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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: 4-9 years of age
Sex Predisposition: Any sex of dog can be affected
Clinical Course:
​Clinical signs slowly progress over time. After years of progression, the dog may be unable to stand or walk.
Clinical Signs:
Behavioral/Mental Awareness
Seizures
Personality change
Aggression
Hyperactivity
Loss of learned behavior
Self-mutilation

Movement
Ataxia
Head tremors
Tetraparesis

Proprioception
Proprioceptive deficits

Cranial Nerves
Visual impairment​
Diffuse central nervous system
Autosomal recessive ATP13A2 gene mutation

For breed-specific genetic testing, click the link(s) below:
https://www.genomia.cz/en/test/ncl-tibetan-terrier/
https://ofa.org/neuronal-ceroid-lipofuscinosis/​
https://www.animalabs.com/shop/dog/neuronal-ceroid-lipofuscinosis-tibetan-terrier-type-ncl/

To read more about this disease click below:
References
Picture
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