The group of diseases known as Batten disease (after the British Paediatrician who first described it in 1903) or the neuronal ceroid lipofuscinoses (NCLs) are rare, genetic, progressive neurodegenerative, metabolic diseases that occur in children and adults worldwide.

Symptoms include loss of vision, epilepsy and loss of abilities including walking, eating and talking. Our understanding of Batten disease is improving all the time and work to develop new therapies is progressing well.  However, at present there is no cure or treatment that makes a significant impact on the progressive decline in bodily functions and inevitable early death.

A number of different forms of Batten disease, including less common variants and a congenital form are known.  These share similar symptoms but progress at different rates and are all genetically different.  It is important to know which gene mutation causes the disease in each individual.  Nine genes are known to cause Batten disease to date.  The types of Batten disease are often classified by age of onset:

Infantile – onset between 6 months and 2 years.  Death can occur in mid-childhood.

Late Infantile and variant late infantile – onset between 2 and 4 years.  Death can occur between the ages of 5 and 15.

Juvenile – onset between 5 and 9 years.  Death can occur from the late teens to the mid 30's.

Adult – onset normally before the age of 40.  Shortened life expectancy.

Inheritance patterns
Autosomal recessive for all the childhood variants of NCL (neuronal ceroid lipofuscinoses), however it is thought that some of the rare adult forms (Kuf's disease) can be inherited in an autosomal dominant way.

Prenatal diagnosis
Prenatal diagnosis is available in the UK within the National Health Service for families in which the histology and genetics are known for an affected child. At present this covers types caused by mutations in the genes CLN1, CLN2, CLN3, CLN5, CLN6, CLN7, CLN8, CLN10.  Prenatal diagnosis is done using a chorionic villus sample which is split and sent for ultrastructural analysis, DNA mutation testing (all types) and enzyme analysis (CLN1, CLN2, CLN10/CTSD). 

Medical text written January 2008 by the Batten Disease Family Association. Approved January 2008 by Dr Ruth Williams., Consultant Paediatric Neurologist, Guy's Hospital, London, UK and Dr Sara Mole, Reader in Molecular Cell Biology, University College London, UK.

For an overview of what we know about causes, management and treatment of the three Classic types of Batten Disease, please download our

Infantile Batten Disease Information Leaflet, click here for download

Late Infantile Batten Disease Information Leaflet, click here for download

Juvenile Batten Disease Information Leaflet, click here for download

or email info@bdfa-uk.org.uk for a hard copy to be posted to you. 

For further support and information please contact 01603 760111 or e-mail: info@bdfa-uk.org.uk . We will do our very best to help you, to give you information and confidence to manage the future and provide quality of life for your child and your family.