BACKGROUND AND PURPOSE: Experimental therapies for ceroid lipofuscinosis, neuronal,
2 (CLN2), a genetic disorder of childhood associated with progressive brain atrophy, are …

Purpose Grey matter (GM) atrophy due to neuronal loss is a striking feature of patients with
CLN3 disease. A precise and quantitative description of disease progression is needed in …

BACKGROUND AND PURPOSE: Late infantile neuronal ceroid lipofuscinosis (CLN2
disease) is a uniformly fatal lysosomal storage disease resulting from mutations in the CLN2 …

Abstract Juvenile neuronal ceroid lipofuscinosis (JNCL, CLN3) is an inherited lysosomal
disease. We used longitudinal MRI, for the first time, to evaluate the rate of brain volume …

BACKGROUND AND PURPOSE: Infantile neuronal ceroid lipofuscinosis is a devastating
neurodegenerative storage disease caused by palmitoyl-protein thioesterase 1 deficiency …

Juvenile neuronal ceroid lipofuscinosis (CLN3) is characterized by progressive cerebral
atrophy. The purpose of this study was to re‐evaluate the three‐dimensional magnetic …

BACKGROUND AND PURPOSE: Neuronal ceroid lipofuscinoses are a group of
neurodegenerative disorders characterized by the accumulation of autofluorescent …

Studies on magnetic resonance imaging (MRI) observations in neuronal ceroid
lipofuscinosis (NCL) are few and far between. We evaluated the MRI characteristics of …

BACKGROUND AND PURPOSE: Juvenile neuronal ceroid lipofuscinosis is a progressive
neurodegenerative lysosomal storage disease of childhood. It manifests with loss of vision …

Neuronal ceroid lipofuscinosis is a group of neurodegenerative disorders characterized by
accumulation of lipofuscin and/or ceroid within the tissues of the body. These entities are …