Lagotto Storage Disease
This form of lysosomal storage disease arises from a defect in the enzyme ATG4D, which plays a large role in the autophagy pathway. Autophagy describes the process by which the cell recycles damaged or malfunctioning parts of itself including old transport vesicles, organelles, and macromolecules. Loss of ATG4D stops the autophagy pathway in its tracks, causing cellular accumulation of old parts and eventual cellular malfunction and death.
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Signs and symptoms
Ataxia, behavioral changes, and abnormal eye movements can be seen with this disorder.
Signs can have a juvenile (4 months) to adult (4 years) onset. -
Diagnosis
Genetic and laboratory testing used to diagnose this disease.
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Treatment
There is no treatment except supportive care for the clinical signs the affected dog develops.
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What to do if your dog is at risk
Actions
- Focus on palliative therapies to increase your dog's comfort and quality of life.
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Genetic Information
This mutation was first described in the Lagotto Romagnolo.
This mutation is inherited in an autosomal recessive manner; that is, a dog requires two copies of the mutation to show signs of the disease.
Gene names:
ATG4D (Exon 10) ‐ chr
Inheritance type:
recessive
Citations:
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Breeds affected
This health condition affects the following breeds
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