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Commonly referred to as Batten disease, the Neuronal Ceroid Lipofuscinoses (NCLs) are several different genetic life-limiting neurodegenerative diseases that share similar features. Although the disease was initially recognised in 1903 by Dr Frederik Batten, it wasn’t until 1995 that the first genes causing Batten disease were identified. Since then over 400 mutations in 13 different genes have been described that cause the various forms of Batten Disease. We estimate that approximately 11 – 17 children, young people and adults are diagnosed with a form of the disease each year; meaning there are between 100 – 150 affected individuals currently living with Batten disease in the UK.

Although the different forms of NCL are sometimes described using the age of the child at the onset of the disease, they are actually classified according to the gene identified as the cause e.g. CLN 1 (gene) disease, infantile (age of onset); CLN2 disease, late-infantile; and CLN3 disease, juvenile.

There are various differences in terms of the progression of each form; however a number of shared symptoms will inevitably occur in an individual’s journey with the disease. These include an increasing visual impairment resulting in blindness; complex epilepsy with severe seizures that are difficult to control; jerks of limbs; difficulties sleeping; the decline of speech, language and swallowing skills; and a deterioration of fine and gross motor skills causing the loss of mobility. Ultimately the child or young person will become totally dependent on families and carers for all of their needs.  Other commonly seen symptoms are hallucinations, memory loss and challenging behaviours. Death is inevitable and, depending on the specific diagnosis, may occur anywhere between early childhood and young adulthood.

It is not possible to truly comprehend the full impact of Batten disease on any child or young person and their family. Their journey from before diagnosis to death brings a multitude of ever-changing needs as the disease progresses, which are extremely complex to manage.  This group of diseases are so rare that most health and social care professionals will have little, if any; experience of what is required to support a family in all aspects of their lives.

The following table is a summary of the recognised types of CLN as at January 2021.

Gene Clinical type Protein
CLN1 (PPT1) Infantile, late infantile, juvenile and adult PPT1, lysosomal enzyme
CLN2 (TPP1) Late infantile Juvenile, protracted, Spincocerebellar ataxia,
recessive type 7  (SCAR7)
TPP1, lysosomal enzyme
CLN3 Juvenile, Protracted Non-syndromic retinal degeneration Autophagic vacuolar myopathy CLN3, endolysosomal membrane protein
CLN4 (DNAJC5)   Adult (dominant, Parry disease) CSPα, Cysteine string protein
CLN5 Late infantile, Juvenile, protracted, adult Macular dystrophy CLN5, soluble lysosomal protein
CLN6 Late infantile, protracted Adult (Kufs type A), Juvenile cerebellar ataxia CLN6, transmembrane protein of ER
CLN7 (MFSD8) Late infantile, Juvenile, protracted, Adult macular dystrophy MFSD8, lysosome membrane protein
CLN8 Late infantile Protracted, Northern epilepsy CLN8, transmembrane protein of ER
CLN10 Congenital, late infantile, juvenile, adult CTSD, cathepsin D, lysosomal enzyme
CLN11 Teenage, Adult (frontotemporal lobar dementia when heterozygous) GRN
CLN12 Juvenile, pre-teen Kufor-Rakeb syndrome (with Parkinsonism);
Spastic paraplegia 78, autosomal recessive
ATP13A2
CLN13 Adult (Kufs type B) CTSF, cathepsin F, lysosomal enzyme
CLN14 Infantile Progressive myoclonic epilepsy, without NCL-type lysosomal storage KCTD7

 

The above table was provided by Dr Sara Mole and more information can be found at the NCL Resource which she maintains at University College London.

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