Batten disease, a rare inherited disorder that disrupts brain development and function, has revealed critical insights regarding its progression based on sex and age. Researchers from the University of Rochester’s Del Monte Institute for Neuroscience have published findings demonstrating that male and female brains respond differently as the disease advances. This research, featured in the Journal of Neurodevelopmental Disorders, offers a new model that could significantly influence future treatment approaches.
Batten disease manifests primarily as CLN3, the most prevalent form of the condition. Symptoms typically emerge between the ages of four and seven, leading to profound changes in quality of life. Affected children may experience vision loss, cognitive difficulties, movement issues, seizures, and speech challenges. These symptoms complicate the study of the disease, particularly in understanding how it affects males and females differently.
Yanya Ding, Ph.D., an alumna of the Neuroscience Graduate program at the University of Rochester and the study’s first author, emphasized the difficulty in tracking disease progression due to early declines in vision and cognition. “Because vision and cognition decline early, it is hard for scientists to track how the disease progresses and develop reliable treatments using standard tests,” Ding stated. The study aims to address this gap by utilizing a novel approach to monitor brain function over time.
The researchers employed a noninvasive technique known as electroencephalography (EEG) alongside auditory tests to assess how brain activity in male and female mouse models of CLN3 responded to sound patterns. Their findings revealed that male mice exhibited early auditory problems that tended to improve with age, while female mice faced ongoing difficulties. This divergence suggests that both age and sex play critical roles in the progression of Batten disease.
Previous research led by John Foxe, Ph.D., principal investigator at the Fredrick J. and Marion A. Schindler Cognitive Neurophysiology Lab, established a biomarker in human CLN3 patients that informed this mouse study. Foxe’s work underscores the potential of EEG as a valuable measure for monitoring disease progression and evaluating new treatment options.
Kuan Hong Wang, Ph.D., professor of Neuroscience and co-senior author of the study, added, “These findings highlight the importance of tracking brain function over time and support the use of this EEG-based method as a valuable tool for monitoring disease progression and testing new treatments.” The research findings could pave the way for more personalized therapies and better timing for interventions, ultimately improving outcomes for patients.
The University of Rochester is recognized as an Intellectual and Developmental Research Center (IDDRC), focusing on neuromarker discovery in Batten disease. Several potential gene therapies targeting the condition are currently advancing through development stages. With a translational mouse model established, researchers can better assess the efficacy of these experimental treatments, providing a clearer understanding of their potential impact.
The study’s co-authors include Jingyu Feng, Viollandi Prifti, Grace Rico, Alexander Solorzano, Hayley Chang, and Edward Freedman, Ph.D. of the University of Rochester Medical Center. Their collective efforts contribute significantly to the ongoing fight against Batten disease and highlight the importance of understanding how gender and age influence its progression.
For further details, refer to the study: Yanya Ding et al, “Sex-specific and age-related progression of auditory neurophysiological deficits in the Cln3 mouse model of Batten disease,” Journal of Neurodevelopmental Disorders (2025). DOI: 10.1186/s11689-025-09652-2.
