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Neuronal Ceroid Lipofuscinosis
  • Description
  • Signalment
  • Clinical Features
  • Neurolocalization
  • Genetics
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Neuronal ceroid lipofuscinosis are a group of lysosomal storage disorders characterized by intracellular accumulations resulting in progressive neuronal degeneration.
Age of Onset: Two forms of NCL exist in australian cattle dogs:
Early-onset: occuring in dogs less than 2 years of age
Late-onset: occuring in dogs older than 6 years of age

Sex Predisposition: Any sex of dog can be affected
Clinical Course:
​Clinical signs slowly progress over the source of 1-2 years. After years of progression the dog may be unable to stand or walk.
Clinical Signs:
Behavioral/Mental Awareness
Seizures
Personality change
Aggressive or fearfull behavior
Hyperactivity
Loss of learned behavior
"Trance"-like behavior
Propulsive circling
Increased sensitivity to loud or unexpected sounds
​Sleep disturbances

Movement
Ataxia
Head tremors
Tetraparesis

Proprioception
Proprioceptive deficits

Cranial Nerves
Visual impairment
Absent menace response

Strabismus
Verical nystagmus
Intracranial - diffuse
Early-onset: Autosomal recessive mutation in the CLCN5 gene
Late-onset: Autosomal recessive mytation in the ATP13A2 gene

For breed specific testing, follow the links below:
https://www.combibreed.com/neuronal-ceroid-lipofuscinosis-12-ncl-12-australian-cattle-dog/
https://www.animalabs.com/shop/dog/neuronal-ceroid-lipofuscinosis-12-ncl12--australian-cattle-dog-type/
https://www.genomia.cz/en/test/ncl12/​
https://embarkvet.com/products/dog-health/health-conditions/late-onset-neuronal-ceroid-lipofuscinosis-ncl-12/​
To read more about this disease click below:
References
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