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Gene Review

CLN4  -  ceroid-lipofuscinosis, neuronal 4 (Kufs...

Homo sapiens

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High impact information on CLN4

  • NCLs are caused by at least 8 mutant genes (CLN1-CLN8), though CLN4 and CLN7 have not yet been identified [1].
  • The genes for classic late-infantile neuronal ceroid-lipofuscinosis, CLN2, and for adult neuronal ceroid-lipofuscinosis, CLN4, have not been located, the former having been excluded from chromosomes 1 and 16 [2].
  • Two cases were of the infantile type (CLN1), one case of the juvenile (CLN3) type and one case of the adult (CLN4) type [3].

References

  1. The intracellular location and function of proteins of neuronal ceroid lipofuscinoses. Ezaki, J., Kominami, E. Brain Pathol. (2004) [Pubmed]
  2. The neuronal ceroid-lipofuscinoses. Goebel, H.H. J. Child Neurol. (1995) [Pubmed]
  3. Neuronal ceroid lipofuscinosis in the Czech Republic: analysis of 57 cases. Report of the 'Prague NCL group'. Elleder, M., Franc, J., Kraus, J., Nevsímalová, S., Sixtová, K., Zeman, J. Eur. J. Paediatr. Neurol. (1997) [Pubmed]
 
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