DCTN1 Mutation Associated Parkinsonism: Case Series of Three New Families with Perry Syndrome

Abstract

Mutations in the DCTN1 gene cause the Perry syndrome: an autosomal dominant form of heredodegenerative parkinsonism, accompanied by neuropsychiatric symptoms, profound weight loss, and later, ventilatory dysfunction [1]. Perry syndrome is rare, having been reported in 32 families worldwide [2], but early recognition of this syndrome is particularly important since intervention in the form of ventilatory support can improve life expectancy [3]. Here we discuss three unrelated individuals with genetically confirmed Perry syndrome associated with autosomal dominant family histories of parkinsonism.