Batten disease, also known as neuronal ceroid lipofuscinosis, refers to a group of rare inherited neurological conditions that can cause vision loss, progressive motor and cognitive decline, and seizures.
The disease is thought to affect 2 to 4 of every 100,000 people living in the U.S., and about 1 in every 100,000 worldwide. It takes its name from British pediatrician Frederick Batten, who first described its symptoms in 1903.
Types of Batten disease
There are different types of Batten disease, classified according to the patient’s age at the onset of symptoms. Disease symptoms can be manifested at birth (congenital), or appear during childhood (infantile, late infantile, and juvenile) or adulthood.
Childhood forms of Batten are the most common, often appearing between the ages of 5 and 10 as vision problems or epilepsy (seizures) — or simply as problems with learning and general clumsiness.
The less common adult form generally begins around age 30 and causes milder symptoms that progress slowly. It normally does not cause blindness.
Causes of Batten disease
Batten disease is a genetic condition most commonly inherited in an autosomal recessive manner, in which a person inherits two defective gene copies, one each from the mother and father. There are cases of autosomal dominant inheritance in Batten patients, among those whose disease starts in adulthood. That means that only one defective gene copy has to be inherited for the disease to manifest.
Several genetic mutations have been linked to Batten disease. These mutations all affect the ability of cells to get rid of waste products, leading to a buildup of substances that are toxic to tissues in the body, especially to nerve cells in the brain and cells of the eye, as well as in the skin and other tissues.
Specifically, the disease is linked to the buildup of lipofuscins, made up of fats and proteins, in tissues. These substances are found in the part of a cell called the lysosome; lysosomes are responsible for clearing cells of waste products and damaged products.
Progressive cell damage and death lead to the range of neurological and other symptoms seen in Batten patients.
Symptoms of Batten disease
The symptoms of Batten disease can differ widely among individuals in terms of their appearance and progression, due to the different disease-causing mutations.
In forms that develop early in life, symptoms can begin insidiously as subtle behavior and personality changes, clumsiness, or slow learning. Progressive vision loss, seizures, and loss of motor skills are likely, and these patients often eventually develop Parkinson’s-like movement difficulties and severe dementia. Many become bedridden.
People with the adult forms of Batten disease tend to have much less severe symptoms and can have a normal life expectancy.
Diagnosis of Batten disease
Batten can be challenging to diagnose because many of its symptoms are not specific to the disease. Indeed, patients often are tested for or diagnosed with a variety of disorders before a conclusive diagnosis of Batten is reached.
To diagnose Batten, doctors need the patient’s medical and family history, and information from several laboratory tests. These can include blood and urine tests, skin sampling, brain scans, and/or an electroencephalogram (a measurement of electrical brain activity). Other tests to determine abnormal electrical signals in the parts of the brain that control vision also may be performed to aid diagnosis.
An eye examination to look for specific cell deposits that occur in Batten disease may be requested.
Because some forms of Batten disease involve the lack of certain enzymes, enzyme level testing may be needed. Genetic tests for Batten disease-related genes can be done to confirm the diagnosis.
Treatment and prognosis
The only treatment currently approved by the U.S. Food and Drug Administration specifically to treat Batten disease is Brineura (cerliponase alfa), an enzyme replacement therapy designed to slow the loss of walking ability in children with a type of late-infantile Batten disease called CLN2.
While no cure exists, other available treatments, such as anti-seizure medications, can help to control disease symptoms. Physiotherapy and occupational therapy may aid in maintaining patients’ ability to carry out day-to-day activities.
Research is ongoing into ways to possibly treat Batten disease, including gene therapy, enzyme replacement therapy, small molecule carriers, stem cell therapy, and RNA and lysosomal modifiers.
Last updated: Oct. 15, 2021
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