Neuronal ceroid lipofuscinosis (NCL) type 6 (CLN6)

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

Neuronal ceroid lipofuscinosis (NCL) type 6 (CLN6). This is caused by mutations in the CLN6 gene on chromosome 15. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in the CLN6 gene on chromosome 15
  • The transmission is autosomal recessive
  • It causes Costa Rican late infantile onset NCL (cLINCL)
  • Late infantile onset age is 18 months to 8 years
  • An adult onset form presents as Kufs disease type A

Clinical features of typical CLN6

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Clinical features of adult onset CLN6

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Investigations

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References

  1. Bozorg S, Ramirez-Montealegre D, Chung M, Pearce DA. Juvenile neuronal ceroid lipofuscinosis (JNCL) and the eye. Surv Ophthalmol 2009; 54:463-471. 
  2. Arsov T, Smith KR, Damiano J, et al. Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6. Am J Hum Genet 2011; 88:566-573.
  3. Smith KR, Dahl HH, Canafoglia L, et al. Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis. Hum Mol Genet 2013; 22:1417-1423. 
  4. van der Zee J, Mariën P, Crols R, et al. Mutated CTSF in adult-onset neuronal ceroid lipofuscinosis and FTD. Neurol Genet 2016; 2:e102.
  5. Cotman SL, Karaa A, Staropoli JF, Sims KB. Neuronal ceroid lipofuscinosis: impact of recent genetic advances and expansion of the clinicopathologic spectrum. Curr Neurol Neurosci Rep 2013; 13:366.

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