Update on Cerebellar Cortical Degeneration (Hereditary Ataxia) in American Staffordshire Terriers
January, 2003

Since we started investigating ataxia in American Staffordshire terriers, we have recruited 44 affected American dogs to the study and are working with researchers in Europe where the problem is unfortunately also well-recognized. Our initial aims are to establish how (and whether) the disease is inherited, to describe the full spectrum of signs that it causes, to characterize the pathological changes in the brain and to collect DNA (from blood samples) from affected and unaffected dogs. Our secondary aims are to use this information to hunt for the genetic defect that is causing the disease, and if we achieve this, to develop a test for the disease that could be used prior to breeding.

Progress

Owners and breeders of affected dogs have been extremely supportive of this work. This is a terrible disease and those that have watched a dog progress from the first signs of the disease (occasional staggering) to the more severe stages (dramatic swaying and staggering, with frequent hard falls and difficulty taking even a single step) are committed to trying to wipe it out. Unfortunately, we have confirmed that the disease is inherited, most likely by an autosomal recessive trait (in other words, dogs can carry one copy of the gene and they do not show any signs of the disease, it is only when a dog has two copies of the gene that the disease manifests itself), and the evidence so far suggests that the gene is widely distributed in the breeding population of American Staffordshire terriers. As the signs of this disease come on anywhere from 2 to 8 years of age, it has been extremely difficult tracing littermates to affected dogs in order to determine how many dogs in each litter are affected, information that is vital for confirmation of the mode of inheritance. We really need to hear from anyone who has a dog that is showing signs of the disease (staggering, wobbly), and anyone who has a normal dog, but knows that a littermate is affected…we need to know about the normal littermates as well.

The signs of the disease were described in our initial notice posted by the health committee. We are now suspicious that the signs are coming on earlier (around 2 years of age) and with greater severity (progressing over 6-24 months instead of 4-6 years) in the offspring of affected dogs. Although there is no diagnostic test that can truly confirm the presence of this disease other than an autopsy, we have found that the cerebellum, (the part of the brain that controls coordination) is small on magnetic resonance (MR) images in affected dogs. Unfortunately, MR images are not useful for detecting the disease prior to onset of signs so cannot be used to detect the disease in apparently normal dogs prior to breeding from them.

With the help of owners, breeders and their veterinarians, we have collected DNA from a lot of affected and unaffected dogs and we are getting to the point where we can start to do the genetic analysis. Unfortunately, we are now limited by a lack of funds: this type of work costs thousands of dollars, and in the current financial climate, that money is just not available. We are working hard to try to find the kind of funding that we need, and in the meantime we are continuing to collect DNA, pedigree information and to confirm the presence of the disease when dogs die by performing an autopsy (this last stage is critical to the research as it is currently the only way to definitively confirm the presence of the disease). We would like to thank all the dedicated owners and breeders of AmStaffs for the help that they have given us so far, and to urge those who suspect that they have an affected dog to contact us. We will maintain the anonymity of affected dogs and their owners.

We can be contacted on : 919 513 6327 (Jeanne Burr) or 919 513 6476 (Dr Natasha Olby)
e-mail addresses: Jeanne_burr@ncsu.edu, and Natasha_olby@ncsu.edu.

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