Genetic mutation causes ataxia in humans and dogs
Thursday, June 16, 2016 - 11:00
in Biology & Nature
Cerebellar ataxia is a condition of the cerebellum that causes an inability to coordinate muscle movements. A study publishing June 16 in Cell Reports now describes a new genetic mutation as an additional cause of ataxia in humans and mice. The mutation, in the gene CAPN1, affects the function of the enzyme calpain-1 and causes abnormal brain development. The same genetic mutation is also associated with ataxia in Parson Russell Terrier dogs.