What Is Batten Disease?

Overview

Batten disease was first documented in 1903 by Fredrik Batten. Previously, it referred to one type of the disorder, however, now ‘batten disease’ is commonly used to refer to all types of neuronal ceroid lipofuscinosises (NCLs). NCLs are a group of genetic metabolic disorders that are responsible for the majority of neurodegenerative ailments effecting children, of which there are 14 types.¹ Symptoms of batten disease usually devlop in childhood however, they may develop into adulthood. The disease progressivley worsens and eventually leads to death in most cases. Currently, there is no cure for batten disease.

Causes of batten disease

Batten disease is a genetic disease. It is caused by a genetic mutation (change) in a gene called CLN. There are 14 types of batten disease, and each one is caused by a different genetic mutation in the CLN gene. The mutations found in these genes mean a persons cells can’t break down and remove the waste they produce. As a result this cellular waste builds up. The build up of this cellular waste in the brain causes nervous system problems. As more cellular waste builds up in the brain, the associated nervous system issues worsen and eventually lead to death.¹

Batten disease is usually inherited in a recessive manner. This means both parents would have to be a ‘carrier’ of the genetic mutation that causes Batten disease and your child would have to have inherited a faulty copy of the CLN gene from each of you. 

An individual usually has 2 copies of each gene in their DNA. These copies are inherited from their biological parents. A carrier of Batten disease would have one copy of the mutated CLN gene. If you are a carrier, you will not have any symptoms of the disease and remain unaffected, however, you have the potential to pass this faulty gene onto your biological children. As you do not have any symptoms, it is impossible to know whether you are a carrier of the faulty gene without genetic testing. As the condition is rare, genetic testing is usually only offered if you have a family history of the disease.

If both you and your partner are carriers of a Batten disease associated genetic mutation, there is a 50% risk your child will inherit one copy of the faulty gene and therefore be a ‘carrier’ and a 25% risk your child may inherit two copies of the faulty CLN gene (one from each of you). Having 2 copies of the faulty CLN gene results in Batten disease.

It should be noted one of the adult subtypes of Batten disease is inherited in a dominant manner. Meaning only one copy of a faulty gene is enough to cause the disease onset. However, the adult forms of the disease tend to be milder.²

Signs and symptoms of batten disease

Signs and symptoms of Batten disease are similar across the different subtypes of the condition. However, the onset of disease may vary depending on the subtype. Babies and children with the condition exhibit normal development initially. This means they are meeting their developmental milestones. Their development will stop and decline. Symptoms will begin and worsen quickly. According to the ClevelandClinic the symptoms include:

• Progressive vision loss leading to blindness (this does affect adults with Battens disease)
• Seizures
• Cognitive problems (difficulties with learning and keeping up in school)
• Speech issues (including speech delays, stuttering repetition)
• Clumsiness (coordination, movement and balance issues)
• Tremors
• Tics
• Mucscle spasms
• Mood, personality or behaviour changes
• Dementia (mental decline)
• Weak limbs which progress to paralysis
• Hallucinations and psychosis
• Sleep problems
• Heart problems (e.g. arrhythmia - problem with heartbeat)
• Muscle rigidity or spasticity

Management and treatment for batten disease

There is no cure for Batten disease, therefore, current treatment options centre around alleviating symptoms and improving the quality of life for the individual.

Currently, there is only one drug available to treat Battens disease. However, this treatment is only applicable for children with a subtype of Battens disease caused CLN2. The medication is called cerliponase alfa (commonly known as Brineura). It is injected into the fluid that surrounds the childs brain every two weeks. It slows the loss of crawling/walking ability. However, the other symptoms of the condition are not slowed by this medicine.³

As this treatment isn’t avaible to most people with Battens disease and cannot alleviate all the disease symtpoms, a teams of healthcare providers are usually used to address the various symptoms of the disease. This can include professionals to prescribe drugs to manage seizures and prevent hallucinations and occupational and physical therapists to relieve muscle spasticity and retain mobility for longer in affected children.

Research into other promising treatments for Battens disease is ongoing. Until these other treatments become available, the focus of healthcare providers is to reduce the symptoms of this disorder.

FAQs

How is batten disease diagnosed

Firstly, your healthcare provider will ask about symptoms, family history and conduct a physical exam of you or your child. This physical exam may include an eye exam to check the health of the eye as progressive vision loss is often associated with Battens disease.

Following this a biopsy may be taken (usually a skin tissue sample) and checked for abnormalities. They look for abnormally large deposits of fats and proteins called lipofuscins. These are the waste molecules that accumulate in the cells causing the symptoms of the disease.

The above are indicators that Battens disease may be the cause of your symptoms, however, the only way to confirm a Battens disease diagnosis is through a DNA test. This involves your healthcare provider collecting a DNA sample from the symptomatic individual (this can be blood or saliva). This sample is then studied for mutations in Batten disease associated genes.⁴

How can I prevent batten disease

Batten disease cannot be prevented. However, if you have a family member with the disorder, genetic counseling should be available. They can help advise you on the likelihood of having a child with the disorder. If you are considering having children you may consider having a DNA test to check whether you and your partner are carries of faulty CLN genes.

What are the types of batten disease

There are 14 types of Batten disease. The classifications are based on the average age of onset for the condition and the specific gene that has the mutation.

The affected gene name CLN (ceroid lipofuscinosis, neuronal) is the start of the name for each type of Batten disease. This is then followed by a number from 1 to 14. ¹ For example, CLN3 is the most common juvenile form of Batten disease.

Who is at risk of batten disease

Individuals who have a family history of Batten disease on both sides of the family are at greatest risk.

How common is batten disease

Batten disease is rare. According the the ClevelandClinic it is estimated that 3 in 100,000 babies in the US and 1 in 25,000 babies are in Northern Europe are born with the disorder.

When should I see a doctor

If you or your child is displaying symptoms of Batten disease you should immediately see your healthcare provider. Despite the disease almost always being fatal, an earlier diagnosis can improve the quality of life for the individual.

If a family member has the disease, your healthcare provider may be able to offer genetic counseling and genetic testing before you have children.

Furthermore, if your child has been diagnosed with Batten disease it may be beneficial to ask your doctor about support groups for families affected by the disease. Caring for a child with a fatal disorder is extremely difficult but you should remember you are not alone. Support groups can give you the opportunity to share your experiences and learn from other parents of children who also have Batten disease.

Summary

To summarise, Batten disease refers to a usually fatal group of NCL genetic metabolic disorders. These cause a build up of waste materials in cells. The brain is particularly sensitive to this build up which results in various nervous system problem associated symptoms. Common symptoms include vision loss, clumsiness and seizures amongst others. Symtoms usually begin during infanthood or childhood and, in these cases the disease always results in death. Batten disease can also occur in adults, however, this is usually a milder form which does not result in vision loss and has a normal life expectancy. Currently, there is no treatment for the condition.