Batten disease: Neuronal Ceroid Lipofuscinosis Type 1 (infantile); Type 2 (late infantile); Type 3 (Juvenile); NCL; Santavuori disease; Santavuori-Haltia disease (Infantile); Jansky-Bielschowsky disease (Late Infantile Type); Variant late infantile type; Vogt-Spielmeyer disease (Juvenile type); Kufs disease (Adult type)

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 six months and two years. Death can occur in mid-childhood.

Late Infantile - onset between two and four years. Death can occur between the ages of five and fifteen.

Juvenile - onset between five and nine years. Death can occur at any time from the late teens to the mid-thirties.

Adult - onset normally before the age of forty. 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, Batten Disease Family Association. Approved January 2008 by Dr Ruth Williams, Consultant Paediatric Neurologist, Guy's Hospital, London, UK and Sara Mole, Reader in Molecular Cell Biology, University College London, UK.

Further Online Resources
Medical texts in The Contact a Family Directory are designed to give a short, clear description of specific conditions and rare disorders. More extensive information on this condition can be found on a range of reliable, validated web sites and links to them are included in the CD-ROM version of this Directory. Further information on these resources can be found in our Medical Information on the Internet article.

BATTEN DISEASE FAMILY ASSOCIATION

Batten Disease Family Association
c/o Heather House
Heather Drive
Tadley RG26 4QR
Tel: 0115 965 4815
e-mail: BDFA.info@binternet.com
Web: http://www.bdfa-uk.org.uk

THE BDFA (National Registered Charity No. 1084908) was formed in 1998 and its main aim is that no family will go through the devastating journey of Batten Disease alone. They are a supportive, informative, national networking organisation for the families, carers and professionals giving care to children and adults with Batten Disease and for promoting awareness of, and research into, the disease.

Group details last updated October 2007.