Batten disease, or Neuronal Ceroid Lipofuscinosis (NCL), is a family of rare diseases caused by autosomal recessive genetic mutations resulting in the body. These genetic mutations disrupt the cells’ ability to dispose of wastes. Cells are thrown out of balance with the build-up of proteins and lipids (fats).
There are 13 known forms of Batten disease and you will often hear them referred to as CLN1-CLN14 (there is no CLN9). It is estimated that 2-4 births out of every 100,000 births in the United States are affected by Batten disease, though some researchers in the field suggest these numbers are too low. Worldwide, it is estimated that there are 14,000 Batten patients.
A difficult diagnosis
Every year, hundreds of children and their families cope with the diagnosis of Batten disease with strength, courage, and commitment. Children and adults with this rare neurodegenerative disorder have inherited genetic material from their parents that, after some years, begin to impact their daily lives. When it does, families are often in shock when they see their seemingly normal loved one changing (sometimes quickly) and without an apparent cause.
The symptoms of Batten disease stem from its classification as a lysosomal storage disorder, interfering with cells’ ability to break down wastes. The build-up of waste (lipofuscin) causes cell death and leads to the early death of children and some adults. During the progression of the disease, which varies by type, the affected child or adult can experience a combination of some of the below characteristics. It is important to note, each presentation is unique and not all symptoms are present in every phenotype.
Symptoms may include:
- Seizures
- Visual impairment/blindness
- Personality and behavior changes
- Ataxia
- Myoclonus
- Dementia
- Cognitive decline
- Psychiatric symptoms (i.e. aggression)
- Extrapyramidal symptoms (i.e. spasms, restlessness, rigidity, tremors, jerky movements)
- Loss of motor skills and the ability to walk, talk and, communicate
Although there is currently no cure for Batten disease, there is a lot of promising research in many forms of the disease. One form, CLN2, has an approved enzyme therapy treatment and the research and medical communities are looking into gene therapies, small molecule treatments, and other disease-altering options.