Neuronal ceroid lipofuscinosis is a group of rare lysosomal storage disorders caused by the deficiency or dysfunction of certain proteins in the body. Due to this, the protein called ceroid lipofuscin will not break down properly which will lead to storage of the protein in the cells. The accumulation of ceroid lipofuscin mainly happens in the retina and the brain. Accumulation in the retina will lead to detoriating vision and blindness. Accumulation of the protein in the brain will lead to a decline of the cognitive and motor function. Patients with neuronal ceroid lipofuscinosis can suffer from behavorial problems, movement disorders, epilepsy and die prematurely.          

So far, 14 types of neuronale ceroid lipofusninosis have been discovered. In each type a different gene is affected. The classification of the different types has been done according to the affected gene (the CLN gene). All forms of NCL have similar progressive symptoms. However, each form has its own course. This is partly due to the fact that some forms of NCL can have its onset at different ages. There is the infantile form, the late-infantile form, the juvenile form and the adult form. 

The most common type of NCL is CLN3 also called Batten disease. 

Other types of NLC are: 

• CLN1 - Haltia-Santavouri disease - infantile form
• CLN2 - Jansky-Bielschowsky disease - late-infantile form
• CLN3 - Batten disease - juvenile form
• CLN4 - Kufs disease - adult form
• CLN5 - late-infantile form
• CLN6 - late-infantile form
• CLN7 - late-infantile form
• CLN8 - late-infantile form
• CLN9 - juvenile form
• CLN10 - infantile and late-infantile form
• CLN11 - adult form
• CLN12 - juvenile form
• CLN13 - adult form
• CLN14 - infantile form

Neuronal ceroid lipofuscinosis are very rare disorders. It is estimated that the Netherland has a total of 60 patients of all types of NCL. About 4 patients per year are diagnosed with NCL in the Netherlands. 

Neuronal ceroid lipofuscinosis is being caused by a genetic defect in the CLN gene. Because of this defect the protein ceroid lipofuscin is not being broken down properly which leads to a storage of the protein in the cells. The storage in the cells mainly happens in the retina and the brain.  

Neuronal ceroid lipofuscinosis is a progressive disease. Due to storage of the protein ceroid lipofuscin damage occurs in the neurons (nerve cells), mainly affecting the retina and the brain. Depending on which form the patient has, the following symptoms may occur:

• Cognitive decline
• Motor decline
• Epileptic seizures
• Blindness
• Premature death

When a doctor suspects NCL based on clinical findings, the diagnosis can be confirmed by genetic testing. 

Unfortnuately, there is no cure for NCL. Therefore, for most forms, treatment is mainly aimed at controlling the symptoms. E.g. medication for epilepsy. 

At this moment, CLN2 is the only form for which a treatment is availalbe. Available since 2017, the treatment is aimed at administering the missing enzyme tripeptidyl-peptidase-1 (TPP1) directly in the brain by infusion. Although the treatment will not cure the patient, the preliminary results show that it slows down, and in some patients stabilizes, progressive symptoms. 

Patients with NCL are seen in our center by the metabolic pediatrician and child neurologist. 

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