Marta Figueiredo, PhD, science writer —

Naturally occurring canine models of several types of neuronal ceroid lipofuscinoses (NCLs), also known as Batten disease, may aid in the development of new effective therapies for these conditions, according to a review study. The study, “Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of…

Researchers have identified eight potential biomarkers of disease severity, progression and treatment response in children with late infantile Batten disease. Considering the nature of these biomarkers, the team suggested that these patients may have a disease-associated brain energetic deficit that could drive neurodegeneration. The study, “Untargeted…

CLN3, the protein lacking in the juvenile form of Batten disease (CLN3 disease), is involved in maintaining water balance, which is key for cell survival and growth, according to a recent study. Findings from the study also highlight a link between CLN3 and CLN2 — a protein that, when mutated, causes…

Caspase-1 — an enzyme involved in several cellular processes, including inflammatory responses — is a potential therapeutic target to revert some of the features of CLN3 disease, the juvenile form of Batten disease, according to a mouse study. The study, “Caspase 1 activity influences juvenile Batten disease (CLN3)…

Researchers have found a natural model of CLN7 disease, a rare form of Batten disease, in a type of monkey called a macaque, which may prove valuable in gaining insight into the disease, as well as testing therapeutic strategies, a study reports. The study, “Discovery…

Researchers have found common disease mechanisms between a type of Batten disease and a form of adult neurodegenerative disease. The study, “Individuals with progranulin haploinsufficiency exhibit features of neuronal ceroid lipofuscinosis,” was published in the journal Science Translational Medicine. Batten disease, or neuronal ceroid lipofuscinoses (NCLs), is the…

Researchers have developed a new newborn screening test that uses dried blood spots to more accurately diagnose late infantile Batten disease, along with six other lysosomal storage disorders. Findings were published in the study, “Multiplex Tandem Mass Spectrometry Enzymatic Activity Assay for Newborn Screening of the Mucopolysaccharidoses…

Researchers have identified five new mutations in the CLN8 gene — the genetic factor behind CLN8 disease, one of a group of conditions known as NCLs, collectively called Batten disease. The study, “CLN8 disease caused by large genomic deletions,” was published in the journal Molecular…

A genetically modified mouse with increased levels of a specific enzyme in the brain, along with a new genetic tool, may help researchers further their understanding of late infantile neuronal ceroid lipofuscinosis (CLN2) and aid in developing future therapies. The study, “Inducible transgenic expression of tripeptidyl peptidase 1…