Also known as: Jansky-Bielschowsky disease; Kufs disease; Neuronal Ceroid Lipofuscinosis; Santavuori disease; Santavuori-Haltia disease; Vogt-Spielmeyer disease
The group of diseases known as Batten disease or the neuronal ceroid lipofuscinoses (NCLs) are rare genetic disorders of the nervous system. They are named after the British paediatrician who described the symptoms early last century. Sadly these are serious conditions that shorten the lives of those affected. There are many different forms of Batten Disease dependent partly on which gene is causing the disease in any individual.
Medical text written January 2008, Batten Disease Family Association. Approved January 2008 by Dr Ruth Williams and Sara Mole, Reader in Molecular Cell Biology, University College London, UK. Last updated March 2018 by Dr Ruth Williams, Consultant Paediatric Neurologist, Evelina Children’s Hospital, London, UK.
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Symptoms of most kinds of Batten Disease include loss of vision, epilepsy (see entry Epilepsy syndromes in Childhood) and progressive loss of abilities, including walking, speech and eating normally. A number of different genetic types are known. In the UK, CLN2 (late infantile) and CLN3 (juvenile) are the most common:
- CLN1 disease, infantile: onset usually between six months and two years with developmental delay and seizures. There are some cases where the onset is much later in childhood or adulthood.
- CLN2 disease, late infantile: onset between two and four years with seizures and slowing down of developmental progress. Atypical cases are recognised with later onset of learning difficulties and movement problems and slower disease progression (some of these have been diagnosed as spinocerebellar ataxia).
- Variant late infantile forms (CLN5, 6, 7, 8 diseases and others): onset between two and six years, often with challenging behaviour, slowed developmental progress and then seizures
- CLN3 disease, juvenile: onset of deteriorating vision between five and nine years. Children remain healthy for several years but then develop epilepsy and slowly become more dependent on others . Sadly, death can occur at any time from the late teens to the mid-thirties
- Early adult dementia
A number of different genetic mistakes (mutations) cause the different forms of Batten disease. The different genes are called CLN1, CLN2, CLN3, CLN4, CLN5, CLN6, CLN7, CLN8, CLN10, CLN11, CLN12, CLN13 and CLN14. In CLN1, CLN2 and CLN10 diseases the genetic changes result in a shortage of crucial enzymes in the parts of the cells called lysosomes.
The first symptoms of late infantile and variant late infantile types of Batten disease (CLN2, CLN5, CLN6, CLN7, CLN8 and others) are often slowing of developmental progress and epilepsy in young children. Children are seen by paediatricians and often referred to paediatric neurologists who arrange for lots of tests to be done including brain scans, electroencephalograms (EEGs; ‘brain wave’ tests) and blood and urine tests to look for many different causes. The Batten disease tests are usually done at the same time as many other tests. An enzyme or genetic test confirms the diagnosis of one of the types of Batten disease.
CLN3 disease (also known as juvenile Batten disease) may be first suspected during an eye examination. An optician or ophthalmologist may detect abnormalities in the back of the eye. Referral will be made to a neurology specialist for further testing and diagnosis. Diagnosis is usually made following blood tests, including genetic tests.
Management of all types of Batten disease will be directed towards controlling symptoms and providing support to those affected and their families. Currently, there is no known cure for these conditions, although research is underway and new treatments are becoming available in some countries. Seizures are treated with anticonvulsant medications. Physical therapy and occupational therapy may be of help in maintaining movement and muscle function. Appropriate education, short-breaks, care and family support are essential. Further information about clinical trials and new or experimental treatments is available on the Batten Disease Family Association website.
Autosomal recessive for all the childhood variants, though it is thought that some of the rare adult forms can be inherited in an autosomal dominant way. Affected families should be referred to a genetics centre for information and support.
Prenatal diagnosis using chorionic villus sampling is available in the UK if the genetic mutation in a family is already known.
Batten Disease Family Association
The Association is a Registered Charity in England and Wales No. 1084908. It offers informed guidance and support to everyone who is affected by Batten disease, and the professionals who work with them.
Group details last reviewed December 2020.