Batten disease (also known as late infantile
neuronal ceroid lipofuscinosis, or LINCL)
Late infantile neuronal ceroid lipofuscinosis (LINCL) is
a progressive, neurodegenerative disease associated with cognitive impairment,
vision loss, seizures and poor motor function.
It is sometimes called Batten disease, which describes a group of
diseases including LINCL.
What causes late infantile neuronal ceroid lipofuscinosis?
The disease is caused by mutations in a gene (CLN 2) that results in a build up of proteins in
the brain and retina (tissue in the eye), leading to cell death and
damage. LINCL is an autosomal recessive
disease, meaning that both parents carry an abnormal gene (carriers), and a
child must inherit one copy of this defective gene from each parent in order to
be affected. If both parents are
carriers, each child has a one in four chance of inheriting the disease. It is rare, affecting 0.36- 0.46 per 100,000
live births.
Signs and symptoms of LINCL
The symptoms of LINCL occur around 2 to 3 years of age and
include vision loss, seizures, dementia (loss of mental ability enough to
interfere with daily activities) and unsteadiness. The disease is suspected when these symptoms are present. A brain MRI may show loss of brain gray matter (atrophy). A detailed
eye examination may reveal a pale eye nerve (optic disc pallor) and pigmentary
changes in the retina, particularly the macula. The disease is confirmed by testing for gene activity in the blood.
Management is focused on treating the symptoms
There is no cure for LINCL, and management is focused on treating the symptoms, such as seizures and poor motor function, with medications and therapy. Stem cell
therapy has not shown to be effective, but further research is ongoing. Current research is also looking at direct central nervous system vector mediated gene therapy, meaning that normally functioning CLN 2 DNA will be delivered directly into the brain to see if that
gene will start working in the brain, thus stopping the progression of the
disease.
Currently, children with LINCL are usually unable to walk independently and cannot see by 6 years of age; death occurs by age 8 to 12 years.