A Case of Familial Paroxysmal Non-kinesigenic Dyskinesia in Mainland China: A Clinical and Genetic Investigation

Cureus 2026 Open access

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Authors: Wenhan Zhang, Jingwen Li, Ruichuan Xie, Zhongjiao Lu, Nan Zhao, Kan Wang, Yansheng Li, Shuang Li, gang wang, Li Gao
DOI: 10.7759/cureus.101172
Cited by: 1
References: 18

Abstract

Paroxysmal non-kinesigenic dyskinesia (PNKD) is an autosomal dominant condition characterized by recurring dystonia or mixed chorea and ballism caused by emotional stress, exhaustion, coffee, alcohol, menstruation, and other factors. Here, we provide a large family PNKD pedigree from mainland China, where the same c.20C4T (p.Ala7Val) mutation in exon 1 of the PNKD gene was genetically confirmed to be present in nine affected individuals. Here, we report a rarely described Asian PNKD pedigree and aim to widen the clinical and genetic spectrum of PNKD while also providing fresh diagnostic insights for this rare condition.

Fields of Study & Subjects

Genomics and Rare Diseases Epilepsy research and treatment Glycogen Storage Diseases and Myoclonus

Publication details

Journal / source
Cureus
Publisher
Springer Science and Business Media LLC
Volume
18
Issue
1
Pages
e101172–e101172
Publication date
9 January 2026
Language
EN