Types of Batten Disease
Batten disease, or Neuronal Ceroid Lipofuscinosis (NCL), has 14 known forms. Progressions of the different forms of the disease vary (the phenotype) based on the type of genetic mutation (the genotype) and other factors. Each form is classified by the gene that causes the disorder. Each gene is called CLN (ceroid lipofuscinosis, neuronal) and given a different number designation as its subtype. The disorders generally include a combination of vision loss, epilepsy, and dementia. For more information about genetic science and a glossary of terms the US National Human Genome Research Institute provides a useful . We have collaborated with our scientific colleagues in the field of Batten disease to provide clinical summaries for as many forms of the disease as possible. We seek out and publish updated information on each type because we serve families impacted by all forms of the disease.
|Adult onset NCLs|
A table outlining the gene symbol and protein associated with specific disease types was adapted by the BDSRA from Dr. Sara Mole and Dr. Ruth Williams, NCL2012 Abstract Book (2012) and is available for download. Summary of New Classification Nomenclature of the NCLs (Download PDF)
Diseases listed in the gene table are all autosomal recessive unless noted. It is possible that further cases of later onset e.g. CLN2 disease, adult, or those with atypical progression, e.g. CLN3 disease, juvenile, will yet be recognized.
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