Features Differ Between Paroxysmal Kinesigenic Dyskinesia Patients with PRRT2 and TMEM151A Variants

Yu‐Lan Chen; Dian‐Fu Chen; Hong‐Fu Li; Zhi-Ying Wu

doi:10.1002/mds.28939

journal article Jan 27, 2022

Features Differ Between Paroxysmal Kinesigenic Dyskinesia Patients with PRRT2 and TMEM151A Variants

Yu‐Lan Chen Dian‐Fu Chen Hong‐Fu Li Zhi-Ying Wu

Movement Disorders Vol. 37 No. 3 pp. 608-613 · Wiley

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Abstract

ABSTRACTBackgroundMutations in proline‐rich transmembrane protein 2 (PRRT2) are the major cause of paroxysmal kinesigenic dyskinesia (PKD). We recently reported transmembrane protein 151A (TMEM151A) mutations caused PKD. Herein, we aimed to conduct phenotypic comparisons of patients with PKD carrying PRRT2 variants, carrying TMEM151A variants, and carrying neither the PRRT2 nor TMEM151A variant.MethodsSanger sequencing of PRRT2 and TMEM151A was performed, and phenotypic characteristics were analyzed.ResultsIn a cohort of 131 PKD probands (108 without PRRT2 variants and 23 newly recruited), five novel TMEM151A variants were identified and one (c.647C > A) occurred de novo. Together with our previous studies, PRRT2 and TMEM151A variants accounted for 34.7% (85/245) and 6.9% (17/245) of PKD probands, respectively. Compared with patients carrying PRRT2 variants, those with TMEM151A variants tended to exbibit dystonia with shorter durations, have no history of benign infantile epilepsy, and have residual attacks/aura when treated with carbamazepine/oxcarbazepine.ConclusionsPatients with TMEM151A variants have different features from patients with PRRT2 variants. © 2022 International Parkinson and Movement Disorder Society

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Details

Published: Jan 27, 2022
Vol/Issue: 37(3)
Pages: 608-613
License: View

Authors

Y

Yu‐Lan Chen

Department of Neurology and Research Center of Neurology in Second Affiliated Hospital and Key Laboratory of Medical Neurobiology of Zhejiang Province Zhejiang University School of Medicine Hangzhou China

D

Dian‐Fu Chen

Department of Neurology and Research Center of Neurology in Second Affiliated Hospital and Key Laboratory of Medical Neurobiology of Zhejiang Province Zhejiang University School of Medicine Hangzhou China

H

Hong‐Fu Li

Department of Neurology and Research Center of Neurology in Second Affiliated Hospital and Key Laboratory of Medical Neurobiology of Zhejiang Province Zhejiang University School of Medicine Hangzhou China

Z

Zhi-Ying Wu

Department of Neurology and Research Center of Neurology in Second Affiliated Hospital and Key Laboratory of Medical Neurobiology of Zhejiang Province Zhejiang University School of Medicine Hangzhou China

Funding

National Natural Science Foundation of China Award: 81330025

Zhejiang University Award: 188020‐193810101/089

Cite This Article

Yu‐Lan Chen, Dian‐Fu Chen, Hong‐Fu Li, et al. (2022). Features Differ Between Paroxysmal Kinesigenic Dyskinesia Patients with PRRT2 and TMEM151A Variants. Movement Disorders, 37(3), 608-613. https://doi.org/10.1002/mds.28939

Features Differ Between Paroxysmal Kinesigenic Dyskinesia Patients with PRRT2 and TMEM151A Variants

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