NIH scientists discover rare form of ALS in children linked to genes that help the body produce fat 

NIH scientists discover rare form of ALS in children linked to genes that help the body produce fat

  • Researchers have discovered the cause of a rare genetic form of ALS that appears in children 
  • The condition usually appears in adults aged 50 or older, and causes death in three to five years
  • The rare form is linked to a gene known as SPTLC1, which helps the body produce fat
  • Condition in children could be prevented or alleviated using a protein that silences the activity of the gene

Scientists have discovered a unique genetic form of the terminal disease amyotrophic lateral sclerosis (ALS) that attacks children. 

Researchers at the National Institutes of Health (NIH) and the Uniformed Services University found that the rare form of ALS begins at very young ages and worsens more slowly than other common forms of the illness.

What’s more, it was linked to a gene known as SPTLC1, which is part of the bodies’ fat production. 

The team found that silencing the gene could be a strategy in combatting the rare form of ALS. 

Researchers have found at least 11 rare cases of ALS showing up in children. They attribute the cases to a gene called SPTLC1 misfunctioning, either cause by genetics or a mutation. 

ALS is a motor neuron disease in which a patient slowly loses control of their voluntary muscle movement. 

The condition is more common among men than women, and usually occurs at older ages past 50, which troubled researchers when they began to discover the symptoms of it in younger children. 

Patients diagnosed with ALS will usually die within the first five years as their body quickly degenerates.  

The condition is sometimes referred to as  Lou Gehrig’s disease, after the legendary baseball player who began to struggle with the condition late in his playing career.

Somewhere between 12,000 to 15,000 Americans have the condition. 


ALS is an acronym for amyotrophic lateral sclerosis.

It is also referred to as motor neurone disease, or Lou Gehrig’s disease after the US baseball player when he was diagnosed in 1939 at just 36 years old.

The disease is a rare condition that progressively damages parts of the nervous system.

It occurs when specialist nerve cells in the brain and spinal cord called motor neurones stop working properly – known as neurodegeneration.

Life expectancy for about half of those with the condition is three years from the start of symptoms.

However, some people may live for up to 10 years, and in rarer circumstances even longer.

The condition can affect adults of all ages, including teenagers, although this is extremely rare.

It’s usually diagnosed in people over 40, but most people with the condition first develop symptoms in their 60s. It affects slightly more men than women.

There’s currently no cure for motor neurone disease.

Treatment aims to make the person feel comfortable and have the best quality of life possible

It also tries to compensate for the progressive loss of bodily functions such as mobility, communication, swallowing and breathing. 

‘ALS is a paralyzing and often fatal disease that usually affects middle-aged people.’ said Dr Carsten Bönnemann, senior investigator at the NIH’s National Institute of Neurological Disorders and Stroke, in a statement.

‘We found that a genetic form of the disease can also threaten children.

‘Our results show for the first time that ALS can be caused by changes in the way the body metabolizes lipids.

‘We hope these results will help doctors recognize this new form of ALS and lead to the development of treatments that will improve the lives of these children and young adults. 

‘We also hope that our results may provide new clues to understanding and treating other forms of the disease.’

Researchers conducted the study on 11 patients who showed signs of having the condition despite their young age. 

The first patient in the study was a young girl named Claudia Digregorio.

Digregorio needed a wheelchair to move and had a tracheostomy tube implanted in order for her to breathe.

She also showed many other symptoms of ALS. 

When analyzing the DNA of patients like Digregorio, researchers noticed changes in the SPLTC1 gene.

In some patients, the changes in the gene were genetic, coming from one of their patients.

In others, the changes where attributed to a mutation.

Scientists have found that a protein called ORMDL can often stop the activity of the proteins that cause this type of ALS to form in children, and believe that with more research they can find a way to stop the condition from progressing in patients.

‘These preliminary results suggest that we may be able to use a precision gene silencing strategy to treat patients with this type of ALS.  said Dr Bonnemann. 

‘Our ultimate goal is to translate these ideas into effective treatments for our patients who currently have no therapeutic options.’

The full study will be available in Nature Medicine on Monday.