HA - Cerebellar Ataxia/Old English Sheepdog

Nervous system degeneration

Description: 
Cerebellum degeneration leading to slowly progressing loss of motor function
Symptomes: 
Progressive loss of coordination, truncal sway, intention tremor, severe gait disturbances
Age d'aparition: 
Between 6 months and 4 years old
Fréquence: 
11% carriers in American population
Gène impliqué: 
RAB24
Mutation testée: 
c.113A>C
Transmission: 
Autosomal Recessive
Brevet: 
-