Perry syndrome with progressive supranuclear palsy-like phenotype in a Portuguese family – Long-term clinical follow-up

Perry syndrome (PS), or Perry disease, was first described in 1975 in a Canadian family as an autosomal dominant disease [1]. Disease-causing DCTN1 gene variants were later identified as the cause of PS and brain pathology studies revealed pallidonigral TDP-43 proteinopathy [2]. Parkinsonism, depression, weight loss, and sleep disturbances have been identified as the four cardinal PS diagnostic signs [3]. Eighty-seven patients from 20 families were considered for establishing these criteria, emphasizing the rarity of this condition.

Source: Parkinsonism and Related Disorders - February 4, 2021 Category: Neurology Authors: Rui Duarte Barreto, Rita Rodrigues, Jos é Mário Roriz, Isabel Alonso, Marina Magalhães Tags: Correspondence Source Type: research