Article
A Chinese pedigree with Perry disease caused by the p.Y78H mutation in DCTN1: A 6-year clinical follow-up.
Behavioural brain research - 12 Mar 2023
Pan Xingyuan, Hong Qian, Lu Xucong, Li Zhengzheng, Wang Luxi, Chen Weian, Pan Sipei
Abstract excerpt
PURPOSE: 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. METHODS: Clinical information was collected from a Chinese pedigree. Brain...
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