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Multisystem

This is a Multisystem condition.

Adult-Onset Neuronal Ceroid Lipofuscinosis

What is Adult-Onset NCL?

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.

What are the signs & symptoms that develop in affected dogs?

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.

When do signs and symptoms develop?

Affected Tibetan Terriers first show neurologic signs at 5 to 7 years of age; however, visual deficits, notably night blindness, can be noticed as early as 7 weeks of age and can be diagnosed by a veterinary ophthalmologist.

How do vets diagnose this condition?

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.

How is this condition treated?

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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