Neuronal Ceroid Lipofucinosis or NCL - Golden Retrievers : Golden Retriever Dog Forums
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post #1 of 127 (permalink) Old 01-15-2019, 05:10 PM Thread Starter
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Neuronal Ceroid Lipofucinosis or NCL

This was copied from another popular retriever website, which contained express permission to post to other websites:

"For those not yet aware, a new (potentially serious) genetic condition is being investigated. Although it is particularly concerning to the owners and breeders of US field dogs, it has been identified in a N. American show dog and in a Russian bench dog. This condition is present in other breeds, but only recently become apparent in goldens. The condition is known as Neuronal Ceroid Lipofucinosis or NCL. It is nasty. Affected dogs begin to show clinical signs around 18 mos and by 2 their quality of life is such that they must be put down. Clinical signs are loss of sight, confusion followed by loss of motor skills and eventual paralysis.

"Fortunately it is a recessive gene and dogs are characterized as clear, carriers or affected. Breeding a carrier to a clear will NEVER result in an affected dog, but carrier to carrier could result in affected pups and potential heartbreak. As such, I believe it is extremely important for a large portion of the field golden population to be tested, much in the way we have been testing for ichthyosis. This is potentially far more devastating than a skin disorder. Even if you do not plan to breed your dog, it is still important to test as your dog's test can potentially identify carriers among your dog's progenitors and give researchers a larger sample pool to work with.

"Even as a rare condition, there are a few very well know dogs who have been identified as carriers. There is no reason whatsoever to avoid these dogs as part of a breeding program. Avoiding these dogs and other carriers would further tighten our already too tight gene pool. Intelligent decisions can be made with a simple test of the sire or dam.

"In the US, although Paw Print and Optigen are working to license the test, only the University of Missouri, Columbia has a test for the golden variant (CL5). The test costs $65 for a dog not displaying clinical signs. If you have the test done, please, please, please add your results to k9data.com (user managed web site for golden pedigrees) A searchable field has been added for the NCL variant."
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post #2 of 127 (permalink) Old 01-15-2019, 11:08 PM
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Actually, Embark also offers the genetic test for this as part of their Golden Retriever panel.

https://shop.embarkvet.com/products/...681.1540265569

“Neuronal Ceroid Lipofuscinosis (CLN5 Golden Retriever Variant) Embark SHOW MORE…
Multisystem (Multisystem)
Gene: CLN5 (Exon 4 Deletion)
Inheritance type: recessive
This form of lysosomal storage disease can cause juvenile to adult-onset neurologic signs, depending on the affected gene. While lipofuscin is commonly observed in the tissues of aged animals, dogs with NCL show an inappropriate accumulation of lipofuscin in the cells of the retina and the brain as early as 6 months and as late as 6 years, depending on the gene affected. Common symptoms reflect central nervous system malfunction and include partial or total vision loss, behavior changes, abnormal gait, and seizures. Symptoms usually progress slowly over time. While gene therapy trials in mouse models have proven promising, these are far from being used in the clinic.

A mutation in the CLN5 gene has been identified in Golden Retrievers with NCL. CLN5 codes for a protein important for the function of other lysosomal enzymes. Golden Retrievers with this form of NCL are reported to develop neurologic signs at 15 months of age.

Citations

Gilliam et al 2015”

Linda
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post #3 of 127 (permalink) Old 01-16-2019, 02:26 PM
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The easiest way I found was to go to OFA.org and click on DNA tests and follow the links. The staff will send you a kit and instructions to collect the DNA using a cheek swab and barcoded card-the card with the sample applied to it goes to the U of Missouri for testing and the OFA report back to you. This came from Liz Hansen at the University of Missouri Animal Molecular Genetics Laboratory.

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post #4 of 127 (permalink) Old 01-16-2019, 03:14 PM Thread Starter
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Originally Posted by Edward Lee Nelson View Post
The easiest way I found was to go to OFA.org and click on DNA tests and follow the links. The staff will send you a kit and instructions to collect the DNA using a cheek swab and barcoded card-the card with the sample applied to it goes to the U of Missouri for testing and the OFA report back to you. This came from Liz Hansen at the University of Missouri Animal Molecular Genetics Laboratory.
That's great! I had heard that it required a blood sample.
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post #5 of 127 (permalink) Old 01-17-2019, 08:59 PM
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Link on the OFA website to order this test:


https://www.ofa.org/diseases/dna-tes...lipofuscinosis


Make sure to click that it is a golden retriever, there are other breeds and you don't want to get the wrong test.


The disease has been found in both show and field lines. And lines outside of the US. Seems like nobody is immune.


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post #6 of 127 (permalink) Old 01-18-2019, 11:45 PM
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I wonder if this could be the underlying cause for many of the seizure issues this breed experiences. (Seizures are one of the symptoms this disease can produce.)

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post #7 of 127 (permalink) Old 01-19-2019, 12:08 PM
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It does give you pause on some of the young pups that died that Iíve known. Sometimes the diagnosis was cancer or seizures or something else undefined. Maybe it was NCL all along.

Now that NCL is a searchable field on k9data, I am sad to see the dogs that are listed as carriers. Already itís so hard for breeders to find that right pairing with all the genetic tests already available. Now this will add more difficulty.


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post #8 of 127 (permalink) Old 01-22-2019, 10:39 AM
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Quote:
Originally Posted by Swampcollie View Post
I wonder if this could be the underlying cause for many of the seizure issues this breed experiences. (Seizures are one of the symptoms this disease can produce.)
I thought the same thing.

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post #9 of 127 (permalink) Old 01-22-2019, 10:42 AM Thread Starter
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Quote:
Originally Posted by Alaska7133 View Post
Now that NCL is a searchable field on k9data, I am sad to see the dogs that are listed as carriers. Already itís so hard for breeders to find that right pairing with all the genetic tests already available. Now this will add more difficulty.
Fortunately, it's recessive ... so with conscientious breeding, it can be bred out without eliminating the desirable genes that accompany the undesirable ones.
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post #10 of 127 (permalink) Old 01-22-2019, 10:57 AM
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Originally Posted by Swampcollie View Post
I wonder if this could be the underlying cause for many of the seizure issues this breed experiences. (Seizures are one of the symptoms this disease can produce.)
Thank you for saying this because I seriously have huge problems with yet a NEW genetic condition being discovered out of the blue. Where I stand right now, I have little to no interest in testing for this because I have not heard of any dogs related to mine having any seizure or other neural type problems.

However, if I knew of something - you bet I would be testing my dogs right now! And I'd have a cow about breeders not testing when they know there's been weird things in the lines that they are breeding.

I guess where I would test is if I were interested in getting my dog out there as a stud? (not something I would do). I had somebody not long ago asking after my Bertie's clearances. She was less interested in the fact he had full clearances and more concerned about ichy. I understand breeders who are breeding carriers wanting to make sure any boys they use are clear. Makes sense to me. Would gather that this new thing is going to fall under the same system.


Last edited by Megora; 01-22-2019 at 11:03 AM.
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