Neuronal ceroid lipofuscinosis (NCL) type 8 (CLN8)

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Neuronal ceroid lipofuscinosis (NCL) type 8 (CLN8). This is caused by mutations in the CLN8 gene on chromosome 8. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in the CLN8 gene on chromosome 8
  • It causes variant late infantile onset (vLINCL)
  • The transmission is autosomal recessive
  • Late infantile onset age is 5-10 years

Clinical features

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Magnetic resonance imaging (MRI) brain: features

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Visual evoked potentials

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References

  1. Beesley C, Guerreiro RJ, Bras JT, et al. CLN8 disease caused by large genomic deletions. Mol Genet Genomic Med 2016; 5:85-91. 
  2. Bozorg S, Ramirez-Montealegre D, Chung M, Pearce DA. Juvenile neuronal ceroid lipofuscinosis (JNCL) and the eye. Surv Ophthalmol 2009; 54:463-471.

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