Neuronal ceroid lipofuscinoses (NCLs; Batten disease) are neurodegenerative lysosomal
storage diseases predominantly affecting children. Single administration of brain-directed …

Many neuropathic diseases cause early, irreversible neurologic deterioration, which
warrants therapeutic intervention during the first months of life. In the case of …

Abstract GM1 gangliosidosis (GM1) is an autosomal recessive lysosomal storage disease
where GLB1 gene mutations result in a reduction or absence of lysosomal acid β …

GM2 gangliosidoses, including Tay–Sachs disease and Sandhoff disease, are lysosomal
storage disorders caused by deficiencies in β-N-acetylhexosaminidase (Hex). Patients are …

Mucopolysaccharidosis type II (MPSII) is an X-linked lysosomal storage disease
characterized by severe neurologic and somatic disease caused by deficiency of iduronate …

Sanfilippo syndrome or mucopolysaccharidosis III is a lysosomal storage disorder caused by
mutations in genes responsible for the degradation of heparan sulfate, a glycosaminoglycan …

Mucopolysaccharide diseases are a group of paediatric inherited lysosomal storage
diseases that are caused by enzyme deficiencies, leading to a build-up of …

Introduction: Gene therapies can be envisioned for many disorders where conventional
therapies fall short. Lysosomal Storage Disorders (LSDs) are inherited, mostly monogenic …

Niemann–Pick type C disease (NP-C) is a fatal neurodegenerative lysosomal storage
disorder. It is caused in 95% of cases by a mutation in the NPC1 gene that encodes NPC1 …

Delivery of adeno-associated viral vectors (AAVs) to cerebrospinal fluid (CSF) has emerged
as a promising approach to achieve widespread transduction of the central nervous system …