Parents usually discover the symptoms of Ataxia telangiectasia (AT) when their children are learning to walk.

Some children are born with cells that age faster than normal. A new study suggests that a dietary supplement might help them

The vitamin supplement offers hope to children with this rare disease for which there is no treatment.

Only a few people in Norway are affected by the hereditary disease Ataxia telangiectasia (AT).

AT leads to reduced functional ability due to damage in the cells. Those who have the disease lack the ability to repair the damage in their genetic material.

This results in faster ageing of the cells, especially in the cerebellum.

Gradually, these children experience increasing problems with coordination, motor skills, and eye movements.

Discovered when children start to walk

Parents usually notice the symptoms as the child learns to walk, as they do not learn to walk steadily.

What is Ataxia telangiectasia (AT)?

Individuals with AT have a mutation in a gene called ATM.

The result is cellular damage and early cell death in multiple organs. Key nerve cells in the cerebellum are destroyed. Gradually, other parts of the brain are also affected. This leads to, among other things, ataxia and difficulties with coordination and speech.

The genetic defect is inherited in an autosomal recessive manner. This means that both parents are carriers of the genetic defect and can pass it on.

The cells have a faster ageing process than in others, and individuals with AT therefore have a shorter expected lifespan.

The disease affects many organ systems in the body. Patients have immunodeficiency and an increased risk of certain types of cancer. The disease leads to a lower level of function due to the neurological symptoms.

Currently, there are no treatments for the disease.

There are currently no treatments for the disease.

However, Norwegian researchers have now shown that nicotinamide riboside (NR), a type of B vitamin, can help children and young people with the rare, hereditary disease.

Researches disease mechanisms

Hilde Loge Nilsen works as a researcher and section leader at Oslo University Hospital. She is behind a new clinical study on ten patients with AT. Seven children and three adults participated in the study.

Nilsen primarily focuses on basic research, aiming to understand how errors in DNA repair processes affect how we age.

For this work, she has used roundworms. The small, larva-like animals go through an entire life cycle in three weeks.

This makes them ideal subjects for ageing studies.

Increases the fuel in the cells

She and other basic researchers around the world have shown that it is possible to influence the ageing process. Among other things, with the help of a molecule called NAD. This functions as a fuel in our cells.

Levels of NAD decrease with age and deplete quickly in conditions where DNA repair is deficient.

Studies on both worms and mice have shown that by supplementing with Nicotinamide riboside (NR), the level of NAD can be increased. This results in a longer life and healthier older animals.

This approach has now also been tested on individuals with AT.

“We hoped for a good response in the youngest children but were surprised that the older patients also seemed to have a positive effect,” Nilsen says.

Must prepare for what's to come

Trudy Burgers is a specialist physiotherapist at Innlandet Hospital Trust. She has also participated in the study.

All children diagnosed with AT are offered annual follow-ups at the hospital, where they have extensive expertise in the disease.

Around 20 individuals with AT, from all over Norway, go to them for follow-ups, according to Burgers.

The entire research group. From left: Hilde Loge Nilsen, Trudy Burgers, Agnes Solberg, Asbjørg Stray-Pedersen, Anna B. Wennerström, Kirsten Mattson, Rebecca Presterud, and Wei Hai Deng.

Got more energy

Burgers shares that they have been assessing the changes in study participants over the two-year duration of the study.

“Throughout the study, we’ve carries out medical examinations and discussed their quality of life with them,” she says.

Many have noted an increase in energy after beginning with the supplement regimen, she says.

“The impact varies from person to person, but for the youngest children, it can mean that they manage better in kindergarten or at school,” she says.

“They experience less fatigue, allowing them to engage more in activities like excursions without needing to rest for the remainder of the day. The older participants have also found it easier to partake in recreational activities.”

Not better at standing and walking

The hope is always fewer symptoms, especially that patients will be able to stand and walk better.

“We have not achieved that in this study,” Burgers says.

Additionally, the patients exhibit numerous involuntary movements and struggle with coordination, which can complicate tasks like eating.

The disease also impacts eye muscles, crucial for activities like seeing, reading, and texting.

However, after using the NAD+ supplement, researchers have noted improvements in these areas.

“Though our research group is small, we have extensive data over the years on what to expect from these patients. This allows us to speak more confidently about observed improvements,” Burgers explains.

Should be recommended to all with AT

The researchers now want to proceed with a larger international study to see if they obtain similar results. They are already in the process of designing a larger study on this patient group in collaboration with researchers in the Netherlands.

Nilsen believes that now that they have shown the supplement to be safe, it should be considered for all patients with AT.

“I hope that a larger study can confirm the effect of the supplement in the very youngest, to give them a significant delay in the development of the disease,” Burgers says.

Lack of long-term studies

There is a lot of research on this substance all around the world, but many of the studies are very short, according to Nilsen.

“Our study is the longest interventional study that has been conducted so far. It has lasted for two years,” she says.

The researcher has chosen to administer a low dose of NAD+ to the patients.

“The reason we’re giving this substance to children and young people with AT in this study is that they overuse NAD. This is confirmed in blood tests. But I didn't feel that we had enough studies to administer a high dose over a long period of time. The type of study we are doing will also be relevant for other diseases, like Parkinson's and ALS,” she says.

When breast cancer researcher Anne-Lise Børresen-Dale became professor emeritus in 2016, she handed over historical material to her younger colleague Hilde Loge Nilsen.

That has made this study possible, according to Nilsen.

Breast cancer researcher Anne-Lise Børresen-Dale found the progenitor of the mutated gene in Rendalen.

Found the progenitor in Rendalen

Børresen-Dale is a molecular geneticist interested in cancer and heredity.

In the 1980s, she began working with AT patients and their families. What caught her interest was that the mothers of those affected had an increased risk of breast cancer.

After the gene mutated in AT patients was discovered, she and her group were able to map the Norwegian patients.

They discovered that many had the same mutation.

By connecting all the patients and their family trees, they found a common ancestor. He originated from Rendalen in Eastern Norway.

“We even went to Rendalen and found the farm where ancestor Arne, born around 1495, came from. He has passed this mutation on to several descendants,” Børresen-Dale says.

‘Incredibly exciting’

Mutations in this gene can arise in the germline of many individuals without causing illness.

Rarely, two individuals with the same mutation encounter each other and have children. That’s what happened to descendants of the original Rendal mutation.

“It’s incredibly exciting and fun that Nilsen and her colleagues have actually found some mechanisms that can be influenced and improve some of the symptoms. Treating these patients has been extremely challenging. This discovery offers hope,” Børresen-Dale says.


Translated by Alette Bjordal Gjellesvik

Read the Norwegian version of this article on


Presterud et al.: Long-Term Nicotinamide Riboside Use Improves Coordination and Eye Movements in Ataxia TelangiectasiaMovement Disorders, 2023. 

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