Marisa Wexler, MS, senior science writer —

An experimental enzyme replacement therapy (ERT) — one injected directly into the brain — was found to lessen motor dysfunction and nerve cell death in mouse and sheep models of infantile Batten disease, a new study reports. Collaborations Pharmaceuticals, known as CPI, recently received nearly $3 million…

Mutations in the gene KCTD7, known to cause a rare form of Batten disease, lead to the excessive accumulation in cells of a protein called CLN5, which may be an important target for treating the disorder, researchers said. Defects in CLN5 are known to cause other types of Batten disease,…

Drinking acidified water prevented motor impairment and decreased the toxic accumulation of molecular debris in brain cells in a mouse model of CLN1 disease, also called infantile Batten disease, a recent study reports. “In this study, we demonstrated that acidified drinking water had beneficial effects in … a mouse…

Children with late infantile Batten disease on approved enzyme replacement therapy show signs of age-related degeneration in the light-sensing part of the eyes, a new study shows. The study, “Ongoing retinal degeneration despite intraventricular enzyme replacement therapy with cerliponase alfa in late-infantile neuronal ceroid lipofuscinosis type 2…

Six months of treatment with cannabidiol (CBD) reduced brain inflammation in a mouse model of infantile Batten disease, but did not affect the frequency of seizures or the survival of nerve cells, a new study reports. Given the severe symptoms that typically characterize this subtype of Batten disease,…

People with juvenile Batten disease may be at increased risk of developing an abnormally high body temperature when taking certain medications commonly prescribed to manage mental health issues, according to a new report from Sweden. “Our study points to a vulnerability to drug-induced hyperthermia in patients with [juvenile Batten…

Batten disease-causing mutations may lead to dysfunction of synapses, the structures that nerve cells use to connect with each other. That’s according to data reported in “Transmembrane Batten Disease Proteins Interact With a Shared Network of Vesicle Sorting Proteins, Impacting Their Synaptic Enrichment,” a new study…

For children with Batten disease, some behavioral and emotional challenges are a response to difficulties brought on by the inherited disorder, a new study highlights. While the researchers emphasized that all children with Batten react to the disease in their own unique way, they offered some strategies that may…

An inflammatory environment driven by brain cells called microglia may act to prevent the brain from repairing itself in Batten disease, according to a new study done in sheep chimeras. The study, “Aggregation chimeras provide evidence of in vivo intercellular correction in ovine CLN6 neuronal ceroid…

A 13-year-old girl experiencing unexplained seizures and no other apparent symptoms was ultimately diagnosed with juvenile Batten disease, according to a recent report. This “is probably the first case report of [juvenile Batten disease] with only seizures as presentation,” the researchers wrote. Titled “Batten’s Disease: A…