NCL-D - Neuronal Ceroid Lipofuscinosis / Setter Gordon

Race liée: 

Nervous system degeneration (ataxia)

Description: 
Neurodegenerative disease leading to loss of motor function and vision and to behavioural disorder
Symptomes: 
Progressive loss of motor function and coordination (ataxia), behavioural disorder, blanks, progressive loss of vision
Age d'aparition: 
Between 12 and 18 months old
Fréquence: 
24% carriers in French population
Gène impliqué: 
CLN8
Mutation testée: 
c.491T>C
Transmission: 
Autosomal Recessive
Remarques: 
An another DNA test (HA) is available to detect an other form of ataxia in this breed.