What is Batten Disease?

Batten disease is an inherited neurological disease that is often fatal. It usually develops during childhood, between the ages of 5 and 10 years. The earliest symptoms range from being fairly obvious, with a child experiencing seizures or vision problems, through to subtle signs such as mild personality changes or clumsiness.

Pathology and manifestations of Batten disease

Batten disease is also known as Spielmeyer-Vogt-SjögrenBatten disease and is the most common of the diseases collectively known of as neuronal ceroid lipofuscinoses (NCL). Batten disease was originally used to describe the juvenile form of NCL but is now more commonly used to refer to all forms of NCL.

The symptoms of Batten disease are caused by a build up of substances called lipopigments, composites of fat and protein, in the tissues of the body.

These lipopigment deposits accumulate in the eyes, brain, skin, muscles and other tissues, damaging neurons in the retina and central nervous system. Eventually, children develop mental impairment, seizures, and worsening sight and motor skills until they became blind or bedridden.

Batten disease epidemiology and inheritance

NCLs are rare disorders, affecting around 2 to 4 of every 100,000 live births in the United States. The disease has a higher prevalence in Finland, Sweden and other parts of northern Europe. Batten disease is inherited in an autosomal recessive fashion, meaning a child needs to inherit two defective genes (one from each parent) for the disorder, if they are to develop the disease.