NCL-C - Neuronal Ceroid Lipofuscinosis/Tibetan Terrier

Race liée: 

Nervous system degeneration

Description: 
Neurodegenerative disease leading to loss of motor function and behavioural disorder
Symptomes: 
Progressive loss of motor function and coordination (ataxia), behavioural disorder, cognitive decline, progressive loss of vision
Age d'aparition: 
Between 4 and 9 years old
Fréquence: 
32% carriers in American population
Gène impliqué: 
ATP13A2
Mutation testée: 
c.1623delG
Transmission: 
Autosomal Recessive
Brevet: 
-
Remarques: 
-