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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: 1-9 years (most are less than 2 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
​Fly-biting behavior


Posture and Appearance
Wide-based stance

Movement

Ataxia
Head tremors
Tetraparesis

Proprioception
Proprioceptive deficits

Cranial Nerves
Visual impairment
Absent menace response

Intracranial - diffuse
Autosomal recessive CLN6 gene mutation

For breed specific genetic testing follow the link below: 
https://www.genomia.cz/en/test/ncl6/​
https://embarkvet.com/products/dog-health/health-conditions/neuronal-ceroid-lipofuscinosis-6-ncl-6/​
To read more about this disease click below:
References
Picture
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