Marta Figueiredo, PhD,  science writer—

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…

Two dozen new mutations in the CLN6 gene were identified in nearly 100 people, mostly from the Middle East and North Africa, with CLN6 Batten disease, a study shows. These findings “confirm the genetic and ethnic [variability] of CLN6 disease,” and are expected to “raise awareness for CLN6 disease and…

The number of activated microglia — the brain’s resident immune cells — are significantly increased by the time seizures start to occur in a mouse model of infantile Batten disease, also known as CLN1 disease, a study shows. Suppressing P2X7R, a receptor protein mainly found at the surface of…

The layers of the retina — the part of the eye that’s damaged in Batten disease — are differently affected and show a distinct progression between naturally occurring sheep models of CLN5 and CLN6 disease, a study shows. Notably, all retinal layers were affected in sheep with CLN6 disease.

During the COVID-19 pandemic in England, treatment with Brineura (cerliponase alfa) was considered “essential” for children with neuronal ceroid lipofuscinosis type 2 (CLN2) — also called late infantile Batten disease. That resulted in no patients missing any doses of the therapy, which is designed to slow the progressive…

Mutations in the CLN6 gene — which have been associated with different forms of Batten disease — may lead to the development of an atypical form of juvenile Batten that does not cause vision loss, according to a study reporting the cases of three patients from two Greek-Cypriot…

An international team of experts has developed a set of consensus-based, family-informed recommendations for the diagnosis and best care management of neuronal ceroid lipofuscinosis type 1 (CLN1) disease. The guidelines were outlined in a report, “Management of CLN1 Disease: International Clinical Consensus,” published in the journal…

A screening of U.S.-approved therapies revealed that tamoxifen, an oral cancer therapy, is able to effectively reduce the accumulation of a fatty molecule called globotriaosylceramide, or Gb3, in cellular models of two forms of Batten disease. It worked without compromising cell survival, a study showed. That study found that…

A gene therapy designed to deliver a working version of the CLN8 gene — the one mutated in people with CLN8, a form of late-infantile Batten disease — prolonged the survival, reduced disease-associated brain features, and partially corrected motor problems in a mouse model. The findings, likely representing one of…

Two years of treatment with Brineura (cerliponase alfa) safely and effectively delayed the onset of late-infantile Batten disease in a 23-month-old boy who had not exhibited symptoms when he started treatment, a case study shows. The same treatment slowed disease progression in his older sister, who received the therapy…