Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are fatal
neurodegenerative disorders that are thought to exist on a clinical and pathological …

The main aim of this review is to summarize the current state-of-art in the field of childhood
Neuronal Ceroid Lipofuscinosis (NCL), a group of rare neurodegenerative disorders. These …

The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative
disorders that affect children and adults. They share some similar clinical features and the …

Rare monogenic disorders such as lysosomal diseases have been at the forefront in the
development of novel treatments where therapeutic options are either limited or unavailable …

The blood‐brain barrier (BBB) poses daunting challenges in treating diseases associated
with the central nervous system (CNS). Recently, the traditional notion of the absence of the …

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

Lysosomes play a central role in cellular homeostasis and alterations in this compartment
associate with many diseases. The most studied example is that of lysosomal storage …

The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative
lysosomal storage disorders (LSDs), traditionally grouped together based on shared clinical …

Homozygous mutations in the progranulin gene (GRN) are associated with neuronal ceroid
lipofuscinosis 11 (CLN11), a rare lysosomal-storage disorder characterized by cerebellar …

Children with neurodegenerative disease often have debilitating gastrointestinal symptoms.
We hypothesized that this may be due at least in part to underappreciated degeneration of …