Abstract
The neuronal ceroid lipofuscinoses (NCL) are a group of genetic lysosomal storage
diseases characterized by dementia, epilepsy, motor deterioration and mostly also
visual loss through retinal degeneration. As a group, they represent one of the most
frequent etiologies of dementia in young persons. The present classification of the
NCL disorders is based on the different genes involved and on the age at clinical
onset, which can be anytime between the infantile and young adult age. We describe
typical clinical pictures that may be caused by NCL types in the different age groups
and an economic strategy for their diagnosis. While experimental therapies aiming
to stop disease progression are being developed, palliative therapies may be disease-specific
and can bring significant relief. This applies particularly to the therapy of the
frequently drug-resistant epilepsy in NCL.
Keywords
Degenerative brain disease - genetics - dementia - epilepsy - retinopathy
