Neuronal ceroid lipofuscinosis (NCL) type 13 (CLN13)

Evidence-based neurology checklist on neuronal ceroid lipofuscinosis (ncl) type 13 (cln13): Genetics This is caused by mutations in the Cathepsin F (CTSF) gene on chromosome 11 The transmission is autosomal recessive It causes adult onset NCL (ANCL): it presents as Kufs type B Adult onset age is…

Genetics

  • This is caused by mutations in the Cathepsin F (CTSF) gene on chromosome 11
  • The transmission is autosomal recessive
  • It causes adult onset NCL (ANCL): it presents as Kufs type B
  • Adult onset age is 12-60 years

Neurological features

Magnetic resonance imaging (MRI) brain: features

References

  1. Smith KR, Dahl HH, Canafoglia L, et al. Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis. Hum Mol Genet 2013; 22:1417-1423. 
  2. Di Fabio R, Colonnese C, Santorelli FM, Pestillo L, Pierelli F. Brain imaging in Kufs disease type B: case reports. BMC Neurol 2015; 15:102. 

Related checklists

Loading...