Neuronal Ceroid Lipofuscinosis, Cerebellar Ataxia, NCL4A
A lysosome is a structure within the cell that digests and removes waste. When the lysosome cannot recycle waste properly, the waste accumulates and causes the cell to die. This form of lysosomal storage disease causes adult onset neurologic signs.
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Signs and symptoms
Common symptoms reflect central nervous system malfunction and include behavior changes, abnormal gait, and seizures. Symptoms usually progress slowly over time.
American Staffordshire Terriers with this mutation are reported to show neurologic symptoms between three and five years of age. -
Diagnosis
NCL is definitively diagnosed through genetic testing or examination of central nervous system (CNS) tissues after the affected dog is deceased. Clinical signs of this disease may mimic many other CNS diseases, so examination by a veterinarian or veterinary neurologist is required. Advanced imaging (CT or MRI scan) and/or spinal taps may be performed to rule out other diseases.
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Treatment
Currently, there is no treatment for NCL. While gene therapy trials in mouse models have proven promising, there is much more research required before it can be used in veterinary hospitals.
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What to do if your dog is at risk
Actions
- Keeping your affected dog comfortable at home is the best therapy you can provide.
- Slings can be used to assist with their mobility.
- Blind dogs benefit from leaving your furniture in the same place and being put on leashes in unfamiliar territory.
- Please give your dog any medication as prescribed by your veterinarian.
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Genetic Information
A mutation in the ARSG gene was first identified in American Staffordshire Terriers with a late onset form of NCL. ARSG codes for the enzyme arylsulfatase G, which breaks down specific protein linkages during lysosomal protein recycling. The mutated enzyme has significantly lower enzyme activity, leading to symptoms of NCL.
This disease is inherited in an autosomal recessive manner, meaning that affected dogs must have two copies of the mutation to show clinical signs.
Gene names:
ARSG (Exon 2) ‐ chr
Inheritance type:
recessive
Citations:
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Breeds affected
This health condition affects the following breeds
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