Neuronal ceroid lipofuscinosis (NCL) type 6 (CLN6)

Evidence-based neurology checklist on neuronal ceroid lipofuscinosis (ncl) type 6 (cln6): 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…

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

Clinical features of adult onset CLN6

Investigations

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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