Literature DB >> 31818346

[Essential tremor: genetic update].

Hao Deng1,2, Shan Wu1, Joseph Jankovic3.   

Abstract

Essential tremor (ET) is a neurological movement disorder characterised by bilateral limb kinetic/postural tremor, with or without tremor in other body parts including head, voice and lower limbs. Since no causative genes for ET have been identified, it is likely that the disorder occurs as a result of complex genetic factors interacting with various cellular and environmental factors that can result in abnormal function of circuitry involving the cerebello-thalamo-cortical pathway. Genetic analyses have uncovered at least 14 loci and 11 genes that are related to ET, as well as various risk or protective genetic factors. Limitations in ET genetic analyses include inconsistent disease definition, small sample size, varied ethnic backgrounds and many other factors that may contribute to paucity of relevant genetic data in ET. Genetic analyses, coupled with functional and animal studies, have led to better insights into possible pathogenic mechanisms underlying ET. These genetic studies may guide the future development of genetic testing and counselling, and specific, pathogenesis-targeted, therapeutic strategies.

Entities:  

Keywords:  Animal model; disease-causing mutation; essential tremor; genetic locus; risk factor

Mesh:

Year:  2019        PMID: 31818346     DOI: 10.1017/erm.2019.7

Source DB:  PubMed          Journal:  Expert Rev Mol Med        ISSN: 1462-3994            Impact factor:   5.600


  5 in total

Review 1.  Sleep Disorders in Patients with Essential Tremor.

Authors:  Félix Javier Jiménez-Jiménez; Hortensia Alonso-Navarro; Elena García-Martín; José A G Agúndez
Journal:  Curr Neurol Neurosci Rep       Date:  2021-03-22       Impact factor: 5.081

2.  Graph Theoretical Analysis of Structural Covariance Reveals the Relevance of Visuospatial and Attentional Areas in Essential Tremor Recovery After Stereotactic Radiosurgical Thalamotomy.

Authors:  Thomas A W Bolton; Dimitri Van De Ville; Jean Régis; Tatiana Witjas; Nadine Girard; Marc Levivier; Constantin Tuleasca
Journal:  Front Aging Neurosci       Date:  2022-05-23       Impact factor: 5.702

3.  Vitamin D Receptor and Binding Protein Gene Variants in Patients with Essential Tremor.

Authors:  José A G Agúndez; Elena García-Martín; Hortensia Alonso-Navarro; Christopher Rodríguez; Mónica Díez-Fairén; Ignacio Álvarez; Pau Pastor; Julián Benito-León; Tomás López-Alburquerque; Félix Javier Jiménez-Jiménez
Journal:  Mol Neurobiol       Date:  2022-03-24       Impact factor: 5.590

4.  Phenotypic Features of Isolated Essential Tremor, Essential Tremor Plus, and Essential Tremor-Parkinson's Disease in a Movement Disorders Clinic.

Authors:  Steven T Bellows; Joseph Jankovic
Journal:  Tremor Other Hyperkinet Mov (N Y)       Date:  2021-03-29

Review 5.  Genomic Markers for Essential Tremor.

Authors:  Félix Javier Jiménez-Jiménez; Hortensia Alonso-Navarro; Elena García-Martín; Ignacio Álvarez; Pau Pastor; José A G Agúndez
Journal:  Pharmaceuticals (Basel)       Date:  2021-05-27
  5 in total

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