Late infantile Batten disease is a form of Batten disease, the name given to a group of inherited conditions also known as neuronal ceroid lipofuscinoses.
It occurs in children, typically ages 2 to 4, and is characterized by seizures, loss of motor skills and cognitive ability, and a reduced life expectancy.
This Batten type may sometimes be referred to as Jansky-Bielschowsky disease, or CLN2 disease.
Late infantile Batten disease is caused by mutations in genes which code for proteins involved in breaking down protein waste in the lysosome, a cellular compartment that functions as “the trash collector” of the cell, because it stores cellular waste until the waste can be destroyed or recycled.
When mutations occur in the CLN2 gene, the disease is usually called classic late-infantile Batten and is due to defects in the production of a lysosomal enzyme called tripeptidyl peptidase1 or TPP1.
However, mutations have also been identified in the CLN1, CLN5, CLN6, CLN7 and CLN8 genes.
Mutations in these genes causes a buildup of waste inside cells composed of fat and proteins called lipofuscins. These lipofuscins poison cells, eventually killing them. Nerve cells are particularly sensitive to the harmful effects of lipofuscins. That is why people with late infantile Batten disease develop neurological symptoms.
The earliest symptoms of late infantile Batten disease are vision loss and seizures, although children may also develop muscle twitches (myoclonus) and have difficulty walking and maintaining balance (ataxia). Children with this disease may also be slow to learn, and regress in mental or motor development once symptoms appear.
Brineura (cerliponase alfa) is an enzyme replacement therapy designed to slow the loss of walking ability in children with CLN2 Batten disease. It works by delivering the missing TTP1 enzyme directly into the cerebrospinal fluid through a surgically implanted catheter in the brain. The cerebrospinal fluid is the liquid that surrounds the brain and spinal cord.
It is the only treatment approved by the U.S. Food and Drug Administration for use in patients with any form of Batten disease.
Last updated: Oct. 4, 2021
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