A recent study has unveiled significant insights into the progression of Batten disease, a rare inherited disorder affecting brain development and function. Research conducted by scientists at the University of Rochester highlights how sex and age influence the progression of the most common type of this condition, known as CLN3 disease.
Symptoms of CLN3 typically manifest between the ages of four and seven, leading to severe challenges such as vision loss, cognitive difficulties, movement impairments, seizures, and speech problems. Understanding the disease’s progression has proven challenging, particularly in differentiating how it affects males and females. Notably, findings indicate that female patients often experience a later onset of symptoms compared to their male counterparts, yet tend to face a more rapid decline in their condition.
Key Findings from the Research
Researchers, led by Yanya Ding, Ph.D., an alumna of the Neuroscience Graduate program, utilized electroencephalography (EEG)—a noninvasive method to measure brain electrical activity—to assess auditory responses in male and female mouse models of CLN3. The results were striking: male mice exhibited early auditory issues that improved with age, while female mice demonstrated persistent auditory difficulties. This suggests that both sex and age play critical roles in how Batten disease progresses.
Dr. John Foxe, principal investigator of the Fredrick J. and Marion A. Schindler Cognitive Neurophysiology Lab at the University of Rochester, previously identified a measurable brain process in human CLN3 patients that was integral to this study. He remarked on the importance of tracking brain function over time, emphasizing the potential of EEG as a valuable tool for monitoring disease progression and evaluating new treatments.
Implications for Future Treatments
The findings could significantly influence the development of personalized therapies aimed at improving outcomes for individuals with Batten disease. Kuan Hong Wang, Ph.D., a professor of Neuroscience and co-senior author of the study, stressed that understanding the differing progression in males and females could guide more effective interventions.
The University of Rochester is recognized as an Intellectual and Developmental Research Center (IDDRC), currently focusing on neuromarker discovery related to Batten disease. Several gene therapies for this condition are in advanced stages of development, and the mouse model established in this study will enable researchers to evaluate the effectiveness of these experimental treatments more thoroughly.
The research was published in the Journal of Neurodevelopmental Disorders on March 15, 2025. Co-authors of the study also include Jingyu Feng, Viollandi Prifti, Grace Rico, Alexander Solorzano, Hayley Chang, and Edward Freedman, Ph.D., all affiliated with the University of Rochester Medical Center.
This groundbreaking study not only provides a clearer understanding of Batten disease but also opens new avenues for therapeutic approaches, potentially transforming the lives of those affected by this challenging condition.
