Neuronal ceroid lipofuscinosis (NCL) type 11 (CLN11)

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

Neuronal ceroid lipofuscinosis (NCL) type 11 (CLN11). This is caused by mutations in the GRN gene on chromosome 17. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in the GRN gene on chromosome 17
  • The transmission is autosomal recessive
  • It causes adult onset NCL (ANCL)

Clinical features

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Investigations

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References

  1. Smith KR, Damiano J, Franceschetti S, et al. Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage. Am J Hum Genet 2012; 90:1102-1107.

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