Other Names: Amaurotic Idiocy, Batten Disease, NCL, NCL6
Affected Gene: CLN6
Transmission: Autosomal recessive
Mutation: CanFam3.1 chr30 g.32247875A>G c.829T>C
OMIA Link: [Not provided]


Breeds Recommended for Testing: Australian Shepherd


Symptoms:
Dogs affected by this disease have a defective enzyme that is crucial for normal cellular metabolism, leading to the abnormal accumulation of waste, primarily in the cells of the nervous system. This results in a range of neurological symptoms, including: Hyperactivity, Dementia, Aggression, Loss of coordination, Ataxia, Delayed postural responses, Blindness, Slow pupil response to light.
Symptoms usually begin between 18-24 months of age, and affected dogs typically die or are euthanized by the age of 2-3 years due to the severity of their symptoms.


References:
Katz ML, Farias FH, Sanders DN, Zeng R, Khan S, Johnson GS, O'Brien DP.
A missense mutation in canine CLN6 in an Australian Shepherd with neuronal ceroid lipofuscinosis.
J Biomed Biotechnol. 2011; 2011:198042.