The neuronal ceroid lipofuscinoses (NCLs) are clinically and genetically heterogeneous
neurodegenerative disorders. Most are autosomal recessively inherited. Clinical features …

The neuronal ceroid lipofuscinoses (NCLs) are a group of severe neurodegenerative
diseases with onset usually in childhood and characterised by the intracellular accumulation …

Background Recombinant human tripeptidyl peptidase 1 (cerliponase alfa) is an enzyme-
replacement therapy that has been developed to treat neuronal ceroid lipofuscinosis type 2 …

Late infantile neuronal ceroid lipofuscinosis (LINCL) is an autosomal recessive,
neurodegenerative lysosomal storage disease affecting the CNS and is fatal by age 8 to 12 …

The neuronal ceroid-lipofuscinoses (NCLs) collectively constitute the most common group of
neurodegenerative diseases in childhood and usually show an autosomal recessive mode …

Background Late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease,
characterised by rapid psychomotor decline and epilepsy, is caused by deficiency of the …

The progressive myoclonic epilepsies (PMEs) are a group of symptomatic generalised
epilepsies caused by rare disorders, most of which have a genetic component, a debilitating …

The neuronal ceroid lipofuscinoses (NCL) are neurodegenerative conditions that associate
cognitive decline, progressive cerebellar atrophy, retinopathy, and myoclonic epilepsy. NCL …

CLN2 disease (neuronal ceroid lipofuscinosis type 2) is a rare, autosomal recessive,
pediatric-onset, rapidly progressive neurodegenerative lysosomal storage disorder caused …

Late infantile Batten disease (CLN2 disease) is an autosomal recessive, neurodegenerative
lysosomal storage disease caused by mutations in the CLN2 gene encoding tripeptidyl …