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Two young sisters who carry a unique combination of mutations in their CLN8 genes developed a mild, but atypical type of Batten disease, a case study reported. Both sisters had different mutations in each of their CLN8 genes — one from their mother and the other from their father,…

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,…

Activation of a type of channel called TPC2 may restore more normal lysosome function, offering a potential therapeutic approach for Batten disease and others marked by impairment of those cellular compartments, a study suggested. When a cellular model of juvenile Batten disease was treated with a compound designed…

CLN5 disease, a form of late infantile Batten disease, disrupts fatty molecule balance and autophagy (the waste disposal system of cells), and increases cellular susceptibility to a type of damage called oxidative stress, according to data from preclinical models of the disease. Also, many of the molecules whose levels…

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…

Nonprofits, scientists, governmental organizations, and the rare disease drug development industry have long cited 7,000 as the average number of rare diseases in the world. But a new analysis shows there are as many as 10,867 rare diseases globally. And that…