Neuronal ceroid lipofuscinosis (NCL) type 9 (CLN9)

Evidence-based neurology checklist on neuronal ceroid lipofuscinosis (ncl) type 9 (cln9): Genetics No genetic mutation has been identified for CLN9 The transmission is autosomal recessive It causes juvenile onset NCL (JNCL) The pathology is linked to impaired sphingolipid metabolism Clinical…

Genetics

  • No genetic mutation has been identified for CLN9
  • The transmission is autosomal recessive
  • It causes juvenile onset NCL (JNCL)
  • The pathology is linked to impaired sphingolipid metabolism

Clinical features

Differential diagnosis

Electroencephalogram (EEG)

References

  1. Schulz A, Dhar S, Rylova S, et al. Impaired cell adhesion and apoptosis in a novel CLN9 Batten disease variant. Ann Neurol 2004; 56:342-350.

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