Neuronal Vacuolation (POANV- Polyneuropathy, Ocular Abnormalities, and Neuronal Vacuolation)
POANV (Polyneuropathy, Ocular Abnormalities, and Neuronal Vacuolation) is an inherited disorder resulting in neurologic and ocular abnormalities, similar to Warburg Micro Syndrome in humans.
Age of Onset: Less than 3 months of age
Sex Predisposition: Any sex of animal can be affected
Clinical Course:
Clinical signs worsen over time.
Clinical signs worsen over time.
Clinical Signs:
Posture and Appearance
Ocular changes (Microphthalmia, cataracts, miotic pupils, persistent pupillary membranes)
Movement
Ataxia
Proprioception
Reduced to absent postural reactions
Cranial Nerves
Bilateral laryngeal paralysis
Pharyngeal retention of food
Spinal Reflexes
Hyperreflexia of all four limbs
Crossed-extensor reflex
Muscle Hypertonicity
Special Functions (e.g. respiration; urination)
Regurgitation
Altered voice
Stridor
Respiratory distress
Other
Respiratory distress
Food bolus discohesion
Delayed peristalsis
Posture and Appearance
Ocular changes (Microphthalmia, cataracts, miotic pupils, persistent pupillary membranes)
Movement
Ataxia
Proprioception
Reduced to absent postural reactions
Cranial Nerves
Bilateral laryngeal paralysis
Pharyngeal retention of food
Spinal Reflexes
Hyperreflexia of all four limbs
Crossed-extensor reflex
Muscle Hypertonicity
Special Functions (e.g. respiration; urination)
Regurgitation
Altered voice
Stridor
Respiratory distress
Other
Respiratory distress
Food bolus discohesion
Delayed peristalsis
Diffuse CNS
Autosomal recessive mutation in RAB3GAP1 gene
For breed specific genetic testing, follow the links below:
https://vgl.ucdavis.edu/test/poanv
https://labgenvet.ca/en/disease/nvsd-neuronal-vacuolation-spinocerebellar-degeneration-rottweiler/
For breed specific genetic testing, follow the links below:
https://vgl.ucdavis.edu/test/poanv
https://labgenvet.ca/en/disease/nvsd-neuronal-vacuolation-spinocerebellar-degeneration-rottweiler/
To read more about this disease click below:
