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The neuronal ceroid lipofuscinosis (NCL, or Batten disease) belongs to inherited neurodegenerative disorders with similar clinical manifestations like epileptic seizures, progressive psychomotor deterioration, and visual disturbance. Moreover, cell-accumulated autofluorescent deposits can be detected with proper tests. Altogether NCLs are most common neurodegenerative disease in children.

The first descriptions can be traced to a report from 1826 presenting the strange cases of illness in four siblings near Röraas (Norway). Until Zeman and Dyken in 1969 published their conclusions, and the NCL concept emerged, many of the early NCL’s patients have been collectively referred to as amaurotic family idiocy (later named Tay–Sachs disease). Another milestone was made in the second half of the 90s with establishing the genetic background for NCL1-NCL3.

The NCLs are inherited in an autosomal recessive pattern (except for the NCL4 dominant pattern), and the first signs often can be found in childhood. Currently, more than 500 pathological variants in 13 genes (CLN1-CLN14, CLN9was not yet identified) have been reported and linked to the NCLs. The NCLs are identified worldwide, although their prevalence may differ from 1:1,000,000 in certain regions to 1:100,000 in Scandinavia.

CLN8mutations are described as a cause of Northern Epilepsy (NE, OMIM:610003) and late-infantile NCL variant (vLINCL, OMIM:600143). Northern Epilepsy (also known as progressive epilepsy with mental retardation - EPMR) can manifest with epilepsy, progressive mental deterioration, and cerebellar atrophy. This syndrome often occurs in northern Finland's population due to the founder effect, hence the name. The second entity - vLINCL, has a similar presentation, but, myoclonus or retinal degeneration may be present. However, a recent report suggests that the CLN8-phenotype is broader than EPMR and vLINCL. Therefore, it has been proposed to include congenital NCL8 and atypical late infantile NCL in the clinical spectrum.