NCL-H - Neuronal Ceroid Lipofuscinosis/Alpine Dachsbracke

Nervous system degeneration

Description: 
Neurodegenerative disease leading to loss of motor function and vision and to behavioural disorder
Symptomes: 
Progressive loss of motor function and coordination (ataxia), visual impairment, behavioural disorder, anxiety, aggressiveness, tremors, seizures
Age d'aparition: 
Between 1 and 2 years old
Fréquence: 
14% carriers
Gène impliqué: 
CLN8
Mutation testée: 
g.30852988_30902901del
Transmission: 
Autosomal Recessive
Brevet: 
-
Remarques: 
-