title: Genetic basis and phenotypic correlations of the neuronal ceroid lipofusinoses.
abstract: The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorders that mainly affect children and are grouped together by similar clinical features and the accumulation of autofluorescent storage material. More than a dozen genes containing nearly 400 mutations underlying human NCLs have been identified. Most of the mutations in these genes are associated with a typical disease phenotype, but some result in variable disease onset, severity and progression. There are still disease subgroups with unknown molecular genetic backgrounds. This article is part of a Special Issue entitled: The Neuronal Ceroid Lipofuscinoses or Batten Disease.
authors.affiliation: Division of Biosciences, University College London, Gower Street, London WC1E 6BT, UK.
authors.forename: Varun
authors.initials: V
authors.lastname: Warrier
authors.forename: Mariana
authors.initials: M
authors.lastname: Vieira
authors.forename: Sara E
authors.initials: SE
authors.lastname: Mole
mesh_terms: D020022:Genetic Predisposition to Disease; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D009472:Neuronal Ceroid-Lipofuscinoses / Q000235:genetics* / Q000473:pathology*; D010641:Phenotype
chemical_list: D008565:Membrane Proteins
keywords: Batten; CLN; EPMR; NCL; Neuronal ceroid lipofuscinosis; progressive epilepsy with mental retardation