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Article

Novel Variants in DCTN1 Associated with Perry Disease: A Case Series from a Chinese Parkinsonism Cohort.

Movement disorders : official journal of the Movement Disorder Society - 1 Jun 2026

Zhang Yiying, Chen Yiling, Kang Yixin, Chen Xinhui, Li Jiaxiang, Zheng Xiaosheng, Wang Bo, Jin Nan, Ying Chenxin, Wang Yaoting, Cen Zhidong, Luo Wei

Abstract excerpt

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...

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Identifiers

PMID: 41724579
DOI: 10.1002/mds.70244

Genes

DCTN1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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