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I am absolutely in favor of an open data base for Cerebellar Abiotrophy (CA) and an open health registry for the Scottish Terrier. I implore Scottie owners and breeders to encourage the STCA to act as soon as possible on the open data base for CA.
CA has had a significant and ever lasting effect on my life. I watched my Scottie, who was the love of my life, slowly and insidiously lose the ability to stand on his own or even take one single step without falling to the ground. It was a long journey and one I will never, never forget. Throughout this journey, Murphy, a hero in my eyes, remained a happy, cheerful, and sweet, sweet boy who looked forward to the simplest things in life. He adored his treats, feeding time, and daily walks. More than anything, though, he loved to be loved and this was enough to keep him happy and give him something to look forward to each and every day of his life. I wish I could have given him more, but with no treatment available for CA, I gave all I could.
I'd like to tell you a little bit about Murphy. At first he only tripped occasionally and banged his chin, which was sometimes difficult to watch if his chin happened to hit cement! I'll never get out of my mind how he would react after this happened. He would hold very still, slowly lift his chin, clench his jaws tightly, and shiver. It was clearly obvious, even when he didn't bleed, that he was experiencing pain, and sadly, he didn't even know why this was happening. It was heartbreaking to witness, to say the least, but this was just the beginning of the very long journey Murphy had to face.
Next came the falls. He would be happily running along in the yard, chasing after my other Scotties at full speed, not a care in the world, oblivious to danger and suddenly when he attempted to make a slight turn, he would tumble to the ground, rolling over and over again until he came to a stop. He would lay there a moment, grass and twigs entwined in his beard, dazed and confused, with a curious look on his face. Slowly, he'd get back up, shake himself off and continue on his way. Each time this happened, he was all right physically, but it was becoming clear that he knew his body was refusing to cooperate and he was as mystified about this as I was.
As time went by, I became very concerned. Murphy began to hold his back legs further and further apart to aid in balance. Eventually he had to creep up stairs, using his chin as a "fifth foot" to stabilize his body when attempting to climb. When he tried to go down stairs, forget it. Since Scotties with CA have nothing wrong with their mind, Murphy would often run full blast out the door, after all the other Scotties, who incidentally, flew down the steps as if they weren't even there, and suddenly trip, his beautiful little body bouncing and banging on every step until he landed in a heap at the bottom.
Soon, of course, steps were off limits. Murphy had to be carried up and down all steps for the rest of his life.
In the house, he was able to maneuver well, as long as he remained on carpeting. However, if I wasn't watching him closely or if I turned my back without thinking and he decided to follow me into the kitchen, as soon as he hit the linoleum floor he would slip and slide as if on ice, especially if he was excited. His chin would hit the floor with a resounding thud, or his head would smack into one doorway, startling him so much that he would rapidly turn his head to avoid the pain and smack his head again into the opposite door jamb.
I would run to him, hold him close and tell him over and over again how sorry I was. I used to worry that Murphy might come to think it was I who was causing him to hit his head all the time ... how could he understand that it wasn't? How could he know that his own body was slowly losing the ability to regulate and control the smooth and even movements we all take for granted.
Eventually, he would overshoot all of his intended goals or he would land short of them. When he tried to eat, his nose would bounce and bob all around the bowl, making it very difficult to get a hold of the food. When he drank, his nose would miss the bowl or go in too deep, causing him to inhale water. He would snort and snuff and try desperately to get the water out of his nose. This was extremely upsetting for him.
Soon, of course, he required assistance to eat and drink. Murphy had to be supported and held "still," while eating and drinking for the rest of his life.
The time came when Murphy was falling more often than staying on his feet. He would take three steps and fall, struggle to get up, take two more steps and fall again. I could no longer stand to see him fight so hard to walk, so next came the harness. Initially, it helped a great deal but as time went on, he required more and more support to keep his balance. His vestibular system was involved so he had a lot of trouble with balance (this is an issue for any Scottie with CA, but Murphy's symptoms were more severe than most).
I decided to try a wheelchair for dogs to see if that would offer more support, but it didn't. In a wheelchair, dogs’ legs still have to move normally, but Murphy walked with all four legs spread wide apart. He couldn't and would never again be able to get his legs underneath his body to move in a normal manner. I even tried another wheelchair, made with additional thought for an ataxic dog, with input from a physical therapist, but that one failed to work as well. Eventually, I stumbled on a harness made by surgi-sox, which gave Murphy the support he needed and it worked well for the rest of his life; however, the strain on my arm to support his weight and keep him from falling actually caused a tear in my bicep muscle.
Still, I would do it all again in a heartbeat if I had to. I loved Murphy more than anything, despite all of his problems, but I will tell you this ... Murphy did not have the life I would have chosen for him. I wanted him to run and play like a normal dog, to enjoy pouncing on the snow shovel in the winter, and on rakes in the fall, fighting with them and biting them, which he loved to do when he was younger. Gee, I would have loved to see something as simple as him walking to the door on his own if a visitor came to see us. That wasn't to be for Murphy, but there is no reason on this earth to make other Scotties come into this life, and force them to struggle like Murphy did. Not when there is help available now.
I place blame on no one for the disorder Murphy had -- what we don't know, we cannot address, however, now we DO know about CA in the Scottish Terrier and there is no excuse whatsoever for anyone to ignore this disease any longer. Nor can more excuses be given, that fail to address the fact that breeders of these wonderful dogs have been given, in essence, a gift. Dr. Bell is willing to work with anyone to control this disease through pedigree analysis and he only requires an open data base for CA to make this work. It is the obligation of the Scottish Terrier Club of America to name affected dogs openly so he can do his job.
Help is available now to prevent more Scotties from being born with CA, and reduce the incidence of the mutated gene that is already widespread in the breed and can show up anywhere. If CA is ignored until a time when a genetic test exists, can anyone say with certainty that there will even be a Scottie free of the defective gene? If that happens, then what -- where do we go from there?
Not every Scottie with CA will get as bad as Murphy, and that is an absolute fact, however, we cannot know which dog will have mild to moderate symptoms and which dog will not. I suggest you ask any owner of a CA affected dog how they feel about watching their Scottie struggle every day, and how they feel about the limitations placed on these dogs due to this disease. It breaks the heart of any owner to watch the dog they love struggle with CA, no matter how mild or moderate the symptoms may be. Especially when that dog is a Scottie.
Murphy, a beautiful, healthy 12-week-old Scottie pup, came to me in 1994. He was typically full of energy and lightheartedness. He played hard and acted as any other puppy would. Nothing unusual was noticed concerning his movements, but in time I would learn that Murphy's future would be anything but normal. The burden he now carries is continual and without end. I need to tell his story because other Scotties are at risk, and even though nothing can help Murphy, maybe bringing his problem in the open will one day help others avoid the disease he is afflicted with. Also, finding a diagnosis for Murphy was a long and difficult process; others shouldn't have to wait the six years I did to finally have an answer."
Scottie Scamper, September 2000, author Debbie Smith
Murphy has cerebellar abiotrophy, and Debbie Smith, Harborcreek, PA, opened his story in the Canadian Scottish Terrier Club quarterly with the above paragraph. Debbie had tried to find out what was wrong with Murphy since he was seven months old. "Luxating patellas," the first veterinarian told her. Patellar (knee) surgery at two and a half years didn't make Murphy normal. In fact, his movement became increasingly uncoordinated. Later, veterinarians couldn't agree whether Murphy had a neurological problem or a neuromuscular disorder. When he was six, veterinarians finally pronounced Murphy to have some sort of progressive neurologic disease, but visits to assorted veterinarians had not narrowed the diagnostic possibilities.
All these years Murphy's condition had continued to worsen. Debbie's family carried Murphy up and down steps. Outside they supported him by a harness because he was very unsteady on his feet. Murphy would fall often and bang his chin. Eating and drinking were difficult because of his head bobbing and swaying. Today Murphy requires constant help, even to eat and drink. Otherwise, he topples over.
Debbie and husband Bill loved Murphy and tended to his needs, but they did not learn what caused his problem until recently. She had suspected for quite some time that Murphy had cerebellar abiotrophy (CA) as described in Gordon Setters, but couldn't get her veterinarian to agree because she could find nothing published on CA in Scotties. Debbie read an article in CSTC's The Scamper that put her on the track to answering her suspicions. Editor Leona Carter had reprinted "Health Search, Health Share" from The Bagpiper (V99:#2). The section about cerebellar abiotrophy caught Debbie's eye. It told of geneticist Dr. Jerold Bell's work on CA in the Old English Sheepdog. The article also mentioned statistics from the 1995 STCA Health Survey that show ataxia (a physical finding of CA) has a "guesstimated" carrier incidence of 13% in our breed.
What exactly is ataxia? Webster's Dictionary defines "ataxia" as "loss of coordination of the muscles, especially of the extremities." Very simply, an ataxic dog is wobbly. Murphy was and is ataxic.
Once Debbie knew of Dr. Bell's work with CA, she contacted him and then Dr. Alexander deLahunta, a renowned authority on cerebellar disorders at Cornell University in New York. Dr. deLahunta and Dr. Bell confirm that Murphy has cerebellar abiotrophy. Their diagnosis, based on physical findings, will be checked by autopsy when Murphy dies. Dogs with CA have cerebellums smaller than normal, at least in progressed disease, and certain abnormalities in brain cells. An MRI has already established that Murphy's cerebellum is small. CA-affected dogs aren't born with a smaller cerebellum though. It becomes smaller upon death of certain brain cells. Therefore, dogs diagnosed with CA early in life may not show a smaller cerebellum
While a trustee of STCA's Health Trust Fund, I learned through Debbie of Dr. Bell's interest in ataxia and cerebellar abiotrophy in Scotties. Dr. Jerold Bell is director of the clinical genetics course at Tufts University School of Veterinary Medicine and advises many national breed clubs on genetic issues. I wrote Dr. Bell for information.
Dr. Bell replied: "Cerebellar abiotrophy (ataxia)...is a slowly progressive degenerative condition that affects muscular coordination and movement. It does not affect the senses. Ataxia refers to the clinical symptom of incoordination, while abiotrophy refers to the premature cell death in the cerebellar region of the brain that causes the incoordination. This disorder is hereditary, and I have studied it in many breeds, including Gordon Setters, Old English Sheepdogs, Spinoni, and a related disorder in Kerry Blue Terriers. In these breeds, the disorder is inherited as a simple autosomal recessive trait...Some owners or even veterinarians may confuse the disorder with Scottie Cramp on first presentation. However, CA is a slowly progressive condition that does not go away, and Scottie Cramp is an episodic condition...
"If the Scottish Terrier Club of America or the STCA Health Trust is interested in determining the mode of inheritance, objective frequency estimates, genetic spread of the defective gene(s) causing CA, and recommendations for genetic control, I am available to do so...if the STCA is interested in a study to determine the genetic parameters of cerebellar ataxia in the breed, it will require interviews of owners/breeders, veterinary confirmation of diagnoses, pedigree analysis, and informational releases to the club. Depending on the number of affected dogs, the cost for such a study would be up to $l,000."
For Health Trust Fund to consider Dr. Bell's offer, it will be helpful to know more about incidence of cerebellar ataxia, and more specifically cerebellar abiotrophy, in Scotties. Although owners may have been told their Scotties have "progressive neurologic disease," it is impossible to know from the STCA's 1995 Survey if the ataxia reported is caused by cerebellar abiotrophy or other neurologic conditions.
In June 2000, Dr. Jerold Bell, DVM, and Dr. Alexander de Lahunta, PhD., DVM, examined a videotape of Murphy, my Scottie, who suffered for years with an undiagnosed movement disorder that affected his ability to walk normally. After considering Murphy’s history, both doctors agreed he had clinical symptoms of Cerebellar Abiotrophy (CA), a rare, slow-to-progress neurological disease that causes loss of coordination. Having experience with this disorder and after finding other CA affected Scotties; these doctors realized CA was a newly described disorder affecting the breed. Prior to that time, it wasn’t yet established that this disease existed in Scotties so their discovery was quite astounding.
CA causes ataxia or the “inability to coordinate voluntary muscular movements.” Some Scottie owners might have encountered this disorder over the years, no one can be certain. In 1995, the STCA HTF breed survey indicated the incidence of ataxia in Scotties was one affected out of every 200 dogs. It was therefore established Scotties had ataxia, but no cause was determined. In an effort find more CA affected Scotties, Carole Fry Owen, a well-known health advocate for the breed, published the article “Ataxia in Scotties: Wobbly Dogs” which appeared in The Bagpiper, the Scottie Scamper and on the STCA website. Many owners of “wobbly” Scotties responded to that article and have since received a clinical diagnosis of CA in their dogs. Recently, in August 2001, two veterinarians from South Africa published the first scientific study on CA in the Scottish Terrier, confirming the disease affects the breed, however, before that report was even published, Dr. Bell, Dr. de Lahunta and the STCA HTF were already at work on the problem!
Symptoms of CA include failure to control the rate, range, and force of a movement, exaggerated limb responses, such as goose-stepping or hopping and delayed and exaggerated postural responses, such as under or overshooting a food bowl when attempting to eat. Limb movements are spastic, clumsy, faltering, and jerky. Often a broad-based stance is present and swaying of the hips may be seen while walking. Symptoms are usually noticed between six months to one year of age and beyond and can be subtle at first; often an owner only suspects their Scottie is clumsy.
CA can be difficult to diagnose. The relative mildness of symptoms and its slow-progression can cause some to mistake CA for Scottie Cramp. Most dogs with Cramp appear normal and only exhibit symptoms occasionally. Signs of uncoordination associated with CA are always present once symptoms develop. Some Scotties have Patella luxation (slipping-kneecaps), which can also complicate diagnosis but that is another unrelated condition affecting one or both hind legs.
History of CA Project
Dr. Bell is the Assistant Clinical Professor of Genetics at Tufts University School of Veterinary Medicine and is the national project administrator for numerous genetic disease control programs of purebred dogs. Once aware of CA in the Scottish Terrier, Dr. Bell explained the following: “As this disorder has not been “worked up” and reported in the breed, there are many owners, veterinarians, and neurologists out there that are not informed of its presence. An important first step and contribution to the breed is to document it”.
Dr. Bell contacted the STCA and submitted a proposal, offering to determine the genetic parameters of CA in the breed. In May 2001, less than one year after learning of CA in Scotties, the STCA HTF formally retained his services. In the short time Dr. Bell has been working on this project, he’s been able to confirm CA is hereditary in Scotties and caused by a defective autosomal recessive gene.
Autosomal recessive inheritance means both parents carry a defective gene that can be passed on to male or female offspring. If a dog inherits two copies of the defective gene, one from each parent, they will be affected. If only one copy is inherited a carrier is produced and if no defective gene is inherited, the dog remains clear. Because both parents of an affected dog are positively identified as carriers and repeat breedings would produce additional affected dogs, anyone having a Scottie diagnosed with CA should notify the breeder and owner of the sire who produced the dog.
Presently Dr. Bell is working to determine how widespread CA is the breed and his database grows with each Scottie diagnosed. He has made recommendations to the STCA HTF for collection and storage of blood samples from affected Scotties, and possibly their relatives, to insure DNA is available for future studies. Hopefully that will lead to the development of a test for carriers. Once a test is available, a breeder could determine if their dog carries the defective gene before they were bred.
Dr. Jerold Bell, DVM
What We Know So Far
In August 2002, Dr. Bell reported that 20 Scotties were diagnosed with CA. He had reports of additional dogs with symptoms that sounded like CA and was awaiting videotape or follow-up on those dogs. He’s indicated the defective gene responsible for CA is very old and widespread throughout the breed. At least 6 ancestral lines trace back 7 or 8 generations and come together to produce an affected dog. The Scotties from South Africa trace back to English ancestors common to American dogs. At this time Dr. Bell says there is no particular “hotspot” of risk and pedigree analysis is still premature right now. Eventually, that will become available by Dr. Bell once more information is learned about CA in Scotties.
The STCA HTF has retained Dr. Bell for an additional year, September 2002 to August 2003. Please see The Bagpiper and the STCA website for any additional updates.
Murphy, a beautiful, healthy 12-week-old Scottie pup came to me in 1994. He was typically full of energy and lightheartedness. He played hard and acted as any other puppy would. Nothing unusual was ever noticed concerning his movements but in time I would learn that Murphy’s future would be anything but normal. The burden he now carries is continual and without end. I need to tell his story because other Scotties are at risk and even though nothing can help Murphy, maybe bringing his problem in the open will one day help others avoid the disease he is afflicted with. Also finding a diagnosis for Murphy was a long and difficult process, others shouldn’t have to wait the six years I did to finally have an answer.
One winter day when Murphy was about 7 months old and engaged in a playful attack against the snow shovel, his back legs locked-up and he couldn’t move. I ran to him, picked him up and examined him indoors. Nothing seemed amiss; he walked and acted completely normal. When this episode reoccurred a few days later during the same activity, I knew something was wrong. I took him into my vet.
After watching Murphy walk, my vet noticed an inconsistency in movement and about two minutes later had a diagnosis of Patella Luxation (slipping knee-caps). He assured me this could be repaired and Murphy would be completely normal after surgery. I was very disappointed hearing of this condition in Murphy, but pleased that in time he would be okay. My vet wanted to delay surgery until the cruciate ligaments snapped, I was told to wait.
As time passed Murphy seemed to only get worse. He began using his nose as a “fifth” foot to aid in balance and he was having difficulty going up stairs. He tripped and fell frequently, his back legs were spread apart and he lifted his front legs higher than seemed appropriate; almost like stepping on something “hot”. He also appeared to be jacked-up in the hindquarters, back legs stiff and when he ran both hind legs moved at the same time, resembling how a bunny would hop. I still thought all of this attributable to his bad knees but my vet assured me Murphy would be all right after surgery.
Two things occurred next, one being an article in Dog Fancy Magazine advocating Patella Luxation be addressed upon the earliest diagnosis and surgery not delayed. The long-term affects of arthritis were minimized with this new recommendation. Then, I had an occasion to see another local vet who after viewing Murphy’s condition disagreed his knees were his only problem. He suggested some sort of underlying neurological condition. Back at my vets office I reiterated this information to him and a decision was made to perform knee surgery but first seek another opinion of Murphy’s problem with a neurology specialist.
We had Murphy reexamined at approximately two and a half years of age. The specialist put him through a series of tests and maneuvers then declared him “perfectly fit,” subsequently giving the go ahead for knee surgery. My vet performed the knee surgery on Murphy and said he had a 99.9% chance of complete recovery. He happily told me he would be perfectly normal afterwards.
Unfortunately, this wasn’t the case. After a long recovery it soon became clear that Murphy wasn’t responding in the typical manner and was now even worse than before. Although his knees were repaired, he not only needed some help up stairs but down as well, he fell more often and became shaky and unsure in his movements. His back legs were even more wide spread than before; he tripped constantly and now his head would slightly bob while eating or drinking.
I returned to my vet and his disappointment was obvious. He now agreed Murphy did indeed suffer from some sort of progressive neurological disease but could not identify the disorder. Murphy would only get worse and no treatment was suggested.
Not long after learning of Murphy’s condition, another of my dogs, Murphy’s sister Mattie became sick. She was eventually diagnosed with megaesophagus and it was then determined she suffered from Myasthenia Gravis. It was recommended I see an Internal Medicine specialist for Mattie and once there, after her disease was under some control, I brought Murphy into this same clinic to get another opinion of his condition. They too had a neurology specialist on staff and maybe by now another doctor would have an answer; also what if help were available? I had to try.
Once there we tested Murphy for Myasthenia Gravis, which was negative and nothing unusual showed up in his blood-work. I was told he definitely had a neurological disorder and was yet-again informed no known treatment was available. It was highly recommended I have a necropsy performed upon his demise. I had seen 4 doctors in all, 2 being neurology specialists and still no definitive diagnosis.
Another year went by, still Murphy worsened. His mental health throughout this whole ordeal was and is normal; he has not lost any intelligence. Nevertheless he had to wear a harness by now as he was not capable of navigating outdoors on his own without causing possible injury to himself and he had to be carried up and down any steps. He had some trouble eating and drinking since his head bobbing worsened, accompanied now by head swaying. He would fall often and bang his chin. His back legs were very widespread, his head carried low. He was now markedly unsteady and wobbly.
I was feeling so troubled by his slow decline and no one I knew had ever heard of a dog with Murphy’s condition. I felt there “must” be someone who could name this disease. While searching the Internet for answers, I now had questions regarding a disease known as Cerebellar Ataxia (CA). This disease was published 20 years ago and involved Gordon Setters. All the symptoms seemed to fit Murphy even though he was a Scottie. The studies said there was no treatment for the disease but maybe advances had been made and perhaps something was on hand to help this condition by now. I needed to be sure.
Returning to Mattie’s Internist, I asked about this disease and further testing. She believed Murphy had a “head problem” but even so, couldn’t state which one. She still held the opinion more money spent would be wasted and a necropsy would one day give me my answer. Also, during this visit I discovered the 2 doctors who examined Murphy previously were actually orthopedic specialists with some training in neurology, but were not board certified in neurology. The closest board certified neurologist was 5 hours away and Murphy had never seen one. After learning of this news, I needed to know if seeing an actual neurologist would be helpful.
I know my doctor was only trying to save me money. I know she was sure nothing could help Murphy, and she ended up being right. I appreciated all she had done but what she didn’t understand is without an actual diagnosis or name of what Murphy suffered from, I could not get it out of my mind that someone could be missing something. Maybe I should have given up and just stopped, but guilt actually drove me on. I would look at Murphy everyday and feel that I hadn’t tried hard enough. I still had not found an answer to what it was he had, and hope was there, I couldn’t let go.
The Internist finally accepted a videotape of Murphy and agreed to send it on to a board certified neurologist. Surprisingly, after viewing the tape the neurologist was in favor of an MRI. There was new hope and this particular neurologist felt that high-dose prednisone therapy could possibly help Murphy’s condition depending upon what the MRI showed. I was encouraged but also apprehensive. Prednisone treatment has many side effects; on the other hand if something could help the slow, insidious progression of his disease I would have been very grateful for that. Murphy was now 6 years of age and his disease was advancing to the point where he required help constantly. He now needed regular supervision and even support at his water dish to insure he received enough to drink at one time; otherwise he would topple over, away from his dish and not be able to continue. The MRI was scheduled in one week’s time.
At this same time I received a complimentary issue of the "Scottie Scamper" from the editor Leona Carter, it contained a piece about Murphy's sister Mattie with MG. In the Scamper there just happened to be a small article concerning Cerebellar Ataxia. This item caught my eye at once. Here, it stated that the STCA did a health survey in 1995 and CA was present on the list of diseases in the Scottie. Dr. George Padgett made a guesstimate that 13% of Scotties carry this recessive gene. Carole Fry Owen, a member of the STCA Health Trust Fund previously wrote a Health Search/Health Share segment in the Bagpiper that included a description of CA taken from the Old English Sheepdog of America publication, the Old English Times. Leona Carter reprinted Carole Fry Owen's health share commentary in the Scamper, hence the article that caught my eye.
I showed my issue of the Scottie Scamper to the Internist and she wondered how to contact Dr. Padgett. I wrote Leona Carter again who was kind enough to give me the E-mail address of Vicki Michaels, the editor of the OET. Vicki sent me the 1998 issue of the OET, which contained news of the OESCA current involvement with professionals trying to stop the progression of this disease in the Sheepdog and included a lot of information about CA as well. Vicki also gave me the E-mail address of Dr. Jerold Bell, DVM, who is working with the OESCA on this disease with colleagues, trying to find and identify the defective gene responsible for CA in the OES.
One week before Murphy’s scheduled MRI, I wrote a letter to Dr. Jerold Bell explaining as well as I could all of Murphy’s history and my interest in trying to find a diagnosis for my Scottish Terrier, and my suspicions of CA. Dr. Bell responded and included Dr. Alexander de Lahunta, a renowned neurologist, familiar with Cerebellar Abiotrophy (Ataxia) in our E-mail conversations. Here is part of his response:
“I contacted two neurologists this morning. One had not heard of the problem in Scotties. The other, Dr. Alexander deLahunta at the Cornell University College of Veterinary Medicine (in Ithaca, NY), is a renowned authority on cerebellar disorders. He has seen a Scottish Terrier with signs like Murphy, and found that it was cerebellar abiotrophy (ataxia), just like in the Gordon Setter. With Murphy's age of onset of around seven months, the progression and signs that you are describing to age six at this time, and the confirmed diagnosis in another of the same breed, cerebellar abiotrophy is the diagnosis that has to be high on the list. There is no specific test aside from autopsy findings that confirms the diagnosis. A six year old affected dog can show a smaller cerebellum on MRI, but not all affected dogs have this finding.
Dogs affected with cerebellar abiotrophy can live a normal lifespan, or their incoordination can progress to the point that they cannot get around without hurting themselves from constant falling. It does not affect their mental attitude; only their muscular coordination. Prednisone will not affect the clinical signs or progression of the ataxia. This is a hereditary disorder, and in all of the breeds we have identified to date, it is passed on by a simple autosomal recessive gene. This means that affected dogs have two defective genes, and each parent has to be a carrier of the defective gene”.
Jerold S. Bell, D.V.M.,
Clinical Assistant Professor of Genetics
Tufts University School of Veterinary Medicine
When I received this response, I was stunned and quite sure Dr. Bell and Dr. de Lahunta were correct. These doctors not only knew this disease well, they had both seen affected dogs, in Dr. de Lahunta’s case, he’d seen an actual Scottish Terrier. Unfortunately, I also learned no treatment is available for CA. I still had an MRI scheduled in a few days and Dr. Bell (along with Dr. de Lahunta) wrote this to me the day before we had Murphy’s MRI performed:
“With Murphy’s long-standing presence of clinical signs, the MRI may indeed show a smaller cerebellum, which would point in the direction of CA. The parameter of cerebellar measurement by MRI is what is being standardized at this time”.
Due to this new information received from Drs. Bell and de Lahunta, not only did I now have a very good idea of what Murphy suffered from, I could also relay this news concerning CA to my doctor. If Murphy’s cerebellum turned out to be smaller, I knew I would be convinced without a shadow of doubt that he had this condition.
June 10, 2000 an MRI was performed on Murphy. Afterward I spoke with my doctor for a few minutes and she confirmed that Murphy did indeed have a smaller than average cerebellum. I now knew for sure we had come to the end of the road and had finally found the elusive diagnosis that I needed to hear. I know this wouldn’t have been the case had I not been in touch with Dr. Bell and Dr. de Lahunta. My doctor described Murphy’s condition as a hypoplasia, she commented that if only we had an earlier MRI we could be sure of the diagnosis as CA. Thanks to Dr. de Lahunta she now knows this couldn’t be the case. Dr. de Lahunta had this to say concerning Murphy’s MRI results:
“To be accurate concerning Murphy's brain disorder, he most likely has the condition that Dr. Bell described as an abiotrophy. You cannot tell the difference between a hypoplasia and abiotrophy on the MRI. The MRI just shows you that the cerebellum is too small. A hypoplasia is a developmental disorder in which the cerebellum never grows to its normal size and the pup is born ataxic and stays that way without changing all its life. Murphy has a progressive disorder-his ataxia has worsened over the years - because although his cerebellum grew originally to its normal size it then began a slow degeneration. Neurons are supposed to last the normal life span of an individual. If they have a genetic defect they may start to die prematurely and this can even begin shortly after birth. This intrinsic cell abnormality resulting in its death is called an abiotrophy. A population of neurons in the cerebellum called Purkinje cells are especially prone to this disorder. The clinical course in Murphy and the MRI strongly support this diagnosis. Unfortunately
the animal can not replace these neurons and neither can the veterinary profession nor can we stop this progressive degeneration. There are many human disorders similar to this. Although we cannot offer much help to Murphy - except for providing the correct diagnosis - the disorder can be prevented in other Scotties when we understand the nature of the genetic process that resulted in this degeneration. This is where Dr. Bell can be so helpful for you and the breed. Fortunately as you have recognized, this cerebellar disorder only affects Murphy's ability to move and not his sensorium - his ability to respond to you and the rest of his environment.
Every week I present clinical neurology rounds for students and interested staff here at the Veterinary College at Cornell. I have been showing them my recent experiences with this Scottie disorder. When I have a copy of your tape and the MRI I will be sure to show that to them as well so they will be familiar with this disorder when they get into practice”.
Thanks for contacting me,
A. de Lahunta
I understand in order to have an absolute definitive diagnosis of Murphy someday I would need to have a necropsy performed. I have no doubt that CA would be the finding. My search was over and I was very thankful to these two dedicated doctors who helped me immensely in such a short period of time. The most significant lesson learned from my experience was the importance of seeking help from a qualified neurologist if a neurological problem is suspected. I may have saved years in my search if only I had known to do so. I now have the view that if a specific disease isn’t established in a particular breed of dog, some doctors are reluctant to pursue that disease as a possible diagnosis. Also, I must mention the magnitude of Dr. de Lahunta’s work. Since he is currently “teaching” students to identify CA, in the future more vets will to be better informed about brain diseases and will be able to offer a diagnosis much sooner. How important that becomes when someone is desperately seeking help for his or her dog.
This is not quite the end of this story. Since CA has been discovered in the Scottie, Dr. Bell has made the most generous offer to “look into” this disease in the Scottish Terrier. He and Dr. de Lahunta helped so much with Murphy and now other owners and breeders of Scotties can benefit as well. Below, in Dr. Bell’s own words (I’ve disseminated), is information about CA and what he is offering:
“As this disorder has not been "worked up" and reported in the breed, there are many owners, veterinarians, and neurologists out there that are not informed of its presence. An important first step and contribution to the breed is to document it”.
“The progression and severity between dogs varies. Some have severe signs (inability to walk short distances without falling) at a young age (2-3 years), and some can have mild signs. The severity of the clinical signs can vary between affected littermates. We have seen mildly and severely affected dogs within the same litter”.
“Scottie cramp could be confused with CA at first, but it is an episodic problem, not slowly progressive or continual. After a few minutes/hours, affected dogs are normal again. If there is confusion as to a diagnosis, I can help to differentiate/substantiate a diagnosis”.
“I am willing to do some pedigree analysis to confirm what we suspect is a simple autosomal recessive mode of inheritance for the disorder, and also to determine the genetic spread of the defective gene in the breeding population. At this time, I am available to anyone who feels their dog (or one they have bred) has a problem. I am here for the owners and breeders to understand what the problem is, assist with diagnoses, and answer any questions about their dogs”.
“You can give them my e-mail address, and share any of our correspondence. Again, my mailing address is: P.O. Box 3399, Enfield, CT 06083”.
Jerold S. Bell, D.V.M.
Clinical Assistant Professor of Genetics
Tufts University School of Veterinary Medicine
Dr. Bell has contacted the STCA concerning CA in the Scottish Terrier and more information will be forthcoming in the future. Please contact Dr. Bell if you have a Scottie you suspect has this disorder.
6556 Pinar Rd.
Harborcreek, PA 16421
Ph # (814) 899-2856
Diagnostic contact information:
DR. JEROLD BELL, DVM
P.O. BOX 3399
ENFIELD, CT 06083
Original Doc:Cerebellar Abiotrophy In The Scottie.doc
Cerebellar Abiotrophy and Breeding Strategies
By Vicki Campbell
Dr. Jerold Bell, of Tufts University, addresses
a crowd of approximately 70 Scottish Terrier
Breeders, exhibitors, and interested others at
the LuLu Temple, October 2, 2004, sponsored
by Scottish Terrier Club of America. Photo:
Reprinted with permission, Great Scots Magazine Nov/Dec 2004 Vol. 9, #6
On Saturday evening, October 2, 2004, about 70 Scottish Terrier breeders, exhibitors and ordinary Scottie lovers dragged their dog-show weary bodies into the Merrimack Room at Lulu Temple in Plymouth Meeting, PA. This was not a large room so this was a big crowd! There were many big name breeders there and some not so big, like yours truly. There was also a contingent of CA online support group members present. You could tell who they were because they were proudly sporting their brand new CA logo T-shirts.
The CA seminar was to be given by Dr. Jerold Bell of Tufts University and by Dr. Natasha Olby of NC State. We later learned that Dr. Olby had some health problems and would not be there. Dr. Bell introduced himself as a dog breeder, a veterinarian and a geneticist. I had never met Dr. Bell, but had emailed him once or twice when he first started this study three years ago. I heard he was a good speaker from a Briard breeder/veterinarian friend of mine, so I was hoping for the best. Right off I decided the guy must have a good sense of humor because he had a slide on the screen of a Mark Parisi cartoon dealing with snowmen and inconclusive DNA tests.
The program started with historical review of registration trends in Scotties in the last 20 years. In 1985 there were 5750 Scotties registered with the AKC (making us number 38 of all breeds). This ranking rose to number 36 in 1990 with 8724 dogs registered, but dropped down into the 40s during the 1990s due to many reasons including other purebred registries and pet store/puppy mill type groups. In 2003, 3559 Scottish Terriers were registered.
Dr. Bell next talked about genetic diversity in all breedsand how the "popular sire syndrome" can shovethe gene pool toward a particular individual and bottleneck breeding programs. This technique can shut out the use of other dogs with fewer ribbons and trophies, but who could add to the quality of the breed.
On the subject of breeding goals, Dr. Bell said that the PRIMARY goal of a breeder should be to maintain and enhance the quality of the breed - this MUST be your goal. The SECONDARY goal of a breeder is to breed genetically healthy dogs. There are a lot of healthy mutts out there and a lot of ugly, but healthy Scotties. You must breed for the "whole" dog. A breeder has to be able to see the whole picture. (When I heardthis, I thought, this is going to ruffle a few feathers, but in the long run I thought it made sense.)It is important not to produce affected dogs that are burdens to themselves and to their owners. As a breeder you must decrease the carrier frequency of defective genes, but if you refuse to breed carrier dogs altogether, there is the chance that you will eventually lose the breed.
Dr. Bell talked about the quality of the AKC Canine Health Foundation. They have phenomenal resources and the highest quality of research. He feels we should all support this program. The Scottish Terrier Health Trust Fund works with the CHF on research programs that involve Scottish Terrier health issues. The Canine GenomeSequencing project results will be announced in Holland soon, according to Dr. Bell.
Health surveys are important because they help determine trends of disease in the different breeds. According to the CHF, frequently occurring disorders in all dogs include the following: epilepsy, hip dysplasia, cancer, cataracts, bloat, hypothyroidism, PRA (progressive retinal atrophy), allergies, cardiac disorders, patellar luxation and eye disease other than PRA. The STCA health survey done in 1995 was looking for the following genetic health issues: Scottie cramp, VWD (von Willebrand's disease), Cushing's, hypothyroidism, epilepsy, CMO (cranial mandibularosteopathy), liver shunt and juvenile cataracts. The 1995 survey was the first comprehensive survey done by our parent club. Dr. George A. Padgett, DVM reviewed the findings and applied the Hardy-Weinburg rule to them and produced a "guesstimate" frequency rate. The "guesstimate of frequency" indicates the percentage of Scotties that may carry this particular trait. It does not indicate the number of affected dogs. The Hardy-Weinburg rule states there will be approximately I % affected for every 18% of carriers. Usually the Hardy-Weinberg rule is applied to single gene traits. Dr. Bell then showed many screens of things like risk assessment, and lots of numbers and ratios and percentages. There was way too much to try to write down and explain, but I did come out with one item in this segment that made sense to me. He was talking about the VWD testing and said that if one dog tests positive then the whole family should be tested. I would think this would be true for any disorder for which there are tests. Dr. Bell said the STCA (and all breed clubs) need to do health surveys more often than every ten years (the next STCA health survey comes out in 2005).
Finally Dr Bell arrived at the topic we had all been waiting for-Cerebellar Abiotrophy, also known as Cerebellar Ataxia. He said that it was the first time since starting this project three years ago that he was speaking to a group of Scottish Terrier breeders. CA is a disorder of movement and muscle coordination - and timing. It is like a muscular dystrophy BUT it is not MD. The Purkinje cells in the cerebellum begin to die off with this disorder. These cells act as a connector between several other cells in the cerebellum to control a process called proprioception. This process allows the mind to recognize where your limbs and body are in space. Because of this process you can close your eyes and still touch your nose because you know where it is. This process is progressively lost in a CA dog. Some suffer severe loss, others only mild loss. In fact, most affected Scottish Terriers show
only the mild symptoms. The severely disabled are in the minority. As we have all heard and said before, no one wants to produce a CA affected dog (or one with any other genetic disorder). It just happens and we as breeders and owners have to learn to take the stigma out of genetic disorders.
Holly, owned by Barbara and Michael Botak, PA., demonstrates crippling muscular effects of CA. Holly, Mickey and Fiona were poster dogs invited to the CA Seminar. CA renders these dogs no less loved and cherished by devoted owners. Photo: Vicki Campbell.
One of the signs of Cerebellar Abiotrophy is a hypermetric gait-goose-stepping. Dr. Bell showed video clips of affected Gordon Setters. These signs are much more obvious in the long-legged breeds.
Stairs are very difficult for CA dogs because stair climbing is a highly coordinated skill. Video clips showed an affected Old English Sheepdog carefully trying to place its paws on the steps so it would not fall - it was not a graceful sight. CA dogs have a smooth gait; they just don't know where their legs are going. Some CA dogs roach their backs, but not all of them do this. This is all part of the coordination problem caused by the loss of the Purkinje cells.
Dr. Bell did say a bit about the difference between Scottie Cramp and CA. Scottie Cramp is episodic - and there may be some cramping pain involved. CA is continuous and is painless (we think). It is often difficult to tell the difference between a mildly affected CA dog and one with Scottie Cramp, especially to the novice eye.
In diagnosing a CA dog, you need more than a video of the dog moving. You must have a diagnosis by a board certified veterinary neurologist in addition to the tape.
The tape must include the dog participating in running off lead, climbing stairs, chasing a toy and any other problem movements your dog may be exhibiting. It is also helpful to have an MRI of the cerebellum to check for shrinkage. Some young dogs will have clinical signs without a clinical history. Other brain or spinal disorders can cause movement problems too and these must be ruled out before a diagnosis of CA can be confirmed. Dr. Bell, Dr. de Lahunta (Cornell) and Dr. Olby will be reviewing submitted cases.
While discussing pedigree research-an important part of careful breeding-Dr. Bell said that a lot of dogs of various breeds came to the United States during the 40’s because of the war. Research in genetic disorders can sometime go back to these imported dogs.
In the current CA project, 38 Scotties have been confirmed with the condition. Of these there are 32 with submitted pedigrees. This is out of 111 Scottish Terrier contacts with Dr. Bell. There are more affected Scottish Terriers than any other breed in the study.
Part of the estimated 70 attendees, composedof Scottie breeders, exhibitors. and pet owners, at the CerebellarAbiotrophy/Genetics Seminar at the recent National Scottish Terrier Specialty at Montgomery County, PA.
Photo: Vicki Campbell.
Dr. Bell discussed the CA research project, which is a grant proposal to the AKC Canine Health Foundation made by Drs. Natasha Olby (NCSU) and Matthew Breen (NCSU). Dr. Breen is a top researcher who worked on both the canine genome project and the human genome project. In collaboration on this project are Drs. DennisO'Brien (UMO) and Jerold Bell (Tufts). They are going to be doing molecular genetic research to study Cerebellar Abiotrophy in American Staffordshire’s, Gordon Setters,Old English Sheepdogs and Scottish Terriers. All four breeds will require the same clinical and photographical presentation. The researchers will be looking for a simple autosomal recessive mode of inheritance andhoping to identify the defective gene for CA. The grant review has been done and apparently has a good reading. The process is to continue into January. All fourbreed clubs must support this research. Am Staff and the OES clubs already have DNA on affected families collected and stored.The research must be completed in two years. The Scottish Terrier part of the study must include diagnoses and confirmation of such, collectionand storage of family DNA, and the finding of the markers or genes identified in the other breeds in this study. An informational website must be set up for each breed. And the research group must contact the owners of the already diagnosed dogs every three months.
According to Dr. Bell, CA is not the most prevalent or important hereditary condition affecting our breed, butit is being diagnosed all over the world. It has a simple autosomal (pertaining to a chromosome that is not a sex chromosome) mode of inheritance and a wide pedigree base. Any Scottish Terrier line can produce an affected pup at this time.
The last "formal" partof the talk was on managinggenetic disease. Dr. Bell believes that no dogs should be put down or neutered because of genetic disease. The management recommended will vary due to many factors. In the case of "dominant" genes, you can replace the affected dog with a normal sibling in your breeding program. You do not want to knowingly breed affected dogs. For "recessive" genes where there are tests for the disorder, you can breed the carrier dog to a normal mate. Eventually you will breed the gene out of your breeding program. You can replace the carrier parents with geneticallynormal offspring. You want to select against breeding carriers, without losing the object of breeding quality dogs.
CHIC-the Canine Health Information Center-was highly recommended by Dr. Bell. It is an open health database for all breeds. National breed clubs must determine three diagnoses to be eligible. Usage of this service carriesno stigma-or it should not. In fact, it will help lower the breeding risks for many disorders.
Ah, the best part of the evening was, of course, the dogs! First up was Fiona, who was almost 11 and mildly affected. You mostly saw her back legs scrambling to figure out where her front half was going. She spent her evening visiting with the admiring crowd and cleaning the floors ofLulu Temple.
Everyone wanted to pet her. Next was Mickey who is 5 and has his CDX in obedience. He is also mildly affected. He was a wild man tearing around the place doinghis sits and fronts and all the cute stuff he has trained for all these years. His owner always thought he was a bit clumsy, but decided it was more than clumsiness when Mickey ranthrough the agility set up at his first training class-like a bull in a china shop. Both Fiona and Mickey showed that Scottie personality definitely could outshine any disability they might have. But the dog that brought everyone to tears was Holly, who is eight and is severely affected. Her dad put her down on the rug and her four legs went flat out to the sides. She maneuvered around by scooting on her tummy. Her dad said that sometimes if a strange dog or person ispassing by, she somehow could manage to get up on her legs and get to where she can tell them off. She has a little harness that lets her owner get her up on legs-more or less. Her first signs started showing up when she was about two andtaking handling classes. She certainly has the true "diehard" spirit of a Scottie and great Scottie attitude. But I am sure I wasnot the only one who had a knot in their throat watching her and seeing how devastating this disorder can be.
The seminar was to end at 9:30 P.M., but when I left at almost 10:00 P.M., Dr. Bell was still being bombarded with questions. We can only hope that this is the beginning of communication between breeders and owners and weare on our way to finding a way to breed CA out of the Scottish Terrier.
Vicki Campbell is a long-time Scottish Terrier breeder and exhibitor, living in Waldorf, MD. She is well-known to GSM readers as author of the popular “Healthwatch” pages in each issue, which she has written since the magazine’s beginning.