Tag archives: ataxia

As of January 2021, Paw Print Genetics (PPG) is proud to offer 44 new inherited disease tests for the canine health and breeding community. While these new tests are associated with diseases identified in dozens of breeds, the population size of each breed and the relative frequency of these mutations in those populations mean that some of these diseases are much more likely to be seen in clinical veterinary practice than others. Here we will highlight five diseases from the recent PPG test additions that are among those most likely to be diagnosed in the veterinary hospital setting.

Cerebellar Degeneration- Old English Sheepdog and Gordon Setter¹

A genetic mutation in the canine RAB24 gene is associated with a juvenile-onset, autosomal recessive form of cerebellar degeneration (CD) in two seemingly disparate breeds, the Old English Sheepdog (OES) and Gordon Setter (GS). Also referred to as hereditary ataxia or cerebellar abiotrophy (CA), CD presents between 6 months and 4 years of age with progressive neurological dysfunction due to degeneration of cerebellar neurons, especially Purkinje neurons. Coordinated movement becomes progressively more difficult as the disease progresses and can include intention tremors, ataxia, and a stiff, high-stepping gait (hypermetria). Affected dogs are often ...

As part of our commitment to raising the standard in canine genetic disease testing, the team at Paw Print Genetics works hard to assess the validity of genetic mutations published in the medical literature and to develop new disease tests based upon this information. The most recent test to be added to our extensive disease testing menu is for a disease known to be inherited in golden retrievers called   neuronal ceroid lipofuscinosis 5.

What is neuronal ceroid lipofuscinosis 5?

Neuronal ceroid lipofuscinosis (NCL) is an inherited neurological disease belonging to a group of diseases called lysosomal storage diseases. There are multiple types of NCL, each given a number designation based upon the specific gene in which the associated genetic mutation is found. For example, dogs diagnosed with neuronal ceroid lipofuscinosis 5 (NCL5) have inherited a genetic mutation in the canine CLN5 gene. Although there are multiple dog breeds known to inherit NCL5 due to mutations in this gene, the specific mutation responsible for this disease in golden retrievers has only been found in this breed; thus, making testing for NCL5 in golden retrievers breed-specific.

What do the symptoms include?

Dogs affected with NCL5 are born with a deficiency of a ...

There aren’t many things sweeter in life than a cavalier King Charles spaniel (CKCS). From their friendly, outgoing demeanor to their adorable, pouty eyes, they have definitely become one of my favorite breeds over the years. It appears that others understand my enthusiasm for the breed as well. In the fifteen years from 2002 to 2017, CKCS have moved up from 40th place to 19th place on the AKC’s registration statistics and are one of the most popular breeds in the United Kingdom. Unfortunately, like other popular dog breeds, cavaliers have their share of inherited diseases that can potentially reduce their quality and quantity of life. At Paw Print Genetics, we strive to control these diseases for our canine companions.

One interesting yet, debilitating disease unique to the CKCS is an inherited neurological condition first reported in 1983¹, known as episodic falling syndrome (EFS). Affected dogs begin showing signs of spastic muscle contractions of the limbs and trunk between 14 weeks and 4 years of age particularly during exertion, excitement, or frustration. As an episode starts, affected dogs most commonly develop rigid hind limb extension, a convex bending of the spine (“roach backed”), and hold their head near the floor ...

One of the happiest days of my life was bringing home a German shepherd puppy to join our family. Like many parents, my wife and I wanted our only son Brandon, who was 5 or 6 years old at the time, to grow up around dogs and help us teach him some responsibility. We visited a family with a litter of 7 week old puppies to let Brandon pick the one that was going to be his buddy while he grew up. Brandon decided on the quietest pup in the litter to become our new dog, Griffey. Our journey with Griffey (Griff for short) began with Brandon and his new companion in the back of our convertible in route to the home we were excited to share with our new family member. My wife and I were hopeful that Griff would give Brandon a best friend for 10 to 13 years. Unfortunately, that wasn’t exactly how things worked out.

Signs of Trouble

We spent many years loving Griff and giving him the best years of his life. Brandon and Griff were inseparable as they aged. They played together, they napped together, and they got into trouble together. At about 8 ...

With a beautiful variety of coat colors and markings in combination with their impressive muscular build, the striking appearance of the American Staffordshire terrier (AST) is one to behold. The modern AST can trace its origins to 19^th century England when bulldogs of the time were bred to terriers in an attempt to create a dog with the most desirable personality traits of each breed (the specific breed of terrier used in the early breedings is in dispute among domestic dog historians and may have actually been multiple terrier breeds). In 1972, the original name of the breed (used from the time of their 1936 acceptance into the American Kennel Club), Staffordshire terrier, was changed to the current, American Staffordshire terrier by breeders to distinguish their breed of heavier, American bred dogs from the original Staffordshire terrier of England.

As the AST has progressed as a breed, so has the understanding of the genetics that underlies the breed we see today. In addition, the discovery of particular genetic mutations responsible for causing inherited diseases has allowed for the development of genetic tests to identify nonsymptomatic carriers and young dogs affected with late-onset inherited disorders. Through the genetic knowledge gained ...

Despite its 19^th century reputation as a ferocious and fearless competitor in the cruel sport of dog fighting, the modern, well-bred Staffordshire bull terrier (SBT) is an affectionate, friendly, and loyal companion. At only 24 to 38 pounds, the SBT’s impressive, muscular frame is now a relic from a distant time when dogs slept in the backyard instead of the bedroom and often proved their worth through the use of their agility, strength, tenacity, and teeth. Through nearly a century of careful selective breeding for temperament, the SBT has become as suitable for the family as they once were for the fighting ring. As with other purebred dogs, along the path of breed improvement, the SBT has developed some inherited diseases that have caused problems for SBT owners and breeders alike. One of the most concerning inherited diseases in the SBT is the neurometabolic disorder commonly referred to by the acronym L-2-HGA; short for L-2 hydroxyglutaric aciduria.

What is L-2-HGA?

Dogs affected with L-2-HGA lack functional copies of a protein important in eliminating L-2 hydroxyglutaric acid (a normal product of metabolism) from the body. As a result, L-2 hydroxyglutaric acid accumulates in the urine, blood, and cerebrospinal fluid. Though ...

If there is anything that I have learned in Paw Print Genetics’ quest to prevent canine inherited diseases, it is that degenerative myelopathy (DM) is one of the most misunderstood diseases in the dog breeding community. This late-onset, progressive neurological disease is notorious for cutting affected dog’s lives short and preventing them from living out their golden years. Unfortunately, sometimes there are misunderstandings in regard to what causes DM, what DM genetic test results mean, and whether or not DM occurs in certain breeds or bloodlines. I will attempt to address the confusing aspects of DM in order to empower people to eliminate this devastating disease from their blood lines.

How Do DM Affected Dogs Present? How is it Inherited?

Dogs affected with DM typically begin showing signs of painless, hind limb weakness and loss of balance around 7 to 10 years of age. These dogs often have difficulty rising after lying down, will drag their hind feet while walking, and abnormally cross their legs while standing. As the disease progresses, affected dogs’ front limbs also become progressively weaker until the dog becomes unable to walk. Affected dogs also may develop urinary and fecal incontinence as the disease progresses. Most ...

Previously known as the Jack Russell terrier, the Parson Russell terrier’s nearly 200 year long history began in the 1800’s when Parson John Russell of England obtained a terrier named Scout with the purpose of training him for European red fox hunting. Russell eventually developed a particularly adept line of terriers meant to run alongside hunters on horseback and dispatch foxes.

The name, Jack Russell Terrier was previously used to encompass dogs which are now recognized as three separate breeds in the U.S, the Jack Russell terrier, the Parson Russell terrier, and the Russell terrier. Despite their close genetic relationship and very similar appearance, leg length and body shape can be used to help differentiate the three breeds. Parson Russell terriers possess the longest legs and a square-shaped body while the other two breeds display shorter legs and a rectangular body shape. The Russell terrier is the shortest of the three varieties. Parson Russell terriers and Russell terriers are both recognized by the AKC, however the Jack Russell Terrier remains unrecognized by the organization and is bred primarily for its ability to hunt rather than for its conformational merits. Despite these physical differences, the three breeds share many genetic similarities ...

From their roots as a well-rounded Swiss farm dog, the modern Bernese mountain dog (BMD) is well known for its friendly and affectionate demeanor. This intelligent and adaptable breed has gained the love of many Americans since its introduction to the United States in 1926. In 2014 the BMD moved to 31^st place in the AKC registration statistics and appears to be growing in popularity as the breed has moved up 8 places in the rankings since 2009.

Like many purebred dogs, the Bernese mountain dog is known to inherit some health issues that are of major concern to breeders. Unfortunately, genetic discoveries for some of the most concerning inherited issues for BMD breeders, such as a type of cancer known as histiocytic sarcoma, have remained elusive. However, some inherited diseases of Bernese mountain dogs can be avoided through the use of genetic testing technologies and selective breeding practices.

Degenerative Myelopathy

The late-onset neurological disease, degenerative myelopathy (DM) is one such disease that can be prevented through genetic testing. In 2009, a mutation in the canine SOD1 gene was described as a major cause of DM. Since then, the mutation has been reported in over 100 dog breeds including ...

 In this second blog of a two part blog series (read part one here) about inherited diseases of the wonderful old English sheepdog (OES), we will examine two inherited diseases reported in multiple dog breeds in addition to the OES.

Degenerative Myelopathy

Historically a disease associated with the German shepherd dog, degenerative myelopathy (DM) has now been identified in over 100 dog breeds. A canine disease similar to amyotrophic lateral sclerosis (“Lou Gehrig’s Disease”) which affects people, DM is a late-onset neurological disease caused by a mutation in the SOD1 gene. Affected dogs initially present around 7 to 10 years of age with weakness in the hind limbs and difficulty rising after lying down. As affected dogs gradually lose the ability to fully control their hind limbs, it is common for them to begin dragging their hind feet while walking and may occasionally lose their balance and fall over. In some circumstances, affected dogs will also suffer from urinary and/or fecal incontinence. Once initial signs of disease present, progression of the neurological dysfunction to the front limbs tends to be rapid with most dogs losing the ability to walk within 6 months to two years.

Diseases with a late ...