Juvenile Batten Disease

Juvenile Batten disease is a rare, inherited neurodegenerative disorder. It is the most common of the five types of Batten disease, also known as neuronal ceroid lipofuscinoses (NCL). It is sometimes referred to as CLN3 disease or Spielmeyer-Vogt-Sjogren-Batten disease.

While it is not known exactly how frequently juvenile Batten disease occurs, more than 400 cases can be found in the scientific literature.

Causes of juvenile Batten disease

Juvenile Batten disease usually develops between the ages of 5 and 10. It is caused by mutations in the CLN3 gene, which provides instructions to make a protein called battenin. The condition is inherited in an autosomal recessive way, meaning the disease only develops if both copies of the CLN3 gene are mutated.

Juvenile Batten disease, like other forms of Batten disease, is characterized by the buildup of fatty substances, known as lipofuscin, within lysosomes. Mutations in the CLN3 gene lead to a reduction in the amount of functional battenin, which is found in the membranes of lysosomes and endosomes. These are compartments within the cell that break down substances that are no longer needed. Lipofuscin accumulation occurs in many cell types within the body, but brain cells are particularly sensitive, leading to neurological decline. The exact function of battenin is not known, and it is not understood how the protein’s deficiency contributes to the problems associated with juvenile Batten disease.

First symptoms and progression of juvenile Batten disease

One of the early signs of juvenile Batten disease is impaired vision, usually occurring between the ages of 5 and 8. Vision changes rapidly, and might be completely lost by late childhood or adolescence.

Around the same age, children start having difficulties concentrating and learning new information. They also lose previously acquired skills and have problems speaking in complete sentences.

During adolescence, patients develop movement abnormalities where muscles become rigid and stiff, causing them to move slowly and have a stooped posture. Eventually, patients lose the ability to walk independently and require a wheelchair.

In rare cases, patients develop heart problems during adolescence or early adulthood, including an increase in the size of the heart muscle, a condition known as hypertrophic cardiomyopathy, and heart rhythm abnormalities.

Around 10 years old, seizures start to occur, the first of which are usually motor seizures, characterized by stiff muscles, loss of consciousness, and jerking movements. Later on, different types of seizures may develop, which may change over time.

Juvenile Batten disease patients usually live until their late teens or early 20s, but may occasionally live longer.

Diagnosing juvenile Batten disease

Juvenile Batten disease is initially diagnosed based on symptoms and the age at which they appear.

Vacuolated lymphocytes, which are blood cells containing holes or cavities, are a typical feature of juvenile Batten disease, and can be detected with a blood test.

The diagnosis is confirmed by genetic testing where mutations in the CLN3 gene are checked against existing mutations listed in the NCL mutation database.

Treatment of juvenile Batten disease

There is currently no cure for juvenile Batten disease, and available treatments focus on easing the symptoms.

Seizures can be controlled with anticonvulsants. Because the types of seizures change over time, patients usually receive more than one kind of anticonvulsant over the course of their disease.

Immunosuppressants, agents that reduce the activity of the immune system, can decrease the death of brain cells and improve motor function. Although most immunosuppressants are not approved for use in children, CellCept (mycophenolate mofetil) is an exception, and has shown promising results in a clinical trial.

Gene therapy, which involves the delivery of the functional CLN3 gene to the patient’s body using a harmless virus, and stem cell therapy, the transplantation of healthy human stem cells that have the intact CLN3 gene, are experimental therapies in development for the treatment of juvenile Batten disease.


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