Neuronal ceroid lipofuscinosis (NCL) type 5 (CLN5)

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Neuronal ceroid lipofuscinosis (NCL) type 5 (CLN5). This is caused by mutations in the CLN5 gene on chromosome 13. Fully referenced neurology checklist.

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

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Magnetic resonance imaging (MRI) brain: features

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Neurophysiological tests

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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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