Cerebellar Abiotrophy in Lagotto Romagnolo Dogs
​What is CA?
Cerebellar Abiotrophy (CA) is a progressive neurological condition observed in several dog breeds, including the Lagotto Romagnolo. This condition occurs when nerve cells in the cerebellum, the part of the brain responsible for balance and movement, begin to degenerate. Dogs with CA often exhibit symptoms such as clumsiness, tremors, difficulty walking, and coordination issues.​​​​
Tuni's Story: A Premier Truffle Dog
Petunia, affectionately known as "Tuni," was a promising addition to our Lagotto Romagnolo breeding program. Her DNA and OFA (Orthopedic Foundation for Animals) health tests were normal, and she showed potential as a foundation for a strong and healthy bloodline.
However, subtle signs of unsteadiness raised concerns. Tuni began showing moments of imbalance and coordination issues that were inconsistent with her health background. After consulting with veterinary neurologists, her symptoms were found to be consistent with Cerebellar Abiotrophy. While a definitive diagnosis requires a necropsy post-mortem, the clinical evidence was compelling.
A Commitment to Health and Responsible Breeding
To prioritize the health and well-being of future generations, we made the difficult decision to spay Tuni and remove her from our breeding program. This decision was guided by our responsibility as breeders to prevent the possibility of passing on CA to future litters.
Tuni now enjoys a fulfilling life as a cherished family companion. Her story underscores the importance of vigilance, thorough health evaluations, and the ethical responsibility of breeders to prioritize the health of their dogs above all else.
By sharing Tuni's journey, we hope to raise awareness about Cerebellar Abiotrophy and inspire others to uphold the highest standards of care and responsibility in breeding practices.
Cerebellar Abiotrophy in
Lagotto Romagnolo
By Liz Williams & Katherine Hollinger, D.V.M., M.P.H.
Progressive Cerebellar Abiotrophy (CA)
has been identified in several species, including in various dog breeds. Several different forms of the condition have been identified in certain dog breeds. This disorder results from a loss of neurons in the cerebellum's cortex. It is a degenerative disease that causes affected dogs to have difficulty keeping balance and controlling their movements, which affects the dog's and owner's quality of life, requiring increasing levels of care and management. Dogs with CA have a much shorter life expectancy, with euthanasia is a compassionate choice made by most families.
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Why are we seeing it now?
This is not a new condition in the Lagotto, with cases reported and research ongoing at least since 2007. It has been an underreported condition that has delayed research progress in identifying genetic determinants. There can be many reasons for the lack of reported cases and participation in the ongoing research. There is a lack of education & recognition of CA on the part of breeders and enthusiasts worldwide. Pet owners have no awareness that their new puppy isn't simply clumsy, and very few within the veterinary profession know the breed or conditions common to the breed. There is also an emotional toll on the families who find themselves with an affected puppy and on the part of breeders who have unintentionally sent an unhealthy puppy to a home.
Today, the Lagotto Romagnolo breed has identified genetic health conditions for which commercial tests are available to breeders to make informed choices when pairing dogs to breed. There was a time when tests for Benign Familial Juvenile Epilepsy and Lysosomal Storage Disease were not available. Once commercial genetic tests became available and through education in the breeder community, the prevalence of these conditions decreased dramatically while retaining the excellent qualities of the Lagotto, vitality, and longevity. CA genetic determinants are currently invisible; breeding a pair that produces an affected puppy may be inevitable without more scientific research. CA is the neurological disease that breeds mentors to be focused upon so that a commercial test can be made available to everyone, and producing a CA-affected puppy is no longer a concern.
What we know:
The visible signs of the condition are often noticed in juveniles between 12 – 16 weeks of age, several weeks after a puppy has been placed in a new home. This age is when families see the puppy exhibit a 'clumsy' gait, tremors, wobbling, head bobbing, involuntary horizontal eye movement, and other body movements that present differently than a typical puppy. Though not as frequent, some dogs seem to have an adult onset, beginning within the first year or later. A complete veterinary examination will help rule out other suspected causes of the symptoms, and a referral to a neurologist may be recommended. Once other causes are ruled out and CA is suspected, it is up to the owner's discretion in consultation with their veterinarian. Still, it may not be necessary to complete a costly MRI. If the owner is considering euthanasia, the definitive diagnosis needed for an affected dog's inclusion as a CA case in research is best obtained by histopathology on post-mortem examination. While an MRI can show changes in the cerebellum (i.e., smaller size, wider sulci), it does not change the outcome for the dog or the people or provide the definitive diagnosis needed for CA research. At this stage, if CA is suspected, only a couple of options are available for the puppy. Since this is a degenerative disease with no cure, those options are to euthanize the puppy or to raise & manage the puppy for as long as some quality of life and care are possible. Neither is a simple choice, and both are difficult to make.
What about research?
In past years, there has been ongoing research at the University of Bern, Switzerland, and the University of Helsinki, Finland. Currently, the lead of the study on identifying genetic determinants for CA in Lagotti is Dr. Tosso Leeb in Bern with the partnership of Dr. Hannas Lohi's group in Finland. This partnership brings together two accomplished researchers and expert canine geneticists with long-term interest and success in teasing out disease-causing variants in the genetics of all breeds, including Lagotti, in 2015, having identified the LSD genes (ATG4D variant) currently available in commercial tests. These successful researchers have state-of-the-art laboratories, staff, and knowledgeable graduate students to support this work. [Supporting this strong collaboration toward one goal for the breed worldwide focuses resources and our ability to educate & promote participation.]
Clinical presentation and age at onset are crude tools but hint that there are likely multiple forms of CA in Lagotti and multiple genetic determinants responsible for this condition in the population of Lagotti worldwide. This requires collecting sample sets from different 'family lines' of dogs that have produced CA-affected puppies, which are crucial to the study. It is not as simple as collecting one or two samples and finding the answers across the breed. Along with blood samples of CA-affected dogs, a sample set includes samples from the affected's parents and several full siblings, including littermates. Having a complete sample set provides the researcher more power in their analysis of the genomic data. To distinguish the minor differences between a single variant allele of a carrier and a clear or an affected, there must be more than one sample of each variety.
If, as is suspected, there is more than one type of CA in Lagotti, then that creates a need for samples within affected family lines of dogs that have produced affected puppies, which is very important to the study. It is not as simple as collecting one or two samples and assuming that is sufficient for finding the answers. Lagotto Breed Organizations and Lagotto Health Groups should become familiar with CA, educate breeders on recognizing it, and prepare puppy buyers to recognize signs. Also, in coordinated outreach, these groups should provide support when a CA case is identified. Support may include sharing information on best management practices, giving the puppy family emotional support, and helping the breeder locate the puppy's parents and full siblings for sample collections.
Building a non-judgmental culture of open discussion on the breed's concerns will help encourage breeders and puppy families to come forward to participate. Through outreach and education, people become more aware and can be prepared to support each other. It is essential to understand that this is not isolated to any particular lines of dogs but likely came down through the small genetic pool of Lagotti used to preserve the breed in the 1970s and 80s. With the worldwide popularity and growth in the population of Lagotti over the past 5 years, the likelihood of producing affected puppies may increase until a test is commercially available.
Frequently Asked Questions –
• What can we do to avoid producing affected puppies?
This condition affects our breed, not just a particular pedigree of dogs. Until a genetic test is available, there is no way to identify dogs that may be carriers other than when they produce a litter with affected puppies. Until testing is available, some strategies may include voiding close linebreeding when selecting pairings.
Build good relationships with trusted breed mentors and breeders with a long history of learning potential concerns when making breeding selections.
• What do I do if I have a litter with an affected puppy(ies)?
It can happen to anyone until a test is available to identify carriers.
Be prepared to be available for the puppy family (if the puppy is placed) and consider the options that will be best for them, the puppy, and you.
Reach out to your breed health group, the Lagotto Foundation, or directly to Dr. Leeb at the University of Bern to learn how you can participate.
You will decide whether to breed the pair that produced an affected puppy, but repeating the same breeding is strongly discouraged unless solicited for research.
• What should I do if I notice the symptoms in my puppy or adult dog?
If there are any concerns, you must seek veterinary advice to have a complete physical to rule out other potential causes. Reach out to your breeder to alert them to your concerns and inform them about any findings from the veterinarian. If it is suspected to be CA, there will be some personal choices to make that you and your breeder should discuss. Participating in the study would be a valuable contribution to the breed's future. Participation does not automatically mean an affected dog must be euthanized; blood samples are adequate for a presumptive case for the research.
If it would be helpful to your decision process, we could connect you with others who have had the experience for you to ask questions.
• What happens when I participate in the study with an affected or non-affected dog?
The blood samples, pedigrees, and other information sent to the study are confidential. A definitive CA case should have a post-mortem examination with histopathology of the brain tissue. A complete sample set includes the suspect/definitive CA case (usually a blood sample is acquired first, upon death, the report of brain histopathology, and blood samples from the parents and full siblings of the CA-affected dog. When the genetic determinant is identified, you will be notified by the research institution of your dog's genetic profile for that particular gene before a test is publicly available. If you are a breeder, this could be very helpful in making future decisions in your breeding program.
More information is available at:
https://lagottofoundation.org/diseases/research/
Sample Submission Information:
Cerebellar Abiotrophy in Lagotto Romagnolo Dogs
The University of Bern Contact
Prof. Dr. Tosso Leeb tosso.leeb@unibe.ch
Institute of Genetics, University of Bern