Equine juvenile spinocerebellar ataxia (EJSCA)

LABOKLIN Service ID: 9143

In 2020, an inherited neurological disorder was described in the American Quarter Horse: Equine Juvenile Spinocerebellar Ataxia (EJSCA). It affects young foals and can lead within just a few days to severe movement disorders and eventually to an inability to stand. Initial signs of ataxia, meaning a marked impairment of movement coordination, usually appear in affected foals between one and four weeks of age. The symptoms are particularly pronounced in the hind limbs, while the forelimbs are often less severely affected. As the disease progresses, affected foals may rotate their hind limbs outwards while the forelimbs remain planted on the ground. This results in a characteristic gait that can appear almost “sideways”. The disease progresses rapidly. Within just a few days, affected foals may become unable to stand without assistance. Due to the severity of the condition, euthanasia is generally required. Blood tests also frequently reveal elevated glucose and gamma-glutamyl transferase (GGT) levels. Post-mortem examinations show characteristic changes in the spinal cord.

Method	Sequencing
Breed list	Quarter Horse
Heredity	autosomal rezessive
Duration	1 - 2 weeks after arrival of the sample in the lab