Related Experiment Video
Updated: Feb 24, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Novel Variants in DCTN1 Associated with Perry Disease: A Case Series from a Chinese Parkinsonism Cohort
Yiying Zhang1, Yiling Chen1, Yixin Kang1
1Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.
Background:
Perry disease is a rare autosomal dominant inherited neurodegenerative disorder caused by cytoskeleton-associated protein glycine-rich (CAP-Gly) domain-related variants in the DCTN1 gene, with characteristic TDP-43 pathology. The typical manifestations are parkinsonism, psychiatric symptoms, weight loss, and central hypoventilation.
Objective:
The aim of the study was to delineate the genotypic and phenotypic spectrum of Perry disease in a Chinese parkinsonism cohort.
Methods:
We screened the DCTN1 CAP-Gly domain-related variants in 932 Chinese parkinsonism patients using next-generation sequencing, and functional studies of the identified variants were conducted.
Results:
Three variants were detected (two novel: p.Arg32Cys, p.Gly67Ser; one reported: p.Gly71Arg), indicating a rate of 0.32% (3/932). Clinical presentations mimicked progressive supranuclear palsy or early-onset Parkinson's disease. Functional studies supported pathogenicity, revealing impaired localization of DCTN1-encoded p150Glued protein, TDP-43 pathology, and altered lysosomal positioning.
Conclusions:
Our study broadens the genetic and phenotypic spectrum of Perry disease. These findings support consideration of DCTN1 CAP-Gly domain-related variants in patients with parkinsonism to facilitate early recognition and management. © 2026 International Parkinson and Movement Disorder Society.
Related Concept Videos
Single Nucleotide Polymorphisms-SNPs
Parkinson's Disease: Overview
Parkinson's Disease: Treatment
Parkinson's Disease is primarily a result of the loss of dopaminergic neurons in the substantia nigra pars compacta. The cornerstone of...
Neural Regulation
Comparing Copy Number Variations and SNPs
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...

