What “Childhood Alzheimer’s Disease” Can Teach Us About the Brain

Niemann-Pick disease type C (NPC) is a condition you’ve probably never heard of. It’s an extremely rare disease, occurring in approximately 1 in 100,000 live births. But despite its rarity, the strange connections between NPC and a much more common condition, Alzheimer’s disease, are now leading researchers to consider how the connected mechanisms of these two diseases may help us in our search for a cure.

What Is Niemann-Pick Disease?

Children with NPC, including Addison and Cassidy Hempel shown in this article’s top image, typically appear normal until reaching middle to late childhood. Around that age, they begin experiencing subtle symptoms such as clumsiness, poor handwriting, and impaired speech. Some children lose the ability to move their eyes up and down or side to side. These problems gradually worsen over time, with affected children eventually losing the ability to speak or swallow. They may also develop seizures, involuntary muscle contractions, or other movement disorders.

Perhaps even more tragic than the physical symptoms are the effects of NPC on the brain. Children with this condition experience a progressive loss of memory and cognition, which has led to the disease’s unofficial name of “childhood Alzheimer’s disease.” Eventually, after a decline that can last many years, these children succumb due to respiratory failure or severe seizures. There is currently no effective cure or treatment.

These images from the National Niemann-Pick Disease Foundation show the tragic progression of this disease in a child.

The Cholesterol Connection

NPC is caused by a mutation in one of two genes, known as NPC1 and NPC2. These genes are necessary for cells to be able to process and transport cholesterol. While cholesterol is often seen as something to avoid in our diets, we actually require a small amount of it to survive. Our cells need cholesterol to create new membranes or synthesize steroid hormones. When we consume cholesterol, it gets engulfed in cellular compartments called lysosomes, where it is processed and later released into the cell membrane. In people with NPC, cholesterol can’t be properly processed, so it gradually accumulates inside their lysosomes, especially within neurons. With all their cholesterol trapped, the neurons eventually begin to degenerate and die.

This image shows the spleen of a patient with NPC. The white blobs are large accumulations of cholesterol. Image Source

NPC is an extreme example of what can happen when cholesterol metabolism goes awry. However, it’s not the only neurological disease that cholesterol plays a role in. People with Alzheimer’s disease, the most common form of dementia, tend to have higher levels of cholesterol in their brains than healthy controls. This may result in increased production of amyloid-beta, a toxic protein that’s considered one of the main causes of Alzheimer’s disease. Interestingly, patients with NPC also show increased levels of amyloid-beta in their cerebrospinal fluid, as well as the accumulation of tau (another toxic protein related to Alzheimer’s disease) inside their brains.

The connections between NPC and Alzheimer’s disease don’t stop there. Studies have found that mutations in NPC1 and other genes involved with cholesterol metabolism lead to an increased risk of Alzheimer’s disease. This suggests that cholesterol could be a key contributor to the neurodegeneration that occurs in both Alzheimer’s disease and NPC.

Where We Go From Here

Rare diseases like NPC are largely ignored by pharmaceutical companies, simply because they aren’t common enough for the research and development of a drug to turn a profit. While each of these diseases by itself is extremely uncommon, because there are thousands of different conditions out there, it’s estimated that 25 million Americans suffer from a rare disease. Most of these have no effective treatment.

Studying rare diseases may not be profitable, but they’re still incredibly important. As previously discussed in a fantastic SciShow video, rare diseases can often provide insight into the causes of more common conditions that share the same underlying mechanism. NPC and Alzheimer’s disease provide just one example of how researching cures for a disease that affects only a few thousand people worldwide could help us to learn about another condition that kills millions every year.

 

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How Music Impacts Alzheimer’s Patients

This article is a guest post by Carolyn Ridland, the founder of CaregiverConnection. You can read more about Carolyn at the bottom of this page.

It is challenging to watch a loved one go through problems with memory and thinking and exhibit behavioral changes that are characteristic of Alzheimer’s disease. Even more challenging is the fact that the condition develops very gradually until a point reaches where the patient cannot coordinate the normal day to day activities. While it might be impossible to treat the condition, there is a spectrum of therapies that have been suggested and deemed very useful in reversing the progression of the disease. One of these therapies is the use of music. Many people who have a loved one with the condition are glad to try anything that might work, but the important question is, how does music affect the function of the brain, and what impact will it have on a patient with Alzheimer’s?

How does Alzheimer’s affect the brain?

Most people think that Alzheimer’s and dementia, in general, are a regular component of the aging process. However, it is not a normal part of aging, despite that its greatest risk factor is age. There are people who start exhibiting symptoms of Alzheimer’s disease before they reach 65, which is known as early-onset. It is known that the brain typically shrinks with age, but it does not typically lose its neurons; this is not the case with Alzheimer’s patients. In fact, as they age, the neurons get destroyed, and this widespread damage makes most neurons lose their connections with each other, impairing metabolism, communication and repair (Jacobsen et al., 2015). The disease eats away at the brain function until the person can hardly function. While there is no known cure for Alzheimer’s, early detection and the use of the right therapies can help in slowing down the effects of the disease.

Music therapy for Alzheimer’s patients

Studies have shown that when patients who suffer from Alzheimer’s are led through songs that they recognize, their cognitive abilities are boosted, and they are able to recall memories and emotions tied to the songs. When participants with Alzheimer’s took a test on cognitive ability and life satisfaction, those that listened or sang during the test scored better in the test. Here are ways in which music could be beneficial to your loved one with Alzheimer’s.

Music evokes emotions that are attached to memories

Everyone has music pieces which are attached to very specific memories. These tied connections stay in the brain for decades, and the moment that the song is played, the attached emotions come flowing back, bringing with them the attached memories. Since a patient with Alzheimer’s is already having a hard time dealing with their memories, there is no better ways to trigger them than to play their favourite songs.

Musical aptitude and appreciation is the brain ability that stays the longest

As mentioned, people who suffer from Alzheimer go through a gradual loss of their cognitive abilities until their brain function completely deteriorates. However, the great news is that as the other abilities fade away, the ability to remember and appreciate music and the attached memories remains much longer than many others. This means that you can use music as a way of connecting with your loved one when they can no longer discuss their childhood or the memories which you made together. In addition, by playing music, you will make the person feel that they are still good at something, which makes them feel good.

Singing becomes a hobby

There is nothing that is more frustrating to a person with Alzheimer’s than the knowledge that they knew how to do something such as playing chess, but for some reason, they no longer can do it. Well, if your loved one’s condition has gotten to the point where they no longer remember these activities which they once used to enjoy, think about introducing music because it brings along fun games such as karaoke, sing along, and dancing games. Research shows that a simple act of watching music stimulates certain areas of the brain, which helps the patients exercise and polish their mind-power.

Music as a mood booster

People who have dementia tend to have a constant feeling of the blues and lots of episodes of stress induced agitation. Music has the ability to calm the listener’s nerves, elevate their mood and stimulate positive interactions with others. The good thing about music and especially the instrumental part of it is that it does not need a lot of cognitive processing, which means that it will not need a person with dementia to use their cognitive function to enjoy.

How to select the right music

The mental health and cognitive benefits that patients with Alzheimer’s get from listening to music are endless. It is therefore important to make sure that you include it in their daily routine. When choosing music for a loved one, always consider the following factors:

• Consider the preferences that your loved one used to have. Using music as a mood booster will only work when the music is something the person can relate with.
• To set the mood using music, play slow and mellow tunes when you want them to wind down and sleep. On the other hand, when you want them to get active, play faster beats.
• Encourage movement when playing the music by inviting the person to dance with you or asking them to sing along.
• When you are playing the music, try your best to cancel out all other sources of noise as you do not want to overstimulate their brain and agitate them.
• Pay attention to the response which they give to each type of music. The response is what will guide you towards ticking the songs they like and eliminating those that they do not.

Those are a few important things to know about the use of music to help Alzheimer’s patients cope better with their condition and enjoy life. Keep looking for creative ways to incorporate music into their day to day life, and this may even help them hold on to their memories for an even longer time.

 

This article is a guest post by Carolyn Ridland, the founder of CaregiverConnection. About 10 years ago, her parents began reaching the point where they could not be self-sufficient anymore. She was just married with two toddlers, so she felt like she couldn’t take them in, yet she wanted to make sure they were taken care of. Carolyn wanted to share her story, and to let others know that they are not alone if they are in a similar position. Children are expected to take care of their elderly parents when the time comes, but it’s not always that easy. Caregiver Connection emerged from a place of real love and compassion. They understand the struggle that exists when you care deeply about your loved ones, but you’re faced with decisions you never wanted to make. Their main message is that nobody should have to face these times alone.

 

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