Krabbe disease (globoid cell leukodystrophy,
galactosylceramide lipidosis)
Cause:
Congenital disease, which is said to be recessive hereditary defect (autosomal recessive gene).
The disease is a degenerative disorder that affects nervous system. It is a result of deficiency of an enzyme called galactosylceramidase (galactocerebrosidase), which causes changes in myelin turnover – its catabolism and inability of reconstruction - progressive demyelination. The myelin metabolites - sphingolipids are deposited in neuronal cells. They are toxic and cause white matter disorders in central and peripheral nervous system.
Symptoms:
First symptoms are usually seen at 2-6 month of life and include: muscle weakness, ataxia (lack of coordination), often starting with pelvic limbs (legs are stiff, puppies fall on the side). Also head tremors, blindness, weakened or stopped spinal reflexes, muscle atrophy, behavior change are observed.
Disease progresses in time and dogs are euthanized at the age of 10 months – 2 years.
Diagnosis:
Symptomatical, MRI, histopathology.
What can we do:
No treatment available.
No DNA test available for kelpies to prevent disease spread. Therefore the only reasonable solution is to not to breed affected dogs, their parents and other siblings, as potential carriers of disease. These animals should be castrated.
Control and eradication of Krabbe disease from kelpies could only be possible when PCR-based test is developed, like it was done for some other breeds. Interesting thing is that Krabbe disease in each breed is caused by different mutation, only its result is the same. Therefore we cannot use in kelpies PCR test developed for other breeds.
First report regarding Krabbe disease in kelpies comes from 1998-1999. It was diagnosed in three related puppies showing neurological signs. There is no much data published about Krabbe disease in kelpies and veterinarians may not be aware that this disease can occur in this breed, so it may go undiagnosed.
As this is inherited disorder and no genetic test is available yet, the widespread use of carriers (dogs showing no symptoms) over the breed could lead to increase incidence of Krabbe disease in kelpies. Therefore please ask your veterinarians for post mortem check of any pup showing neurological signs to find the cause of disease (many diseases may show similar neurological symptoms and only knowing what we dealing with will allow us to make a proper decision regarding further breeding).
For Further information on Krabbe Disease click here
Cause:
Congenital disease, which is said to be recessive hereditary defect (autosomal recessive gene).
The disease is a degenerative disorder that affects nervous system. It is a result of deficiency of an enzyme called galactosylceramidase (galactocerebrosidase), which causes changes in myelin turnover – its catabolism and inability of reconstruction - progressive demyelination. The myelin metabolites - sphingolipids are deposited in neuronal cells. They are toxic and cause white matter disorders in central and peripheral nervous system.
Symptoms:
First symptoms are usually seen at 2-6 month of life and include: muscle weakness, ataxia (lack of coordination), often starting with pelvic limbs (legs are stiff, puppies fall on the side). Also head tremors, blindness, weakened or stopped spinal reflexes, muscle atrophy, behavior change are observed.
Disease progresses in time and dogs are euthanized at the age of 10 months – 2 years.
Diagnosis:
Symptomatical, MRI, histopathology.
What can we do:
No treatment available.
No DNA test available for kelpies to prevent disease spread. Therefore the only reasonable solution is to not to breed affected dogs, their parents and other siblings, as potential carriers of disease. These animals should be castrated.
Control and eradication of Krabbe disease from kelpies could only be possible when PCR-based test is developed, like it was done for some other breeds. Interesting thing is that Krabbe disease in each breed is caused by different mutation, only its result is the same. Therefore we cannot use in kelpies PCR test developed for other breeds.
First report regarding Krabbe disease in kelpies comes from 1998-1999. It was diagnosed in three related puppies showing neurological signs. There is no much data published about Krabbe disease in kelpies and veterinarians may not be aware that this disease can occur in this breed, so it may go undiagnosed.
As this is inherited disorder and no genetic test is available yet, the widespread use of carriers (dogs showing no symptoms) over the breed could lead to increase incidence of Krabbe disease in kelpies. Therefore please ask your veterinarians for post mortem check of any pup showing neurological signs to find the cause of disease (many diseases may show similar neurological symptoms and only knowing what we dealing with will allow us to make a proper decision regarding further breeding).
For Further information on Krabbe Disease click here