy diet and exercise daily, but still need help lowering their overall cholesterol. “If every individual knows their optimal lipid levels and can control them, it will pay large health dividends,” Fonarow said.
Although the Kaiser study does not show proof that lowering cholesterol definitively lowers the risk for Alzheimer’s disease as well, many doctors agree that nothing adverse can come of reducing high cholesterol levels.
“What’s good for your heart is good for your brain,” Whitmer said. “That really captures all the timely messages about dementia science.”
The Scientist Magazine
By Alison McCook
Researchers are slowly establishing a connection between an extremely rare genetic disease and HIV — and homing in on a safe, non-prescription compound that could treat both. Recently, James Hildreth at the Meharry Medical College School of Medicine in Nashville, Tenn., and his colleagues found that cells affected by Niemann-Pick Type C (NPC), which disrupts cholesterol trafficking, were unable to release HIV, suggesting these cells would not spread the virus.
These findings, published May 27 in the Journal of Virology, are rooted in a hypothesis Hildreth has explored for a long time: that "cholesterol is somehow essential" to HIV, he said. For instance, HIV-1 relies on specialized structures known as lipid rafts, which are rich in cholesterol, to infect new cells. That line of thinking has led him to investigate whether a compound widely employed by the food and chemical industries (and used as a drug solubilizer) which depletes cells of cholesterol could serve as a preventative agent — or even a treatment — for HIV. And his growing body of evidence is suggesting the compound, known as cyclodextrin, might do just that. "There are very few [compounds] that rival the safety profile" of cyclodextrin, said Hildreth. If further research confirms it has an effect on a disease that affects millions of people worldwide, that would be a major advance, he noted. "It’s been exciting for me from the beginning."
Cyclodextrin appears to also show some benefit in NPC, pointing further to a connection between HIV and the rare genetic disease. Indeed, a family with identical 5-year-old twins with NPC recently received permission from the US Food and Drug Administration to give the girls regular infusions of cyclodextrin. NPC leads to marked abnormalities in the liver and brain and is invariably fatal. "You have no idea what a relief it is to have something to try," said Chris Hempel, mother to Addi and Cassi.
The girls have so far received several infusions, starting with one continuous 4-day infusion, and are now getting a series of 8-hour weekly infusions of increasing doses. Hempel said the girls improved remarkably after the first 4-day infusion, showing better control of their head and neck and better balance, and were more affectionate and responsive to people. These improvements waned a bit once the girls switched to weekly doses, but seem to be returning as the doses increase.
In a previous experiment, Hildreth and his colleagues found that adding cyclodextrin to uninfected cells to deplete cellular cholesterol warded off HIV infection. Restoring normal cholesterol levels removed that protection. In a mouse model of HIV, cyclodextrin prevented vaginal transmission of the virus by infected cells. In a primate model, the data were somewhat less promising. When macaques received topical cyclodextrin before being exposed to the virus, the treatment appeared to prevent infection initially, but offered little protection upon re-exposure to SIV, again following cyclodextrin prophylaxis.
Hildreth said that may be because the animals received a massive dose of the virus — "way more than you’d ever see in seminal fluid in a natural setting" — and the batches of cyclodextrin used for the repeated doses were not of the same quality. He said he is now repeating the study using a "physiologically relevant" amount of the virus. "We’re pretty confident." Hildreth explained that NPC is likely disrupting HIV transmission by affecting the trafficking of the viral protein Gag. "The very dramatic thing in NPC cells is the Gag protein seems to never make it to the plasma membrane."
Currently, Hildreth is developing cyclodextrin as a microbicide against HIV. He has filed an investigational new drug application with the FDA, and is investigating whether the compound could serve as a therapeutic. Steven Walkley, who studies lysosomal storage disorders such as NPC at Albert Einstein College of Medicine in New York, said his own data show cyclodextrin has a "remarkable" effect on mice with NPC. "They’re living literally twice as long as they would otherwise, " he said. "We were very surprised, to say the least." (He and his colleagues have submitted their findings for publication.)
Walkley noted that his mice receive 4000 milligrams per kilogram of cyclodextrin — 10 times a recent dose the Hempel girls received — and he hasn’t noticed any side effects. However, it’s still unclear how exactly cyclodextrin is warding off NPC, which means there could be some side effects scientists have not yet discovered, he added. "Maybe there’s something going on and we just haven’t found it yet."
Peter Pentchev, a retired scientist who worked with NPC for decades at the National Institutes of Health, echoed Walkley’s opinion about the promise of cyclodextrin in NPC, dubbing it the "perfect drug" for the disease. He cautioned, though, that "we know what [cyclodextrin] does, but we don’t know why or how." But scientists are working on those questions, he added. "In the next year, I’d be really surprised if we don’t get some answers."
Hempel, too, has failed to notice a single side effect since her girls began cyclodextrin infusions. "We’re proving the safety of this compound," she said. "I definitely feel like Addi and Cassi are leading the way here, not only for NPC kids, but potentially for AIDS patients."
Cystic Fibrosis and Niemann Pick Type C Linked Through Cholesterol Abnormalities and cAMP Cell Signaling Pathway
A few months ago, I wrote a blog about the connection points between Duchenne Muscular Dystrophy (DMD) and Niemann Pick Type C (NPC) and how more research dollars are needed for collaborative research projects between the two deadly diseases. Today, I am writing about the connections between Cystic Fibrosis (CF) and Niemann Pick Type C. Cystic Fibrosis (CF) is the most common, fatal hereditary disease in the U.S. CF is a disorder of the cells that line the lungs, small intestines, sweat glands and pancreas. Sticky, thick mucus contributes to the destruction of lung tissue and impedes gas exchange in the lungs. It also prevents nutrient absorption in the small intestine, and blocks pancreatic ducts from releasing digestive enzymes. I am not going to get into all of the horrible symptoms of Niemann Pick Type C — simply imagine a bedridden child with complete paralysis of the eyes and severe dementia and you’ll get the picture. Not exactly the life I dreamed of for my beautiful twins, Addi and Cassi. The CFTR gene is located on chromosome 7, while the Niemann Pick Type C gene is located on Chromosome 18. What do these diseases have in common if the disease causing gene mutations are on different chromosomes? Pathways! Both the CFTR gene and NPC1 gene are regulated by the cAMP pathway and researchers at Case Western Reserve University are proposing that Cystic Fibrosis and Niemann Pick Type C cells chronically activate portions of the cAMP pathway to try and restore either CFTR or NPC1. The chronic activation of the cAMP pathway could lead to cholesterol accumulation, inflammation and oxidative stress. Interestingly, regulation problems in the cAMP pathway could also be involved in other diseases such as Parkinson’s.
I am sure there are many parents in the Cystic Fibrosis community (and possibly many researchers and doctors!) who have no idea that cholesterol processing abnormalities are involved in Cystic Fibrosis or that CF and NPC share similarities. Interestingly, an experimental medication that Addi and Cassi are taking called Zavesca (Miglustat) which is made by Actelion may provide a therapeutic benefit for Cystic Fibrosis patients. Zavesca is a substrate reduction therapy and Actelion is currently running a small pilot trial for CF patients. Niemann Pick Type C seems to combine the worst of all these larger diseases – from progressive dementia to ataxia and muscular problems to pulmonary issues. Soon to be published works shows that the HIV/AIDS virus requires the Niemann Pick Type C gene to assemble in the body. What is the common theme here — cholesterol! I hope that Alzheimer’s and Parkinson’s researchers studying the cAMP pathway will start to look at how rare childhood diseases like CF and particularly Niemann Pick Type C can shed light into these more common diseases that affect millions. Maybe the NIH will sponsor a cAMP pathway workshop to bring together researchers from different disease states to collaborate on this critical cell signaling pathway since it is involved in so many illnesses. We need collaboration across different diseases that are interrelated find cures for people!