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Batten Disease Fast Facts

Batten disease is a name for a group of fatal neurological disorders also known as neuronal ceroid lipofuscinosis (NCLs). The term Batten disease once referred to only one type of disease, but now it is often used to describe the entire group of NCLs.

Batten disease is estimated to affect between 2 and 4 out of every 100,000 children in the United States. In some parts of the world, the rate might be as high as 1 out of every 12,500.

Batten disease is a genetic condition that is passed from parent to child. Some people carry the disease-causing genes but aren’t affected by the disease themselves. These carriers can pass the disease-causing gene on to their children.

There is no cure for Batten disease, and all forms are eventually fatal.

What is Batten Disease?

Batten disease is a group of inherited neurological diseases called neuronal ceroid lipofuscinosis (NCLs). The diseases cause neurological symptoms that get worse over time, and NCLs are ultimately fatal. There are several different types of NCLs that are each caused by an abnormal variation (a mutation) in a different specific gene. The types produce similar symptoms, but they vary mostly in the age at which the symptoms first appear and the severity of the symptoms.

Symptoms of Batten Disease/NCLs

The symptoms of NCLs are caused by the buildup of toxic substances in the cells of the brain, the central nervous system, and the eyes. These substances interfere with the normal functioning of the cells and cause progressive cell damage. Common symptoms include:

  • Seizures
  • Vision loss
  • Delays in motor and speech development
  • Changes in personality or behavior
  • Loss of motor and speech skills
  • Dementia

Types of Batten Disease/NCLs

NCLs are broadly classified into four different types depending on the stage of life at which the symptoms first develop.

  • Congenital NCL. Babies with this form of the disease experience symptoms, often seizures, at birth. They often have abnormally small heads (microcephaly), and most die soon after birth.
  • Infantile NCL (INCL). This form of the disease usually first appears between 6 and 12 months. These babies might also have microcephaly, and the disease is usually fatal before the child reaches 5 years of age.
  • Late Infantile NCL (LINCL). The symptoms of this form of the disease, typically seizures, usually first occur between the ages of 2 and 4. The life expectancy of children with this form of NCL is between 8 and 12 years old. Some variations of LINCL have different characteristics and a later age of onset.
  • Adult NCL (ANCL). This type of disease usually shows up before the age of 40. Symptoms are generally milder and progress more slowly than those of the childhood forms of the disease. The disease is ultimately fatal, however, and life expectancy is shorter than the typical adult life expectancy.

*The medical information we gather and publish is vetted and intended to be up to date, accurate and express a spectrum of recognized scientific and medical points of view. The information comes from a nucleus of informed scientists, medical doctors, peer-reviewed scientific journals and the National Institute of Health. Please note, differing points of view among scientists and physicians are common. Every effort is employed to ensure the accuracy of these different points of view. That notwithstanding, it is incumbent on persons using this information to consult with his/her physician before reaching any conclusions. Our medical information and publications are not intended to be a substitute for consultation with one’s physician.

What Causes Batten Disease?

NCLs are caused by mutations in genes responsible for making proteins that are crucial for brain cell function. Specifically, the proteins assist in the function of cell structures called lysosomes, which break down cell waste products. The NCL-causing gene mutations interfere with the production of these proteins so that lysosomes can’t effectively remove the waste products. As the harmful wastes build-up, the cells don’t function properly and are eventually damaged.

Different forms of the disease are caused by mutations in different genes. The variations generally result in different times for the onset of symptoms, and they may also influence the severity and progression rate of the symptoms.

*The medical information we gather and publish is vetted and intended to be up to date, accurate and express a spectrum of recognized scientific and medical points of view. The information comes from a nucleus of informed scientists, medical doctors, peer-reviewed scientific journals and the National Institute of Health. Please note, differing points of view among scientists and physicians are common. Every effort is employed to ensure the accuracy of these different points of view. That notwithstanding, it is incumbent on persons using this information to consult with his/her physician before reaching any conclusions. Our medical information and publications are not intended to be a substitute for consultation with one’s physician.

Is Batten Disease Hereditary?

Most forms of Batten disease are autosomal recessive, meaning a child must inherit a copy of the mutated disease-causing gene from both their mother and their father. The child inherits one copy of each gene from each parent, and if they inherit a mutated copy and a normal copy, the disease won’t develop. The disease only occurs when two mutated copies are inherited.

The disease’s recessive trait means that a person can possess one copy of the mutated gene without developing symptoms of the disease. In this case, the person is a carrier of the disease. If they have a child with another carrier, that child will have a 25% chance of developing Batten disease and a 50% chance of being a carrier themselves.

In some cases, adult-onset NCL can be autosomal dominant. In this case, the disease will develop even if the individual has only inherited one copy of the mutated gene.

*The medical information we gather and publish is vetted and intended to be up to date, accurate and express a spectrum of recognized scientific and medical points of view. The information comes from a nucleus of informed scientists, medical doctors, peer-reviewed scientific journals and the National Institute of Health. Please note, differing points of view among scientists and physicians are common. Every effort is employed to ensure the accuracy of these different points of view. That notwithstanding, it is incumbent on persons using this information to consult with his/her physician before reaching any conclusions. Our medical information and publications are not intended to be a substitute for consultation with one’s physician.

How is Batten Disease Detected?

The earliest signs of Batten disease are usually seizures and/or vision loss. Less obvious early signs include slow motor and cognitive development, clumsiness, and changes in behavior or personality.

There is no cure for Batten disease or any treatment that will reverse the symptoms, so early detection will not improve the prognosis. However, an early diagnosis can help families come to terms with the disease and improve the child’s quality of life as the disease progresses.

*The medical information we gather and publish is vetted and intended to be up to date, accurate and express a spectrum of recognized scientific and medical points of view. The information comes from a nucleus of informed scientists, medical doctors, peer-reviewed scientific journals and the National Institute of Health. Please note, differing points of view among scientists and physicians are common. Every effort is employed to ensure the accuracy of these different points of view. That notwithstanding, it is incumbent on persons using this information to consult with his/her physician before reaching any conclusions. Our medical information and publications are not intended to be a substitute for consultation with one’s physician.

How is Batten Disease Diagnosed?

In its early stages, Batten disease is sometimes misdiagnosed, with epilepsy, seizure disorders, autism, and pervasive developmental disorder (PDD) often being suspected. However, a number of different tests can help to confirm the presence of NCL.

  • Genetic testing. These tests look for the specific gene mutation that causes NCLs, and they are the tool most commonly used to diagnose Batten disease. Testing for NCLs is now commonly done when diagnosticians conduct genetic testing for epilepsy. These tests can also identify a carrier of the disease-causing gene even when symptoms aren’t present.
  • Blood or urine tests. These tests can identify chemicals or abnormal white blood cells that are characteristic of some types of NCL.
  • Enzyme tests. These tests look for the activity of chemicals within cells that are common in certain types of NCL.
  • Tissue samples. Microscopic examination of skin cells or other tissues can show the buildup of lipofuscin, a chemical accumulation that indicates NCLs.
  • Electroencephalogram (EEG) and imaging exams. These tests can identify patterns of brain activity or brain structure that can suggest Batten disease is present.

PLEASE CONSULT A PHYSICIAN FOR MORE INFORMATION.

*The medical information we gather and publish is vetted and intended to be up to date, accurate and express a spectrum of recognized scientific and medical points of view. The information comes from a nucleus of informed scientists, medical doctors, peer-reviewed scientific journals and the National Institute of Health. Please note, differing points of view among scientists and physicians are common. Every effort is employed to ensure the accuracy of these different points of view. That notwithstanding, it is incumbent on persons using this information to consult with his/her physician before reaching any conclusions. Our medical information and publications are not intended to be a substitute for consultation with one’s physician.

How is Batten Disease Treated?

There is no treatment that will cure Batten disease or improve its symptoms.

In 2017, the Food and Drug Administration approved a medication that has shown the ability to slow or stop the progression of symptoms in one specific type of NCL called CLN2, a late-onset type of the disease. The drug, called cerliponase alfa, replaces a crucial enzyme whose production is inhibited by the disease-causing gene. The medication is only effective in treating CLN2 and can’t be used to treat other forms of the disease.

Medications such as antiseizure drugs are sometimes used to control the symptoms of Batten disease, and physical and occupational therapies may help improve the child’s quality of life as long as possible.

*The medical information we gather and publish is vetted and intended to be up to date, accurate and express a spectrum of recognized scientific and medical points of view. The information comes from a nucleus of informed scientists, medical doctors, peer-reviewed scientific journals and the National Institute of Health. Please note, differing points of view among scientists and physicians are common. Every effort is employed to ensure the accuracy of these different points of view. That notwithstanding, it is incumbent on persons using this information to consult with his/her physician before reaching any conclusions. Our medical information and publications are not intended to be a substitute for consultation with one’s physician.

How Does Batten Disease Progress?

Children often appear to be healthy before the first symptoms of Batten disease appear. Once symptoms begin, they become progressively worse until motor and cognitive functions are severely impaired. Eventually, sufferers will entirely lose the ability to see, walk, and communicate.

Progressive symptoms include:

  • Seizures
  • Vision impairment and loss
  • Abnormal, jerky movements
  • Personality or behavior changes
  • Confusion or trouble concentrating
  • Learning disabilities
  • Trouble walking
  • Loss of motor and/or cognitive skills that the child had previously acquired
  • Sleep disruption
  • Anxiety or depression
  • Dementia
  • Loss of the ability to walk or speak
  • Total loss of cognitive function

*The medical information we gather and publish is vetted and intended to be up to date, accurate and express a spectrum of recognized scientific and medical points of view. The information comes from a nucleus of informed scientists, medical doctors, peer-reviewed scientific journals and the National Institute of Health. Please note, differing points of view among scientists and physicians are common. Every effort is employed to ensure the accuracy of these different points of view. That notwithstanding, it is incumbent on persons using this information to consult with his/her physician before reaching any conclusions. Our medical information and publications are not intended to be a substitute for consultation with one’s physician.

How is Batten Disease Prevented?

When a child inherits the disease-causing gene mutations from both parents, there is no way to prevent the disease from developing. In the case of the dominant variant of adult-onset NCL, even a single copy of the mutated gene will inevitably cause the disease.

If you have a family history of the disease, there is a chance that you are carrying a copy of the gene mutation and could pass the mutation on to your children. Genetic testing can confirm whether or not you are a carrier, and a genetic counselor can help you assess the risk of passing on the disease.

*The medical information we gather and publish is vetted and intended to be up to date, accurate and express a spectrum of recognized scientific and medical points of view. The information comes from a nucleus of informed scientists, medical doctors, peer-reviewed scientific journals and the National Institute of Health. Please note, differing points of view among scientists and physicians are common. Every effort is employed to ensure the accuracy of these different points of view. That notwithstanding, it is incumbent on persons using this information to consult with his/her physician before reaching any conclusions. Our medical information and publications are not intended to be a substitute for consultation with one’s physician.

Batten Disease Caregiver Tips

A diagnosis of Batten disease is devastating for any parent. There are some things you can do to help your child and your family to live with the disease and to treasure the time that you have together.

  • Be a fierce advocate for your child. With the right support and resources, you can help your child to have the best possible life for as long as possible. But you’ll likely have to push insurers, healthcare providers, and educators to give you everything you need. Mustering the strength to be a persistent voice for your child isn’t easy, but you will be glad that you never stopped fighting.
  • Don’t repress your grief. Acknowledging and accepting your loss doesn’t mean that you’ve given up. When you allow yourself to move through the process of grieving, you’ll be better able to appreciate the beautiful moments you still have with your child.
  • Don’t try to cope by yourself. NCLs are rare diseases, and you might feel isolated when your child is diagnosed. But the support of people who understand what you’re going through is invaluable as you live with the disease. Online resources can help you find support groups, information, and news about Batten disease.

*The medical information we gather and publish is vetted and intended to be up to date, accurate and express a spectrum of recognized scientific and medical points of view. The information comes from a nucleus of informed scientists, medical doctors, peer-reviewed scientific journals and the National Institute of Health. Please note, differing points of view among scientists and physicians are common. Every effort is employed to ensure the accuracy of these different points of view. That notwithstanding, it is incumbent on persons using this information to consult with his/her physician before reaching any conclusions. Our medical information and publications are not intended to be a substitute for consultation with one’s physician.

Batten Disease Brain Science

Researchers are working to learn more about Batten disease so that they can develop effective treatments or perhaps even cure the disease. Because different forms of NCL are caused by different gene mutations with different chemical effects, many of the treatments and therapies pursued by scientists are meant to treat only one form of the disease.

Current areas of research include:

  • Gene therapies. These therapies involve introducing a replacement gene into brain cells with the hope that the properly functioning gene will counter the effects of the mutated genes in NCL patients. The replacement genes are delivered by attaching them to a harmless virus that introduces the gene into cells as directed by scientists. One project has combined gene therapy and bone marrow transplants as a possible treatment for infantile NCL.
  • Molecular drugs. These drugs work by introducing chemical molecules that may help the cells to eliminate or recycle the waste products that cause the symptoms of Batten disease. Studies are pursuing the possible use of NtBuHA and lanthionine ketamine to treat the CLN1 form of the disease.
  • Glutamate regulation. Another project is studying the way that the amino acid glutamate is recycled in brain cells. An excess of glutamate has been found in the brain cells of patients with the CLN3 form of the disease, and the chemical may be responsible for the symptom-causing cell damage. The project is attempting to develop chemical therapies that may help cells regulate and recycle glutamate.

*The medical information we gather and publish is vetted and intended to be up to date, accurate and express a spectrum of recognized scientific and medical points of view. The information comes from a nucleus of informed scientists, medical doctors, peer-reviewed scientific journals and the National Institute of Health. Please note, differing points of view among scientists and physicians are common. Every effort is employed to ensure the accuracy of these different points of view. That notwithstanding, it is incumbent on persons using this information to consult with his/her physician before reaching any conclusions. Our medical information and publications are not intended to be a substitute for consultation with one’s physician.

Batten Disease Research

Scientists are working on several research projects to expand on what is known about Batten Disease.  The research will improve knowledge about the factors that increase the risk for Batten Disease, as well as the causes, and best treatments, and will aid people living with Batten Disease and their caregivers.

We are currently gathering the information required to support projects such as Gene Therapy for Children With CLN3 Batten Disease, Clinical and Neuropsychological Investigations in Batten Disease, and UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells (DUOC-01).

*The medical information we gather and publish is vetted and intended to be up to date, accurate and express a spectrum of recognized scientific and medical points of view. The information comes from a nucleus of informed scientists, medical doctors, peer-reviewed scientific journals and the National Institute of Health. Please note, differing points of view among scientists and physicians are common. Every effort is employed to ensure the accuracy of these different points of view. That notwithstanding, it is incumbent on persons using this information to consult with his/her physician before reaching any conclusions. Our medical information and publications are not intended to be a substitute for consultation with one’s physician.

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