Disease overview

Neuronal ceroid lipofuscinosis is a neurodegenerative lysosomal storage disease. Its characteristic signature is the accumulation of autofluorescent lipopigments within the central nervous system, as well as other tissues and organs. Affected animals tend to go through normal physical development, following which motor, cognitive and visual functions start to progressively deteriorate. This progressive decline is often accompanied by generalized brain atrophy.

Gene name

CLN6, MFSD8

Inheritance

Autosomal recessive

Signs and symptoms

Clinical signs of neuronal ceroid lipofuscinosis can vary greatly, although most common signs are generalized neurologic dysfunction, apparent blindness or changes in visual acuity, and seizures. This disease is progressive and will either cause death or necessitate euthanasia.

How is it diagnosed

Diagnosis of NCL is based on clinical signs and evaluation of tissue samples.

Breeds at higher risk

Current data does not indicate that specific breeds are at a higher risk.

Citations

https://pubmed.ncbi.nlm.nih.gov/24026940/ https://pubmed.ncbi.nlm.nih.gov/32518081/

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.