Back to Search
Start Over
A CLN5mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset
- Source :
- Neurology (Ovid); February 2005, Vol. 64 Issue: 4 p740-742, 3p
- Publication Year :
- 2005
-
Abstract
- Three related patients from Colombia presented with a juvenile-onset neuronal ceroid lipofuscinosis. Electron microscopy of one case showed condensed fingerprint profiles, and genetic analyses identified a novel missense mutation in CLN5. The authors demonstrate the existence of pathogenic CLN5mutations outside northern Europe and that mutations in this gene can lead to an atypical late-onset neuronal ceroid lipofuscinosis disease, in addition to the late infantile form first described in Finland.
Details
- Language :
- English
- ISSN :
- 00283878 and 1526632X
- Volume :
- 64
- Issue :
- 4
- Database :
- Supplemental Index
- Journal :
- Neurology (Ovid)
- Publication Type :
- Periodical
- Accession number :
- ejs49026395
- Full Text :
- https://doi.org/10.1212/01.WNL.0000151974.44980.F1