Neuronal ceroid lipofuscinosis (NCL) type 12 (CLN12)

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

Neuronal ceroid lipofuscinosis (NCL) type 12 (CLN12). This is caused by mutations in the ATP13A2 gene on chromosome 1.

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

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Blood film

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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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