AUTHOR=Pandey Sanjay , Yadav Navneesh , Dinesh Shreya , Rawat Chandra Shekhar , Thelma B. K. 

TITLE=Effort to differentiate essential tremor plus and dystonic tremor using whole exome sequencing: an exploratory study

JOURNAL=Dystonia

VOLUME=Volume 3 - 2024

YEAR=2024

URL=https://www.frontierspartnerships.org/journals/dystonia/articles/10.3389/dyst.2024.13181

DOI=10.3389/dyst.2024.13181

ISSN=2813-2106

ABSTRACT=The clinical differentiation between essential tremor plus (ETP) and dystonic tremor (DT) is challenging. This study aimed at the genetic diagnosis of ETP and DT.Methods: Whole exome sequencing was performed on 50 probands (ETP=25; DT=25) and analysed to identify variants in known genes linked with dystonia and essential tremor plus phenotypes.: We identified pathogenic/likely pathogenic variants [THAP1 (n=1) and ANO3 (n=1)] in two patients with DT. In addition, one DT patient had a variant of uncertain significance in FUS and four patients had benign variants [CIZ1 (n=1), COL6A3 (n=1), GCH1 (n=1), TENM4 (n=1)]. One patient with ETP was detected to have a variant of uncertain significance in TENM4 and five patients with ETP had benign variants [COL6A3 (n=2), VPS16 (n=1), TAF1 (n=1), KMT2B (n=1)].Genetic studies may be in an important biomarker in differentiating patients with ET plus from DT which is challenging in a clinical setting.