Neuronal ceroid lipofuscinosis (NCL) type 12 (CLN12)

Evidence-based neurology checklist on neuronal ceroid lipofuscinosis (ncl) type 12 (cln12): Genetics This is caused by mutations in the ATP13A2 gene on chromosome 1 The transmission is autosomal recessive It causes adult onset NCL (ANCL) The gene is also associated with Kufor Rakeb syndrome (KRS,…

Genetics

  • This is caused by mutations in the ATP13A2 gene on chromosome 1
  • The transmission is autosomal recessive
  • It causes adult onset NCL (ANCL)
  • The gene is also associated with Kufor Rakeb syndrome (KRS, PARK9)

Clinical features

Blood film

References

  1. Bras J, Verloes A, Schneider SA, Mole SE, Guerreiro RJ. Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis. Hum Mol Genet 2012; 21:2646-2650.

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