Neuronal ceroid lipofuscinosis (NCL) type 5 (CLN5)

Evidence-based neurology checklist on neuronal ceroid lipofuscinosis (ncl) type 5 (cln5): Genetics This is caused by mutations in the CLN5 gene on chromosome 13 The transmission is autosomal dominant It causes the Finnish variant late onset NCL (cfinLINCL) It may also present as juvenile and adult…

Genetics

  • This is caused by mutations in the CLN5 gene on chromosome 13
  • The transmission is autosomal dominant
  • It causes the Finnish variant late onset NCL (cfinLINCL)
  • It may also present as juvenile and adult onset NCL

Clinical features

Magnetic resonance imaging (MRI) brain: features

Neurophysiological tests

References

  1. Simonati A, Williams RE, Nardocci N, et al. Phenotype and natural history of variant late infantile ceroid-lipofuscinosis 5. Dev Med Child Neurol 2017; 59:815-821.  
  2. Savukoski M, Klockars T, Holmberg V, Santavuori P, Lander ES, Peltonen L. CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis. Nat Genet 1998; 19:286-288.
  3. Xin W, Mullen TE, Kiely R, et al. CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL. Neurology 2010; 74:565-571.

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