A Chinese pedigree with Perry disease caused by the p.Y78H mutation in DCTN1: A 6-year clinical follow-up

Perry disease is a rare autosomal dominant neurodegenerative disorder with core features of parkinsonism, depression, apathy, weight loss, and central hyperventilation. To date, few cases of Perry disease have been reported worldwide, and they are all due to mutations in the DCTN1 gene. We report a case of a Chinese pedigree. Clinical information was collected from a Chinese pedigree. Brain magnetic resonance imaging, pulmonary function tests, and arterial blood gas analysis were performed on both the proband and his youngest aunt. Genomic DNA from the proband’s aunt was analyzed using whole-exome sequencing to detect genetic mutations. The family displayed an autosomal dominant mode of inheritance, and we identified a p.Y78H mutation in DCTN1. After 6 years of follow-up, the proband exhibited mood-related “on-off” phenomena, weight gain, and used a CPAP ventilator at night. The proband’s aunt presented with weight loss and respiratory failure four years after disease onset. This study reports a Chinese family with Perry disease. The mutation of DCTN1 in this family is p.Y78H. We share the findings in this family, hoping to increase our understanding of Perry disease in clinical work. The data that support the findings of this study are available on request from the corresponding author. The data are not publicly available due to privacy or ethical restrictions.