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: 4-5 months of age
Sex Predisposition: Any sex of animal can be affected
Clinical Course:
Clinical signs worsen over time. The clinical course begins with visual abnormalities, progressing to regurgitation and ataxia over 2-6 months.
Clinical signs worsen over time. The clinical course begins with visual abnormalities, progressing to regurgitation and ataxia over 2-6 months.
Clinical Signs:
Behavioral/Mental Awareness
Anxious during manipulation of the head
Posture and Appearance
Microphthalmia
Small pupils
Cataracts
Strabismus
Persistent pupillary membranes
Movement
Ataxia
Paraparesis
Proprioception
Reduced to absent postural reactions
Cranial Nerves
Bilaterally absent menace response
Spinal Reflexes
Hyperreflexia of all four limbs
Crossed-extensor reflex
Muscle Hypertonicity
Special Functions (e.g. respiration; urination)
Regurgitation
Altered voice
Inspiratory stridor
Behavioral/Mental Awareness
Anxious during manipulation of the head
Posture and Appearance
Microphthalmia
Small pupils
Cataracts
Strabismus
Persistent pupillary membranes
Movement
Ataxia
Paraparesis
Proprioception
Reduced to absent postural reactions
Cranial Nerves
Bilaterally absent menace response
Spinal Reflexes
Hyperreflexia of all four limbs
Crossed-extensor reflex
Muscle Hypertonicity
Special Functions (e.g. respiration; urination)
Regurgitation
Altered voice
Inspiratory stridor
Spinal cord (sensory > motor), eyes, and vagus nerve
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:
