Neuronal ceroid lipofuscinosis (NCL) type 10 (CLN10)

Evidence-based neurology checklist on neuronal ceroid lipofuscinosis (ncl) type 10 (cln10): Genetics This is caused by mutations in the Cathepsin D (CTSD) gene on chromosome 11 The transmission is autosomal recessive It causes congenital onset NCL (CNCL) but it may present in adulthood…

Genetics

  • This is caused by mutations in the Cathepsin D (CTSD) gene on chromosome 11
  • The transmission is autosomal recessive
  • It causes congenital onset NCL (CNCL) but it may present in adulthood

Developmental features

Neurological features

Other features

Magnetic resonance imaging (MRI) brain: features

References

  1. Steinfeld R, Reinhardt K, Schreiber K, et al. Cathepsin D deficiency is associated with a human neurodegenerative disorder. Am J Hum Genet 2006; 78:988-98.
  2. Hersheson J, Burke D, Clayton R, et al. Cathepsin D deficiency causes juvenile-onset ataxia and distinctive muscle pathology. Neurology 2014; 83:1873-1875.

Related checklists

Loading...