Perry disease: recent advances and perspectives

Introduction: Perry disease, which is also widely known as Perry syndrome, is a rare autosomal dominant neurodegenerative disease clinically characterized by parkinsonism, depression/apathy, weight loss, and respiratory symptoms. Perry disease is pathologically classified as a TAR DNA-binding protein 43 (TDP-43) proteinopathy. In addition to the presence of mutations in the causative gene for the disease, DCTN1, Perry disease patients show relatively uniform clinical and pathological features. Thus, recently the nomenclature of ‘Perry disease’ has been proposed as being more appropriate than ‘Perry syndrome.’Areas covered: This review summarizes recent findings of Perry disease from the perspective of both clinical and basic science. Furthermore, future challenges and prospects for the treatment for Perry disease are discussed.Expert opinion: Among various clinical features, respiratory insufficiency including central hypoventilation is the most devastating symptom in patients with Perry disease. A diaphragmatic pacemaker may be an option for respiratory insufficiency. The development of disease-modifying therapies for Perry disease requires basic science studies and clinical trials, along with the study of other neurodegenerative diseases.