Establishing diagnostic criteria for Perry syndrome

Abstract

Based on our findings, we propose the following definitive diagnostic criteria for Perry syndrome: the presence of four cardinal signs of Perry syndrome, accompanied by a mutation in <i>DCTN1;</i> or a family history of the disease, parkinsonism and a mutation in <i>DCTN1</i>; or the presence of four cardinal signs and pathological findings that include nigral neuronal loss and TDP-43 pathology. As patients with Perry syndrome present with uniform clinical, genetic and pathological features, we further propose the disorder be termed 'Perry disease.'