Author: Erika Augustine, MD, MS, Kennedy Krieger Institute
Reviewed: February 2022

SUMMARY

Batten disease refers to a group of disorders that affect the nervous system. These disorders are also known as neuronal ceroid lipofuscinoses, or NCLs. Each disorder also has a name related to the gene that causes that particular form of Batten disease. For instance, one form is called CLN1 disease because the gene mutation that causes it is in the CLN1 gene.  

Batten disease is a rare, inherited condition that typically begins in childhood. There are many forms of Batten disease. In Batten disease, one of the genes CLN1 through CLN14 are affected by a mutation. This causes CLN1 disease, CLN2 disease, CLN3 disease, and so on. There are 13 recognized genes that cause Batten disease in total (CLN9 is no longer included). 

Disorder Overview

DESCRIPTION

In Batten disease, a mutation in the one of the CLN genes means the body’s cells are unable to properly eliminate waste. This waste builds up in a part of the cell called the lysosome. The buildup can be seen under a microscope in certain skin cells and blood cells, and in cells from other organs.  

The genetic changes and the waste buildup cause the body’s cells to function poorly. Some cells die. The cells of the brain, eyes, and heart are especially sensitive to this. The main symptoms of Batten disease come from cells in the brain, eyes, and heart that are not functioning well. 

The severity of Batten disease can vary: 

• More severe. In most forms, symptoms begin in childhood, worsen over time, and lead to death.  
• Less severe. Milder forms of Batten disease are less common. These forms may have one or two main symptoms, such as blindness or impaired coordination. They are not fatal. 

There is a treatment available for CLN2 disease that slows down the process of symptoms getting worse. Research is ongoing for almost all forms. However, at this time, there is not a disease-specific treatment for other forms. Still, there are medications and therapies that can help to treat symptoms and improve a patient’s quality of life. 

SIGNS AND SYMPTOMS

People with Batten disease can develop:

There are certain groups of symptoms that lead doctors to consider a diagnosis of Batten disease. These include: 

• Loss of developmental milestones (in infants or young children) 
• Other neurological symptoms, in addition to: 
  • Seizures that are difficult to control with medication
  • Multiple types of seizures 
  • Vision loss 
• An unsteady walk that gets worse over time, in addition to abnormal images of the brain 

Differences Between Forms of Batten Disease 

CAUSES

Batten disease is caused by a genetic change. There are at least 13 different genes associated with Batten disease. Each form is labeled by the name of the affected gene. For instance, if a child’s CLN1 gene is affected, the child will have the CLN1 form of Batten disease, or CLN1 disease.  

Batten disease is typically inherited in an autosomal recessive manner. This means that two copies of a mutated gene are needed to cause the disease. In most cases, one copy is inherited from each parent. Parents, who have only one copy of the mutated gene each, are unaffected. All of the forms of Batten disease except for CLN4 disease are passed down in this way.  

 CLN4 is inherited in an autosomal dominant manner, so only one copy of the mutated CLN4 gene is necessary to cause disease.  

LABORATORY INVESTIGATIONS

Diagnostic Testing

Further Testing 

 Various other testing can help with: 

• Understanding if a Batten disease diagnosis is possible 
• Determining the extent of Batten disease 
• Clarifying what symptoms are present and how to treat them 

Some of these tests include: 

Each of these tests may need to be repeated. This is especially true if symptoms change or if families have new questions about treatment.  

TREATMENT AND THERAPIES  

 The treatments used for the symptoms of Batten disease are the same as those used for other neurological disorders. The specific treatments, doctors, and therapists each child will need depends on the symptoms that child experiences.  

Treating CLN2 Disease: 

 For children with CLN2 disease who are at least 3 years old, there is treatment available. This medicine slows the worsening of the disease over time. This type of treatment is called a “disease-modifying therapy.”  

 There is an option available that replaces the enzyme that is missing in CLN2 disease. Discuss treatment options with your doctor to understand how they impact the disease outcome.  

OUTLOOK  

 At this time, there are no cures for Batten disease. Occasionally, symptoms can be moderate in severity. However, they typically are serious, worsen with time, and cause early death. Treating the symptoms of Batten disease can be helpful in improving quality of life and preventing complications.   

RELATED DISORDERS 

 All of the forms of Batten disease are classified within a broader family of conditions called “lysosomal storage diseases.” Some lysosomal storage diseases cause similar symptoms to Batten disease. Others cause symptoms related to the bones, the liver, or other organs, but spare the nervous system.  

There are a number of other metabolic disorders that can cause symptoms similar to the Batten disease. These include: 

• Leukodystrophies 
• Niemann-Pick type C 
• Rett syndrome 

Research 

ClinicalTrials.gov for Batten Disease (birth to 17 years). These are clinical trials that are recruiting or will be recruiting. Updates are made daily, so you are encouraged to check back frequently.   

ClinicalTrials.gov is a database of privately and publicly funded clinical studies conducted around the world. This is a resource provided by the U.S. National Library of Medicine (NLM), which is an institute within the National Institutes of Health (NIH). Listing a study does not mean it has been evaluated by the U.S. Federal Government. Please read the NLM disclaimer for details.    

Before participating in a study, you are encouraged to talk to your health care provider and learn about the risks and potential benefits.   

The information in the CNF Child Neurology Disorder Directory is not intended to provide diagnosis, treatment, or medical advice and should not be considered a substitute for advice from a healthcare professional. Content provided is for informational purposes only.  CNF is not responsible for actions taken based on the information included on this webpage. Please consult with a physician or other healthcare professional regarding any medical or health related diagnosis or treatment options. 

References

Augustine EF, Adams HR, de Los Reyes E, Drago K, Frazier M, Guelbert N, Laine M, Levin T, Mink JW, Nickel M, Peifer D, Schulz A, Simonati A, Topcu M, Turunen JA, Williams R, Wirrell EC, King S. Management of CLN1 disease: International clinical consensus. Pediatr Neurol. 2021 Jul;120:38-51. https://doi.org/10.1016/j.pediatrneurol.2021.04.002. Epub 2021 Apr 9. PMID: 34000449. 

Mink JW, Augustine EF, Adams HR, Marshall FJ, Kwon JM. Classification and natural history of the neuronal ceroid lipofuscinoses. J Child Neurol. 2013 Sep;28(9):1101-5. https://doi.org/10.1177/0883073813494268. Epub 2013 Jul 9. PMID: 23838030; PMCID: PMC3979348.  

Mole SE, Schulz A, Badoe E, Berkovic SF, de Los Reyes EC, Dulz S, Gissen P, Guelbert N, Lourenco CM, Mason HL, Mink JW, Murphy N, Nickel M, Olaya JE, Scarpa M, Scheffer IE, Simonati A, Specchio N, Von Löbbecke I, Wang RY, Williams RE. Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients. Orphanet J Rare Dis. 2021 Apr 21;16(1):185. https://doi.org/10.1186/s13023-021-01813-5. PMID: 33882967; PMCID: PMC8059011.