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Genetic basis and phenotypic correlations of the neuronal ceroid lipofusinoses

2013; Elsevier BV; Volume: 1832; Issue: 11 Linguagem: Inglês

10.1016/j.bbadis.2013.03.017

1879-260X

Varun Warrier, Mariana Vieira, Sara Mole,

Mitochondrial Function and Pathology

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.