Bioinformatic perspectives in the neuronal ceroid lipofuscinoses
Language English Country Netherlands Media print-electronic
Document type Journal Article, Research Support, Non-U.S. Gov't, Review
PubMed
23274885
DOI
10.1016/j.bbadis.2012.12.010
PII: S0925-4439(12)00301-8
Knihovny.cz E-resources
- Keywords
- Bioinformatics, Linkage analysis, Neuronal ceroid lipofuscinosis, Next generation sequencing, Topology,
- MeSH
- Phenotype MeSH
- Genetic Predisposition to Disease * MeSH
- Humans MeSH
- Membrane Proteins genetics MeSH
- Mutation genetics MeSH
- Neuronal Ceroid-Lipofuscinoses genetics pathology therapy MeSH
- Computational Biology * MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
- Review MeSH
- Names of Substances
- Membrane Proteins MeSH
The neuronal ceroid lipofuscinoses (NCLs) are a group of rare genetic diseases characterised clinically by the progressive deterioration of mental, motor and visual functions and histopathologically by the intracellular accumulation of autofluorescent lipopigment - ceroid - in affected tissues. The NCLs are clinically and genetically heterogeneous and more than 14 genetically distinct NCL subtypes have been described to date (CLN1-CLN14) (Haltia and Goebel, 2012 [1]). In this review we will chronologically summarise work which has led over the years to identification of NCL genes, and outline the potential of novel genomic techniques and related bioinformatic approaches for further genetic dissection and diagnosis of NCLs. This article is part of a Special Issue entitled: The Neuronal Ceroid Lipofuscinoses or Batten Disease.
References provided by Crossref.org
Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease)
