New mutations in the neuronal ceroid lipofuscinosis genes

S. E. Mole, N. A. Zhong, A. Sarpong, W. P. Logan, S. Hofmann, W. Yi, P. F. Franken, O. P. Van Diggelen, M. H. Breuning, D. Moroziewicz, W. Ju, T. Salonen, V. Holmberg, I. Järvelä, P. E M Taschner

Research output: Contribution to journalReview articlepeer-review

23 Scopus citations

Abstract

Thirty-eight mutations and seven polymorphisms have recently been reported in the genes underlying the neuronal ceroid lipofuscinoses (NCLs) including 11 new mutations described here. A total of 114 mutations and 28 polymorphisms have now been described in the five human genes identified which cause NCL. Thirty-eight mutations are recorded for CLN1/PPT; 40 for CLN2/TTP-1, 31 for CLN3, four for CLN5, one for CLN8. Two mutations have been described in animal genes (cln8/mnd, CTSD). All mutations in NCL genes are contained in the NCL Mutation Database (http://www.ucl.ac.uk/NCL).

Original languageEnglish (US)
Pages (from-to)7-10
Number of pages4
JournalEuropean Journal of Paediatric Neurology
Volume5
Issue numberSUPPL. A
DOIs
StatePublished - 2001

Keywords

  • Batten disease
  • CLN1
  • CLN2
  • CLN3
  • CLN5
  • CLN8
  • NCL
  • Neuronal ceroid lipofuscinosis
  • PPT1
  • TPP-1

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

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