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Batten disease

Also known as: Jansky-Bielschowsky disease, Kufs disease, Neuronal Ceroid Lipofuscinosis, Santavuori disease, Santavuori-Haltia disease, Vogt-Spielmeyer disease

Background

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 first described it in 1903. Sadly these are serious conditions that shorten the lifespan of those affected. There are several different forms of the condition according to the gene involved and the age that the condition becomes apparent.

Credits

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 May 2016 by Dr Ruth Williams, Consultant Paediatric Neurologist, Evelina Children's Hospital, London, UK.

Although great care has been taken in the compilation and preparation of all entries to ensure accuracy, we cannot accept responsibility for any errors or omissions. Any medical information is provided is for education/information purposes and is not designed to replace medical advice by a qualified medical professional.

Listen to more about this condition

This podcast is an honest account of a Mum's experience of having a child with Late Infantile Batten disease. Click here to listen

The views expressed in this podcast are for information purposes only. The material is in no way intended to replace professional medical care or attention by a qualified practitioner. Condition symptoms may vary in type or severity amongst individuals. This podcast is to demonstrate the personal views and experience of this family only. For approved medical information about this condition see the Contact a family website or contact your doctor.

What are the symptoms?

Symptoms include loss of vision, epilepsy (see entry Epilepsy syndromes in Childhood) and progressive loss of abilities, including walking, eating and talking. Sadly, to date there is no cure for any type of Batten disease. 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
  • CLN2 disease, late infantile: onset between two and four years with seizures and slowing down of developmental progress
  • variant late infantile forms (CLN5, 6, 7, 8 diseases): 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 sadly, death can occur at any time from the late teens to the mid-thirties
  • CLN4 disease (and others) adult: onset normally before the age of 40 years. Shortened life expectancy.

What are the causes?

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.

 

How is it diagnosed?

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 paediatricans 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.

 

How is it treated?

Management of Batten disease will be directed towards controlling symptoms and providing support to those affected and their families. Currently, there is no cure for these conditions, although research is underway. 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.

 

Inheritance patterns and prenatal diagnosis

Inheritance patterns
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
Prenatal diagnosis using chorionic villus sampling is available in the UK if the genetic mutation in a family is already known.

 

Is there support?

Batten Disease Family Association

Helpline: 0800 046 9832
Email: support@bdfa-uk.org.uk
www.bdfa-uk.org.uk

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 updated May 2016.

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