Tag archives: seizures

At Neogen/Paw Print Genetics (PPG), we are always exploring the current research to produce new tests for disease-causing mutations.  Every month new discoveries are made and published in the veterinary scientific journals.  On September 28, 2022, we added a host of new tests for disease-causing mutations in many breeds to our menu as we strive to be a convenient source for your genetic testing requirements. Listed here are the 20 new tests PPG is now offering and some of the breeds affected by these mutations.  Some of these new tests are for mutations that are rare, even within the associated breeds of concern.

New tests for the basset hound

We are thrilled to now offer a test for Lafora Disease.  This test for the late onset neurologic condition has been much anticipated for the basset hound, miniature wirehaired dachshund, and other breeds at risk.  Because Lafora Disease presents later in a dog’s life, knowing the status for this mutation and breeding appropriately will lower the frequency of the mutation within a population and reduce the number of at-risk/affected dogs.  The NHLRC1 mutation is a complex test that requires high-quality DNA. Therefore a ...

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 ...

In this third part of a four part blog series examining preventable inherited diseases in the Labrador retriever (See previous blogs here; part one and part two) we will be examining a relatively common neuromuscular condition known as exercise-induced collapse and a skin disorder unique to the Labrador known as hereditary nasal parakeratosis.

Exercise-Induced Collapse

There aren’t many inherited diseases more concerning to Labrador lovers than exercise-induced collapse (EIC). This potentially fatal condition caused by a mutation in the DNM1 gene results in an inability to produce adequate amounts of a protein called dynamin 1, which plays an important role in nerve signal transmission in the body. As its name suggests, dogs affected with EIC typically present during periods of intense exercise, often before 2 years of age. During an episode of collapse, affected dogs will commonly develop an awkward, wobbly gait that progresses to severe weakness, dragging of the hind limbs, and collapse lasting for 5 to 10 minutes. Though unable to rise, dogs experiencing an episode of collapse are usually mentally alert and pain-free. Most dogs completely recover within 30 minutes and appear normal between episodes. Most concerning however, is that in some cases affected dogs can progress ...

The popularity of the Labrador retriever doesn’t seem to wane.  It has been the number one dog breed registered by the American Kennel Club from 2002 to 2012 (the last time registration statistics were calculated) and is currently the most popular breed in the world.  Their cheerful dispositions, great prey drive, and high intelligence, has made them a common sight in American households.  Unfortunately, like many dog breeds, certain inherited diseases have become an issue as the popularity of the breed has increased.  One such disease, centronuclear myopathy (commonly referred to as “CNM” by Labrador breeders), has become a concern for the breed.  It is currently recommended (though considered optional) by the Labrador Retriever Club to perform genetic testing for CNM on all Labradors.  Despite that many Labrador breeders are currently testing for the disorder, from conversations, I have discovered that many breeders still have a significant number of questions in regards to what the disease actually is and what causes the symptoms seen in CNM.

CNM is a hereditary muscle disease of dogs caused by a genetic mutation in the PTPLA gene.  This disease was first described in dogs (Labrador retriever) in ...

Neuronal Ceroid Lipofuscinosis (NCL) is a group of inherited mammalian diseases characterized by abnormal accumulations of a metabolic byproduct known as lipofuscin in nerve cells and various organs of the body.  The accumulation of lipofuscin eventually leads to progressive nerve cell dysfunction and severe neurological symptoms including behavioral changes, balance issues, muscle atrophy, uncoordinated movement, blindness, head tremors and seizures.  Other organ systems can also be affected to various degrees depending on the severity of lipofuscin build up.  Most dogs will die due the disease or are euthanized when neurologic problems progress to the point of preventing normal daily activities.  While most types of NCL begin to cause clinical signs around 1 to 2 years of age in dogs, the age of onset and speed of progression vary significantly upon the type of NCL.  Variable presentation and progression among NCL types is expected given that multiple genes can cause this clinical condition.

Unfortunately, details about disease incidence and prevalence within a breed are often difficult to obtain including NCL.  Without going into an in-depth discussion about statistics, among other conditions, in order to estimate incidence and prevalence of disease for an entire population, individuals ...