Steve Bryson, PhD,  science writer—

Atypical neuronal ceroid lipofuscinosis type 2 (CLN2) — a type of Batten disease that occurs later in childhood — presented with seizures, language difficulties, and behavioral problems as the first symptoms in a group of patients in South America, a study reported. …

Amicus Therapeutics‘ investigational gene therapy AT-GTX-501 stabilized motor and language function in children with variant late infantile neuronal ceroid lipofuscinosis 6 disease — also known as CLN6 Batten disease — two years…

An examination of the spinal cords of mice that lack the PPT1 protein, the underlying cause of infantile Batten disease, revealed the loss of specific neurons, evidence of inflammation, and walking abnormalities that started early during spinal cord development, a study reports. …

Treating a juvenile Batten disease mouse model with antisense oligonucleotides to correct its underlying disease-causing mutation led to less waste buildup in the brain, improved motor skills, and longer survival, a study reports.  These results are a key…

The proteins CLN6 and CLN8 — which are deficient in people with two forms of Batten disease — were found to interact directly with each other, forming a functional complex in vivo, or in the body, a study discovered. …

Common, non-invasive imaging techniques and a walking test used to assess patients with Batten disease in the clinic helped scientists identify a new set of biomarkers in a mouse model that can track disease progression over time, a study reports.  These findings…

A previously unidentified variant of a gene associated with adult-onset Batten disease (ANCL) was found in an affected family after initial genetic tests failed, highlighting the difficulties in diagnosing this condition despite advances in DNA sequencing technology, a new study shows.  The…

Neurogene, which is developing therapies to treat people with Batten disease, has joined with other companies in supporting and expanding Behind the Seizure, a collaborative effort to provide free genetic testing to children in the U.S. and Canada with…