Neuronal ceroid lipofuscinosis
What is it?
Neuronal ceroid lipofuscinosis (NCL) is a group of childhood neurodegenerative diseases that differ from other neurodegenerative diseases by the accumulation of autofluorescent material in the brain and other tissues. The main clinical manifestations are seizures, deterioration of psychomotor activity, blindness and premature death.
How is it diagnosed?
Several subgroups of NCL have been identified, which differ in the age of onset of symptoms and the appearance of accumulating NCL material under an electron microscope. Three main groups, infantile (INCL), classic late infantile (LINCL), and juvenile (JNCL, also described as Batten's disease), are caused by an autosomal recessive mutation in genes CLN1, CLN2, and CLN3, respectively. A small number of symptomatic onset NCLs in adults (tentatively designated as CLN4), late infant variant forms (CLN5, CLN6 and tentatively CLN7), and progressive myoclonic epilepsy (CLN8) have also been described as implicated in neuronal ceroid lipofuscinosis. The identification of mutations in genes encoding lysosomal proteins in various forms of NCL led to the recognition of ceroid lipofuscinosis as true lysosomal storage disorders.
How is it treated?
Diagnosis by clinical presentation, confirmation of the presence of autofluorescent material under an electron microscope and enzymatic tests. The diagnosis can be confirmed by molecular tests, with the exception of the CLN4 and CLN9 forms.
At the moment, there is no medical therapy, pharmacological interventions are symptomatic.
Where do we treat it?
Are you interested in receiving the treatment?