Juvenile NCL

Juvenile NCL (JNCL) is usually caused by mutations in a gene called CLN3.  The exact function of this gene in health and disease is still unknown.

Age at onset and first symptoms

Symptoms usually begin at early school age.

1. Eyesight: The leading symptom is isolated onset of visual failure due to retinal degeneration.
2. Loss of memory, awareness and altered ability to think and understand becomes evident several years after the onset of visual problems.
3. Speech. Speech gradually becomes strange and understandable only to the family.
4. Epilepsy. The severity of the epilepsy is quite variable with most young people suffering a first seizure between the ages of 5 and 18 years, at an average of 11 years of age.
5. Motor disorders. By their mid-teens, children may develop signs of Parkinsonism. They show a characteristic standing posture with bent knees and some degree of stiffness.
6. Psychological, psychiatric and behavioural problems. Sometime after the onset of visual loss, psychiatric disturbances of various types may occur. 
7. Sleep disturbance and unrest.

Diagnosis

Diagnostic investigations usually include neurophysiological tests, a brain scan (MRI) and blood tests. A skin biopsy may also be needed.

Treatment

Therapy for young people with JNCL is essentially supportive. Medical management involves a number of aspects:

1. Vision aids in the early stages
2. Seizure control
3. Psychological, psychiatric and behavioural problems
4. Motor problems - Physiotherapy, wheelchairs, hoists and other equipment
5. Swallowing and Nutrition.
6. Management of continence

The BDFA produce a more detailed leaflet about JNCL which can be downloaded.  If you would like a copy posted to you, please contact us.

The idea of talking to children about the effects of Batten Disease can feel overwhelming and distressing with concerns about how children might cope with the information and what it might mean for them to know.  With SeeAbility and Guy's and St Thomas' NHS Foundation Trust the BDFA have produced a leaflet to help support families and carers in these conversations with children and young people.

Juvenile Batten Disease "What should you tell the children?"