This report describes general characteristics of the group of diseases classified as neuronal ceroid lipofuscinosis (CLN or NCL), often referred to as Batten disease. CLN is a genetically heterogeneous disorder, with multiple genes and mapped loci. A listing of CLN subtypes, as defined by OMIM, may be found in the table below, with links to more detailed reports for subtypes that have been investigated using fly models.
[updated Jun. 2017 by FlyBase; FBrf0222196]
Individuals with all forms NCL have shortened life expectancy, but it is highly variable, depending upon the form of the disease (from Medscape, http://emedicine.medscape.com/article/1178391-overview; 2016.01.05).
The term Batten disease may refer specifically to the juvenile-onset form, but is also used to refer to any NCL.
The neuronal ceroid lipofuscinoses (NCLs or CLNs) are a clinically heterogeneous group of neurodegenerative disorders; the general clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005; pubmed:15965709). [from MIM:256730; 2016.01.05]
Neuronal ceroid lipofuscinosisis is a genetically heterogeneous disorder. The childhood forms represent one of the largest groups of progressive neurodegenerative diseases in children. (Goebel, 1995; pubmed:8576551) [from MIM:256730; 2016.01.05]
The neuronal ceroid lipofuscinoses are characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally (Mole et al., 2005; pubmed:15965709). [from MIM:256730; 2016.01.05] Loss of neurons, predominantly in the cerebral and cerebellar cortices, is observed (Mole et al., 2005; pubmed:15965709). NCLs have been classified as lysosomal diseases because of the near-ubiquitous intracellular accumulation of lysosomal lipopigment residual bodies (Mole et al., 2005; pubmed:15965709).
