What is Batten disease?

Batten disease is a rare, fatal, inherited disorder of the nervous system that usually begins in childhood. The first symptom is usually progressive vision loss in previously healthy children followed by personality changes, behavioral problems and slow learning. Seizures commonly appear within 2-4 years of vision loss. However, seizures and psychosis can appear at any time during the course of disease. Progressive loss of motor functions (movement and speech) start with clumsiness, stumbling and Parkinson-like symptoms; eventually, those affected become wheelchair-bound, are bedridden, and die prematurely. 12,18

Juvenile Batten disease is one of a group of disorders known as neuronal ceroid lipofuscinoses (NCLs). Over 400 different errors (mutations) in 14 segments of DNA (genes) have been attributed to various forms of Batten, which differ from one another primarily by when symptoms first appear. 8,18,19 These disorders all affect the nervous system with increasing seizures, movement disorders, altered thought processes, and cognitive decline. Childhood NCLs also include vision loss but adult onset Batten typically do not. 5,7,10,14,20,25 Although Batten disease was originally used to describe only the juvenile form, the term “Batten disease” is widely used in the US and UK to refer to all forms of NCL.

Juvenile Batten disease

The first noticeable sign of juvenile Batten disease is often loss of vision, which begins between the ages of 5 and 10 years in previously healthy children and tends to worsen rapidly. 6 Other early signs are more subtle and include personality changes, behavioral problems, and slowed learning. 1,16 Recurrent seizures typically begin around age 9 and motor problems appear in the early to late teenage years. 2 At first, children may stumble or shuffle, followed by Parkinson-like symptoms followed by a complete decline in mobility. 3,24 Disrupted sleep and psychiatric conditions may appear at any time during the course of the disease. 15,17 Some affected teenagers and young adults have cardiac problems that require pacemakers. 13,21 Eventually, young adults become blind, bedridden, and physically and mentally incapacitated, requiring 24-hour care until premature death in their early twenties to thirties. 1,4,18

For more on understanding the CLN3 gene, whose mutations are responsible for juvenile Batten disease, click here

For more on diagnosing juvenile Batten disease click here

How common is juvenile Batten disease?

While a worldwide incidence rate is difficult to confirm, individual studies in various countries suggest rates range from 0.5 – 8 per 100,000 live births, with an average of 1.2 per 100,000. 22,23 Evidence suggests that juvenile Batten disease is the most common form of pediatric neurodegenerative disease. 9 Approximately 440,000 people in the United States [do not have any symptoms but] carry disease-causing mutations in their juvenile Batten disease (CLN3) gene. 9 According to the National Human Genome Research Institute, Juvenile Batten disease is one of 6,800 rare diseases affecting 30 million or almost 1 out of every 10 Americans.11

References »