New research on English Cocker Spaniel Puppies sheds light on Pelizaeus–Merzbacher disease (PMD)
Published: 24 February 2026
The findings have been published in the Proceedings of the National Academy of Sciences (PNAS) and provide an important insight into the rare inherited neurological disorder affecting myelin formation in children.
Researchers at the Small Animal Hospital, in collaboration with partner universities and research centres, have identified a naturally occurring genetic variant in English Cocker Spaniel puppies that provides an important new insight into Pelizaeus–Merzbacher disease (PMD), a rare inherited neurological disorder affecting myelin formation in children. The findings have been published in the Proceedings of the National Academy of Sciences (PNAS).
In the study, led by Professor Rodrigo Gutierrez Quintana, cases were identified through routine veterinary clinical care, and the condition was spontaneous and not experimentally induced. All investigations were conducted as part of standard diagnostic procedures, with animal welfare as the highest priority.
The discovery improves understanding of how PLP1 gene variants disrupt oligodendrocyte development and myelin formation. Because the condition closely mirrors severe forms of PMD in humans, it provides valuable insight into disease mechanisms and may help guide future research into diagnosis and potential therapies.
These findings highlight the vital role of collaborative veterinary and biomedical research in advancing knowledge of naturally occurring neurological diseases that benefit both animal and human health.
Read the full paper -
https://www.pnas.org/doi/10.1073/pnas.2523008123
First published: 24 February 2026
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