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=3

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=<sec><title>Background</title><p>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.</p></sec><sec><title>Methods</title><p>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.</p></sec><sec><title>Results</title><p>We identified pathogenic/likely pathogenic variants [<italic>THAP1</italic> (n = 1) and <italic>ANO3</italic> (n = 1)] in two patients with DT. In addition, one DT patient had a variant of uncertain significance in <italic>FUS</italic> and four patients had benign variants [<italic>CIZ1</italic> (n = 1), <italic>COL6A3</italic> (n = 1), <italic>GCH1</italic> (n = 1), <italic>TENM4</italic> (n = 1)]. One patient with ETP was detected to have a variant of uncertain significance in <italic>TENM4</italic> and five patients with ETP had benign variants [<italic>COL6A3</italic> (n = 2), <italic>VPS16</italic> (n = 1), <italic>TAF1</italic> (n = 1), <italic>KMT2B</italic> (n = 1)].</p></sec><sec><title>Conclusion</title><p>Genetic studies may be in an important biomarker in differentiating patients with ET plus from DT which is challenging in a clinical setting.</p></sec>