Other names: Amaurotic idiocy, Batten disease, NCL, NCL5
Affected gene: CLN5
Inheritance: Autosomal Recessive
Mutation: CanFam3.1   chr22:30574949-30574950 : 2 bp deletion (delAG)
OMIA link: 001482-9615

Breeds: Golden Retriever

Symptoms:
Dogs with this disease have an enzyme specific to normal cellular metabolism that is defective resulting in an abnormal accumulation of waste products, primarily in the cells of the nervous system, which leads to a series of neurological symptoms such as hyperactivity, dementia, aggression, loss of coordination, ataxia, delayed postural responses, blindness and slow pupillary responses to light. Symptoms begin at about 18-24 months of age and affected dogs die or are euthanized at about 2-3 years of age due to the severity of their symptoms.

References:
Gilliam D, Kolicheski A, Johnson GS, Mhlanga-Mutangadura T, Taylor JF, Schnabel RD, Katz ML. Golden Retriever dogs with neuronal ceroid lipofuscinosis have a two-base-pair deletion and frameshift in CLN5. Mol Genet Metab. 2015 Jun-Jul;115(2-3):101-9. doi: 10.1016/j.ymgme.2015.04.001. [PubMed: 25934231]
Meiman EJ, Kick GR, Jensen CA, Coates JR, Katz ML. Characterization of neurological disease progression in a canine model of CLN5 neuronal ceroid lipofuscinosis. Dev Neurobiol. 2022 Apr 15. [PubMed: 35427439]