title: Considerations for the treatment of infantile neuronal ceroid lipofuscinosis (infantile Batten disease).
abstract: The infantile form of neuronal ceroid lipofuscinosis (ie, infantile Batten disease) is the most rapidly progressing type and is caused by an inherited deficiency in the lysosomal enzyme palmitoyl protein thioesterase 1. The absence of enzyme activity leads to progressive accumulation of autofluorescent material in many cell types, particularly neurons of the central nervous system. Clinical signs of infantile neuronal ceroid lipofuscinosis appear between 6 months and 1 year of age and include vision loss, cognitive decline, motor deficits, seizures, and premature death, typically by 3 to 5 years of age. There is currently no effective treatment. However, preclinical experiments in the murine model of infantile neuronal ceroid lipofuscinosis have shown that gene therapy, enzyme replacement, stem cell transplantation, and small-molecule drugs, alone or in combination, can significantly slow disease progression. A more thorough understanding of the underlying pathogenesis of infantile neuronal ceroid lipofuscinosis will identify new therapeutic targets.
authors.affiliation: Departments of Internal Medicine and Genetics, Washington University School of Medicine, St. Louis, MO, USA.
authors.forename: Mark S
authors.initials: MS
authors.lastname: Sands
mesh_terms: D056947:Enzyme Replacement Therapy; D015316:Genetic Therapy; D006801:Humans; D007223:Infant; D009472:Neuronal Ceroid-Lipofuscinoses / Q000188:drug therapy / Q000628:therapy*; D033581:Stem Cell Transplantation
keywords: Batten disease; enzyme replacement therapy; gene therapy; infantile Batten disease; lysosomal storage disease; stem cells