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Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant (EPMR)

Genes

  • Ceroid-lipofuscinosis, neuronal 8 (CLN8)

Summary

Progressive epilepsy with mental retardation (EPMR) also known as Ceroid lipofuscinosis, neuronal, 8,Northern epilepsy variant or Northern epilepsy, is caused by a homozygous Finnish founder mutation (p.Arg24Gly) in the CLN8 gene. Other mutations in CLN8 gene cause more severe CLN8 disease phenotype, late infantile variant (vLINCL). Northern epilepsy is a very rare inherited form of epilepsy which has so far been detected only in a restricted district (Kainuu) of Finland. The clinical disease is characterized by normal development until the age of 5 to 10 years when the first generalized tonic-clonic seizures occur. The seizures become more frequent with advancing age until puberty but then gradually disappear at adulthood. Deterioration of mental development begins 2 to 5 years after the onset of seizures and gradually leads to moderate mental retardation by adult age. Clinical diagnosis of Northern epilepsy can be confirmed by gene test showing the founder mutation of CLN8 gene. Cytosomal accumulation of autofluorescent material in several tissues of Northern epilepsy patientshave been shown. . The basic mechanism by which the putative transmembrane protein encoded by the CLN8 gene at chromosome 8pter-p22 leads to epilepsy and mental retardation is still unknown.

Links

UMLS Concept names

  • C1864923 CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT
  • C1864923 EPMR
  • C1864923 EPILEPSY, PROGRESSIVE, WITH MENTAL RETARDATION
  • C1864923 NORTHERN EPILEPSY

Selected publications

  • Ranta S, Zhang Y, Ross B, Lonka L, Takkunen E, Messer A, Sharp J, Wheeler R, Kusumi K, Mole S, Liu W, Soares MB, Bonaldo MF, Hirvasniemi A, de la Chapelle A, Gilliam TC, Lehesjoki AE. The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8. Nat Genet. 1999 Oct;23(2):233-6. (Pubmed)
  • Kousi M, Lehesjoki AE, Mole SE. Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. Hum Mutat. 2012 Jan;33(1):42-63. Review. (Pubmed)