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.
|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
|CLN13||Adult (Kufs type B)||CTSF, cathepsin F, lysosomal enzyme|
|CLN14||Infantile Progressive myoclonic epilepsy, without NCL-type lysosomal storage||KCTD7|