Neuronal ceroid lipofuscinosis (NCL) type 11 (CLN11)

Evidence-based neurology checklist on neuronal ceroid lipofuscinosis (ncl) type 11 (cln11): 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 Investigations

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

Investigations

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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