Lagotto storage disease / LSD / aberrant autophagy (ATG4D-related) - Dog

What does this test analyse?

This genetic test analyses the ATG4D c.1288G>A variant for Lagotto storage disease in dogs. The condition is also known as LSD, neurodegenerative vacuolar storage disease, lysosomal storage disease and aberrant autophagy. ATG4D is involved in autophagy, the cellular system that breaks down and recycles cell components. Disruption of this process can lead to accumulation and vacuolisation in nerve cells.

What does this condition mean?

Lagotto storage disease is an inherited neurological disorder in the Lagotto Romagnolo. Affected dogs can develop progressive ataxia, with an unsteady or poorly coordinated gait. Nystagmus, abnormal eye movements, behavioural changes and signs of cerebellar involvement can also occur. Age of onset varies, so genetic information is useful before clinical signs become obvious.

Inheritance and result

The condition is inherited as an autosomal recessive trait. A clear dog does not carry the tested variant. A carrier has one copy and can pass the variant on. A dog with two copies has the genetic form of Lagotto storage disease; severity and age of onset can vary.

Practical value of this test

• Helps Lagotto breeders identify carriers and avoid risk matings.
• Supports healthy line planning without unnecessarily reducing genetic diversity.
• Gives owners and veterinarians concrete genetic information when ataxia, nystagmus or neurological signs are relevant.
• Provides objective documentation for breeding animals and offspring within the breed.

Why DNA testing matters here

In Lagotto storage disease, visible severity and age of onset can differ between dogs. Looking only at appearance or behaviour is therefore not enough to identify carriers reliably in a breeding population. DNA testing makes it possible to pair carriers with clear dogs, avoid affected combinations and preserve valuable lines responsibly. For owners, the result adds clarity when coordination problems, abnormal eye movements or other neurological signs appear.