ArticleMovement disorders : official journal of the Movement Disorder Society2022
TMEM151A Variants Cause Paroxysmal Kinesigenic Dyskinesia: A Large-Sample Study.
Article in Movement disorders : official journal of the Movement Disorder Society, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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11 citing papers in PubMed, 28 citations in OpenAlex.
- Multidisciplinary perinatal management of paroxysmal kinesigenic dyskinesia in pregnancy: a case report and a proposed structured pathway.Frontiers in medicine · 2026Article
- Paroxysmal Kinesigenic Dyskinesia: Genetics and Pathophysiological Mechanisms.Neuroscience bulletin · 2024Review
- Identification of a de novo CACNA1B variant and a start-loss ADRA2B variant in paroxysmal kinesigenic dyskinesia.Heliyon · 2024Article
- An Electroencephalography Profile of Paroxysmal Kinesigenic Dyskinesia.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2024Article
- Genetic and phenotypic analyses of PRRT2 positive and negative paroxysmal kinesigenic dyskinesia.Therapeutic advances in neurological disorders · 2024Article
- TMEM151A variants associated with paroxysmal kinesigenic dyskinesia.Human genetics · 2023Article
- Translating Genetic Discovery into a Mechanistic Understanding of Pediatric Movement Disorders: Lessons from Genetic Dystonias and Related Disorders.Advanced genetics (Hoboken, N.J.) · 2023Article
- Two Cases ofMovement disorders clinical practice · 2023Article
- Evaluation of iron deposition in the motor CSTC loop of a Chinese family with paroxysmal kinesigenic dyskinesia using quantitative susceptibility mapping.Frontiers in neurology · 2023Article
- De Novo Mutation in TMEM151A and Paroxysmal Kinesigenic Dyskinesia.Movement disorders : official journal of the Movement Disorder Society · 2022Article
- Screening of theFrontiers in neurology · 2022Article
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47 authors at 12 institutions in 2 countries.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundParoxysmal kinesigenic dyskinesia (PKD) is the most common type of paroxysmal dyskinesias. Only one-third of PKD patients are attributed to proline-rich transmembrane protein 2 (PRRT2) mutations.
objectiveWe aimed to explore the potential causative gene for PKD.
methodsA cohort of 196 PRRT2-negative PKD probands were enrolled for whole-exome sequencing (WES). Gene Ranking, Identification and Prediction Tool, a method of case-control analysis, was applied to identify the candidate genes. Another 325 PRRT2-negative PKD probands were subsequently screened with Sanger sequencing.
resultsTransmembrane Protein 151 (TMEM151A) variants were mainly clustered in PKD patients compared with the control groups. 24 heterozygous variants were detected in 25 of 521 probands (frequency = 4.80%), including 18 missense and 6 nonsense mutations. In 29 patients with TMEM151A variants, the ratio of male to female was 2.63:1 and the mean age of onset was 12.93 ± 3.15 years. Compared with PRRT2 mutation carriers, TMEM151A-related PKD were more common in sporadic PKD patients with pure phenotype. There was no significant difference in types of attack and treatment outcome between TMEM151A-positive and PRRT2-positive groups.
conclusionsWe consolidated mutations in TMEM151A causing PKD with the aid of case-control analysis of a large-scale WES data, which broadens the genotypic spectrum of PKD. TMEM151A-related PKD were more common in sporadic cases and tended to present as pure phenotype with a late onset. Extensive functional studies are needed to enhance our understanding of the pathogenesis of TMEM151A-related PKD. © 2021 International Parkinson and Movement Disorder Society.
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