Neuronal ceroid lipofuscinoses (NCL)?
Neuronal ceroid lipofuscinoses (NCL) are a group of autosomal recessively inherited lysosomal storage disorders characterized by excessive neuronal accumulations of the lipid pigments, ceroid, and lipofuscin.
They present as classic gray matter diseases with intractable seizures, progressive dementia, and blindness.
Together they represent the most commonly diagnosed pediatric neurodegenerative disorder.
The genetic basis of these diseases is increasingly understood with 13 genes presently implicated.
