Batten disease is a group of diseases that includes late infantile neuronal ceroid lipofuscinosis (LINCL), a progressive, neurodegenerative disease associated with cognitive impairment, vision loss, seizures and poor motor function.
The disease is caused by a gene mutation (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. The disease is rare, affecting 0.36 to 0.46 children per 100,000 live births.
Diagnosis & Treatment
The symptoms of LINCL occur around 2- to 3-years-old and include vision loss, seizures, dementia (loss of enough mental ability to interfere with daily activities) and unsteadiness. The disease should be 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 appropriate gene activity in the blood.
There is no cure for LINCL and management is focused on treating the symptoms, such as seizures and poor motor function, with medication and therapy. Stem cell therapy has not shown to be effective, but research is ongoing. Current research also involves direct central nervous system vector mediated gene therapy, meaning that normally functioning CLN 2 DNA will be delivered directly into the brain to determine 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-old; death occurs by 8- to 12-years-old.