Autosomal-dominant striatal degeneration is caused by a mutation in the phosphodiesterase 8B gene

A study highlights that autosomal-dominant striatal degeneration (ADSD), a movement disorder affecting the striatal part of the basal ganglia, is caused by a complex frameshift mutation in the phosphodiesterase 8B (PDE8B) gene expressed in the brain. It shows that the mutation results in the loss of phosphodieterase enzyme activity, also suggesting that a functional analysis of PDE8B would help in a better understanding of ADSD and other such disorders.