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 language | English (US) |
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Pages (from-to) | 7-10 |
Number of pages | 4 |
Journal | European Journal of Paediatric Neurology |
Volume | 5 |
Issue number | SUPPL. A |
DOIs | |
State | Published - 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