NAD - Neuroaxonal Dystrophy/Spanish Water Dog

Race liée: 

Nervous system degeneration

Description: 
Neurodegenerative disease leading to loss of motor function and to behavioural deficits
Symptomes: 
Gait abnormalities (ataxia), loss of muscle tone, behavioral changes (dullness, nervousness, vocalization), incontinence, decreased to absent patellar reflexes, visual deficits
Age d'aparition: 
Between 6 and 11 months old
Fréquence: 
7% carriers
Gène impliqué: 
TECPR2
Mutation testée: 
c.4009C>T
Transmission: 
Autosomal Recessive
Brevet: 
-