shutterstock_1701701503.jpg

CLN2 

Disease Overview:

ceroid lipofuscinoses (NCLs) are a family of rapidly progressing childhoodneurodegenerative disorders. NCLs (also known as Batten disease) are the leading cause of dementia in children and adolescents and characterised by neuronal and retinal accumulation of autofluorescent lipopigments (ceroid lipofuscin).

Classic and atypical presentations with varying age of onset, symptoms and disease course based on type and phenotype NCLs are historically recognised by a triad of debilitating symptoms which are Seizures/epilepsy,Dementia and Vision loss.